It Happened To Me: A Rare Disease and Medical Challenges Podcast

In this heartfelt episode we welcome guest Carissa Carroll, M.Ed., Founder and Executive Director of Jack's Basket, a nonprofit that has transformed the way families experience a Down syndrome diagnosis. A former educator with degrees from Bethel University and the University of Minnesota, Carissa taught at both the elementary and collegiate levels. But her life—and her mission—changed forever after the birth of her son Jack, and an abrupt, assumptive diagnosis experience. Determined to ensure future families would feel supported, celebrated, and connected, Carissa launched Jack's Basket in Jack's honor. Since then, over 11,000 families in 55 countries have received baskets filled with love, resources, and messages of hope. Carissa now leads her organization full-time and presents to healthcare professionals nationwide on how to deliver diagnoses without bias, while also engaging donors and volunteers who help carry out Jack's Basket's powerful mission. Topics Covered: What is Down syndrome and how it affects individuals and families Carissa's personal story of receiving Jack's diagnosis and the emotional impact The inspiration behind launching Jack's Basket What's inside a welcome basket and how it brings comfort to new families Carissa's advocacy for bias-free diagnosis delivery in medical settings Common misconceptions about Down syndrome Why early connection and community support are crucial Memorable moments from Jack's life and the families they've served Advice for new parents, healthcare providers, and loved ones welcoming a baby with Down syndrome Media highlights, including Carissa's appearance on The Kelly Clarkson Show and DNA Today podcast (Episode #333) Jack's Basket Resources: Jack's Basket Website Request a Basket Genetic Counseling Webinar: "Communicating Unexpected News"   Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

In this powerful episode of It Happened To Me, co-hosts Cathy Gildenhorn and Beth Glassman are joined by two fierce patient advocates and changemakers in the sickle cell disease community: Wunmi Bakare and Dima Hendricks. Both women are living with sickle cell disease and have transformed their lived experiences into platforms for storytelling, education, and change.   They are also the co-hosts of #ThroughTheGenes, a podcast that launched last year on World Sickle Cell Day (June 19, 2024). The show explores gene therapy and other innovative treatments for sickle cell disease while centering patient voices. With a second season debuting again on June 19th (exactly a month from today!), Wunmi and Dima continue to bring much-needed visibility to a condition that is often misunderstood and underfunded. And they will be joined by a new dynamic host, Christelle Salomon!   Topics Discussed: What is sickle cell disease and how it impacts daily life The emotional and physical toll of living with a chronic, invisible illness Medical gaslighting and how to advocate for yourself Finding community and realizing you're not alone Blending identity, advocacy, and creativity in the public eye Insights into gene therapy, including CRISPR technology and treatment considerations Health equity and why access to care must be a priority in the sickle cell space The power of patient-centered storytelling through #ThroughTheGenes podcast   During the episode Beth referenced a previous episode with someone who has pancreatic cancer, you can listen to Leslie Waldman's full interview on Episode 25 here.    Catch up with all of season 1 of #ThroughTheGenes podcast right now, before season 2 launches on World Sickle Cell Day on June 19th, 2025.    Both podcasts, It Happened To Me and #ThroughTheGenes are part of Gene Pool Media, the science podcast network. Be sure to check out all these science shows, many of which discuss medical challenges.    Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In this powerful episode of It Happened To Me, hosts Beth Glassman and Cathy Gildenhorn are joined by author, advocate, and healthcare leader Laura Kieger, who shares her family's deeply personal journey with FAP (Familial Adenomatous Polyposis), a rare genetic condition that significantly increases the risk of colorectal and other cancers. Laura's memoir, Summer's Complaint, chronicles the emotional and medical challenges her family has faced across generations, from diagnosis and genetic testing to coping with loss and finding resilience. As someone who tested negative for the familial mutation herself, Laura also opens up about "survivor's guilt", the burden of watching loved ones endure cancer, and how her work in healthcare and leadership has informed her approach to caregiving and advocacy. Whether you're living with a hereditary cancer condition, supporting someone who is, or simply seeking to understand the human side of genetic risk, this episode offers insight, education, and compassion. Topics Covered: What FAP is and how it differs from other hereditary cancer conditions Laura's family's diagnosis journey and how it shaped their approach to screening and prevention The emotional experience of receiving a negative genetic test result when others in your family test positive The value of genetic counseling and early detection Misconceptions about FAP and what patients and families should really know How storytelling can raise awareness and build advocacy for rare diseases Highlights from Laura's memoir, Summer's Complaint, and what she hopes readers take away Laura Kieger is a healthcare human resources consultant, leadership coach, and author of Summer's Complaint. With decades of experience improving patient and employee experiences in healthcare settings, Laura brings both professional and personal insight to the conversation around rare diseases and inherited cancer risk. She's also a passionate advocate and speaker for organizations like the Ronald McDonald House and Care Partners.   Be sure to purchase your own copy of Laura's memoir Summer's Complaint; all proceeds go to continuing education credits for healthcare providers about hereditary cancer syndromes. During the episode Laura also mentioned a study about green bananas here and a private Facebook support group here.    Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.   

Hosts Beth and Cathy sit down with Carrie Francis, a university student and passionate advocate for the blind, visually impaired, and deafblind communities. Carrie, born with a rare 5th-degree facial cleft, has overcome extraordinary medical challenges, including severe blindness and hearing impairment. Despite being told she wouldn't survive beyond her first week of life, Carrie has defied the odds and is now pursuing a Bachelor's degree in Psychology while dedicating her life to advocacy and community support.   Carrie shares her journey from childhood surgeries and speech therapy to navigating life as a deafblind person. She opens up about the misconceptions surrounding the deafblind community, the resilience required to thrive despite medical challenges, and the support systems that have helped her along the way.   This episode is a testament to the power of determination, the importance of advocacy, and the strength it takes to rewrite your story against all odds.   Key Topics Discussed: What is a cleft palate, and how does it differ from a cleft lip? The medical and emotional challenges of living with a 5th-degree facial cleft. Navigating life as a deafblind person: adaptations, family support, and advocacy. Overcoming misconceptions about the deafblind community. Carrie's journey to pursuing a degree in psychology and her advice for students with disabilities. Resilience and the factors that helped Carrie defy her initial prognosis. Impact of the Lions Foundation in Canada   Connect with Us:   Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

Jaime Albright Henighan shares her family's journey after two of her sons, Joshua and Jorden, were diagnosed with a rare genetic kidney disease called APOL1-mediated FSGS (Focal Segmental Glomerulosclerosis).   Jaime's story highlights the importance of early detection, education, and advocacy for families navigating this challenging condition. She discusses her partnership with Nephcure, a patient advocacy organization, and her mission to raise awareness about FSGS, especially among individuals of West African descent, who are at higher risk due to the APOL1 gene mutation.   Topics Covered: What is FSGS?: Understanding APOL1-mediated FSGS and its impact on kidney health. The Family's Journey: How high blood pressure led to Joshua's diagnosis, and the shock of discovering Jorden had the same condition. The Role of Genetics: Why individuals of West African descent are at greater risk and the importance of genetic awareness. Early Detection: How identifying symptoms early has helped Jaime's sons manage their health. Advocacy and Education: Jaime's work with Nephcure and her efforts to raise awareness globally, including in Ghana. Parenting Through Challenges: Jaime's emotional journey as a mother and her advice for other parents navigating rare diseases.   Key Moments: Jaime explains how her family discovered FSGS and the challenges they faced in obtaining a diagnosis. Insights into the genetic factors behind APOL1-mediated FSGS and its prevalence in specific populations. Advocacy efforts to educate families and healthcare providers about the disease.   Guest Bio: Jaime is a wife and mother of six. Her family resides in Alpharetta, GA. She is also a Forensic Interviewer and Podcast Producer at Tenderfoot TV. In 2021, her seemingly healthy 17 year old son, Joshua, was randomly diagnosed with high blood pressure. This led to additional testing and a diagnosis of Focal Segmental Glomerulosclerosis (FSGS), a rare genetic kidney disease. Later that year, her 25 year old son, Jorden, was also diagnosed with FSGS. This was shocking to the Albright Henighan family. How could they be at high risk of a disease that they had never heard of? They connected with Nephcure, a patient advocacy organization, for support and resources. They learned that 1 in 8 people of West African descent are at risk of APOL1 mediated FSGS due to a genetic mutation. Thanks to early detection, her sons are stable today but this is a rare outcome for FSGS patients due to a lack of education and barriers in the medical community. They decided to share their story across the United States and even in Ghana. Their goal is to educate and empower others. If caught early, there are medical interventions and clinical research trials that can save native kidneys and lives. There is hope for FSGS patients.   Resources Mentioned: Nephcure Kidney International: Advocacy and support for families affected by kidney diseases. Information on APOL1-mediated FSGS and genetic testing. Tips for recognizing early symptoms of kidney disease.   Connect with Us:  Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

Guest Amy Raskin shares her experience parenting a child living with type 1 diabetes (T1D) and celiac disease. Amy shares her personal experiences, the challenges her family has faced, and the strategies they've developed to support her son Andrew's health and well-being.   Amy Raskin is a pioneer in global thematic investing and widely respected as a bold thought leader. As the Chief Investment Officer of Chevy Chase Trust since February 1, 2014, she has propelled the firm to a leadership position in thematic investing, a small, but rapidly growing approach to investing that MSCI recently added to its universe of style categories. Under her leadership, Chevy Chase Trust has outperformed its global benchmark in each of the last nine years; it is in the top decile of managers for the last 10 years. Amy is also a monthly guest on CNBC.   Prior to joining Chevy Chase Trust, Amy was Senior Vice President at AllianceBernstein in New York, serving as Director of Research for Thematic Portfolios, Director of Research on Strategic Change, head of U.S. & Global Growth Equity Research and Chief Investment Officer of AB Venture Capital Fund. The Research on Strategic Change team published in-depth research papers on a wide range of thematic investment topics, such as broadband, China, hybrid vehicles, climate change and molecular medicine.   Earlier, she worked as an investment banker at Lehman Brothers and as a research analyst at Donaldson, Lufkin & Jenrette. Amy graduated from the University of Pennsylvania's School of Engineering and Applied Science with a Bachelor of Science in Engineering. She currently serves on the Boards of UPenn's Engineering School and of the T1D Fund, which is a venture capital fund focused on finding a cure to Type 1 diabetes.   Topics Covered: Understanding Type 1 Diabetes: What T1D is, how it differs from adult-onset diabetes, and the symptoms to look for. A Family's Journey: Andrew's diagnosis, the path to confirmation, and how the family adapted to his needs. Living with Celiac Disease: The symptoms, diagnosis, and how it intersects with managing T1D. Daily Life Adjustments: Modifying the home, navigating school and friendships, and encouraging independence. Sibling Dynamics: How Andrew's older brother, Jason, has adjusted to the care and attention Andrew requires. Advice for Parents: Amy's wisdom for families facing T1D, celiac, or other chronic conditions. Key Moments: Amy discusses the emotional and practical aspects of explaining T1D to her children. Insights into managing dual diagnoses of T1D and celiac disease. Strategies for balancing a demanding career with the complexities of parenting a child with chronic health conditions. Resources Mentioned: T1D Fund Camp Sweeney Break Through T1D  Findmeglutenfree.com Hole In The Wall Gang Camp   Connect with Us: Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

Co-host Cathy Gildenhorn takes on the interviewer role to explore the personal story of her co-host, Beth Glassman. Beth shares her journey of living with a childhood autoimmune disease, offering insights into her diagnosis, its impact on her early life, and how it shaped her perspective as an adult.   On Episode #54, Beth interviewed Cathy about her journey to parenthood through infertility and adoption. Now, the roles are reversed as Cathy delves into Beth's experiences, highlighting the challenges, lessons, and resilience that come from growing up with an autoimmune condition called uveitis.    Topics Covered: Diagnosis and Early Understanding: Beth's initial diagnosis, symptoms, and how her healthcare providers and family explained the condition. Family and Social Dynamics: How her family responded to the diagnosis and whether Beth discussed her condition with friends, teachers, or counselors. Navigating Childhood and Adolescence: The impact of the disease on her education, sports, and ability to drive. Living with an Autoimmune Disease: Beth's thoughts on the potential for passing the condition to her children and how her vision has changed over time. A Healthy Lifestyle: How her childhood experience influences her approach to health and wellness today. Advice for Parents: Beth's guidance for parents raising children with health challenges.   Key Moments: Beth describes how her autoimmune disease affected her vision and how she explains it to others. The importance of open communication with family, friends, and educators about living with a chronic condition. Reflections on resilience and the power of support systems during childhood.   Connect with Us: Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In this heartfelt episode of It Happened To Me, we're turning the microphone inward as co-host Beth Glassman interviews her co-host and dear friend, Cathy Gildenhorn. Cathy shares her deeply personal journey through family planning, recurrent miscarriages, and adoption, offering hope and guidance to listeners navigating similar challenges. Cathy's story is one of resilience, love, and the transformative power of creating a family through adoption. From the emotional toll of miscarriages and ectopic pregnancies to the joy of welcoming her children into her life, Cathy provides an honest and inspiring look at her path to motherhood. Topics Covered: The emotional and physical challenges of recurrent pregnancy loss (miscarriages)  Understanding ectopic pregnancies and the medical procedures involved The role of hormones in fertility treatments and their potential health risks Deciding to pursue adoption: expectations, processes, and challenges Choosing an adoption agency and navigating the legal requirements Sharing adoption stories with children and discussing birth parents Reflections on the adoption experience and advice for others Cathy's openness and compassion shine through as she discusses how her experiences have shaped her perspective on family and advocacy. Whether you're considering adoption, struggling with infertility, or simply looking for an inspiring story, this episode is a must-listen. Resources Mentioned: Gladney Center for Adoption  National Council for Adoption The Barker Adoption Foundation  It Happened To Me's Episode #41 Colleen Gioffreda also shares her experience adopting children and helping other kids be placed with families.  Connect with Us: Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In this episode of It Happened To Me, co-hosts Beth Glassman and Cathy Gildenhorn sit down with Laura Bonnell, a seasoned journalist with 25 years of experience in Detroit, founded The Bonnell Foundation in 2010 after her daughters, Molly and Emily, were born with cystic fibrosis (CF). Despite having ten siblings between them, Laura and her husband, Joe, had no idea they were carriers of the disease, as no one else in either family had been diagnosed with CF. Driven by her personal experience and professional expertise, Laura used her platform as a reporter to raise awareness about CF. Before establishing The Bonnell Foundation, she actively raised funds for the Cystic Fibrosis Foundation, participating in the Great Strides Walk fundraisers and speaking at CFF events. Bonnell also organized events like the first Celebrity Softball game with the Detroit Tigers' wives and launching the "Portraits of Cystic Fibrosis" calendars in 2003—both of which are integral to The Bonnell Foundation's fundraising efforts today.  Through her foundation, Laura continues to advocate tirelessly for those affected by CF, leveraging her journalistic skills to amplify the cause and support the CF community. Topics Covered: Understanding Cystic Fibrosis: What it is, how it affects the body, and the daily medical routines required to manage it. Personal Journey: Laura's experience with her daughters' diagnoses and the challenges her family faced. Advocacy Through Journalism: How Laura's skills as a journalist influenced her podcast, Living With Cystic Fibrosis, and her advocacy work. The Bonnell Foundation: From organizing the first Celebrity Softball game with the Detroit Tigers' wives to producing the "Portraits of Cystic Fibrosis" calendars, Laura discusses her foundation's mission and impact. Challenges and Progress: The evolving landscape of CF treatment, including the life-changing potential of medications like Trikafta. Community Support: How The Bonnell Foundation helps families navigate life with CF and fosters a sense of connection. Resources Mentioned: The Bonnell Foundation The Bonnell Foundation Facebook The Bonnell Foundation X The Bonnell Foundation Instagram Living With Cystic Fibrosis Podcast Connect with Us:  Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.   

In this episode of It Happened To Me, we're honored to welcome Sam Ahlstrom, father to Zoey, a remarkable young girl living with Rett syndrome. Sam shares his family's journey from diagnosis to advocacy, offering an inspiring look into how they've transformed challenges into opportunities for connection and innovation. Rett syndrome is a rare neurological disorder that impacts nearly every aspect of life, from mobility to communication. Sam recounts his family's experience navigating this complex condition, from recognizing the early signs to adapting their daily routines. He also discusses the emotional and practical hurdles they faced as parents and how they found strength through community and creativity. Highlights from the Episode: What is Rett syndrome? Sam explains the condition and its impact on individuals like Zoey. The diagnostic journey: How Sam and his wife Sarah discovered Zoey's condition and adapted to the new challenges it brought. Creating connection during isolation: The inspiration behind the pRETTy happy. podcast, which became a lifeline for their family and others during the pandemic. Innovative solutions for complex needs: Sam shares the mission of pRETTy happy. place, the company he and Sarah founded to develop adaptive equipment and toys that bring joy and independence to individuals with complex medical needs. Building a community: Sam reflects on the importance of connection and support for families navigating rare diseases like Rett syndrome. Key Takeaways: The power of resilience: How Sam's family turned challenges into opportunities for advocacy and innovation. The importance of community: Building connections with others who understand the journey can make all the difference. Creativity in action: How pRETTy happy. place is making life easier and more joyful for families like theirs. Resources: Listen to the pRETTy happy podcast Check out pRETTy happy place's shop pRetty happy place's Ep 23 and Ep 24 with Colleen English    Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In this episode of It Happened To Me, we dive into the world of Niemann-Pick Type C (NPC), a rare genetic condition that affects fewer than 1,000 people in the United States. NPC is a progressive disorder impacting the brain, nerves, and major organs, often referred to as "childhood Alzheimer's" due to its neurological effects. Our guests bring both personal and professional expertise to the conversation: Barbara Lazarus is the mother of two adult sons (now in their 30s), who have Niemann-Pick Type C disease.  David is taking Myplyffa, through an expanded access program.  Both David and her brother Daniel have been seen at UCSF Benioff Oakland Children's Hospital in the Bay Area of California.  She is a knowledgeable patient advocate of NPC.  Dr. Caroline Hastings is a Pediatric Hematologist Oncologist and Professor of Pediatrics at UCSF Benioff Children's Hospital Oakland. In addition to her specialization in pediatric cancer and blood diseases, including a focus on tumors of the brain and spinal cord, her clinical and academic interests have focused on children and adults with rare lysosomal storage diseases. Her particular area of expertise and interest is in Niemann-Pick Type C disease, a rare debilitating genetic disease that until now has been elusive to a therapeutic intervention. She has been involved in developing new drugs and treatment strategies with the hope to improve quality of life and longevity for these patients.C. Together, they provide a comprehensive look at NPC, from its symptoms and genetic causes to the challenges of diagnosis and the hope brought by new FDA-approved treatments like Miplyffa. Topics Discussed: How Niemann-Pick Type C affects the body. Early signs, symptoms, and progression of NPC in children and adults. The genetics of NPC and its inheritance patterns. The challenges of diagnosing such a rare condition and the role of genetic counseling. Insights into the newly FDA-approved treatment, Miplyffa, and its impact on patients like Barbara's son David. The importance of specialized medical centers for NPC care and the role of advocacy and community support. Key Takeaways: NPC is caused by mutations in the NPC1 and NPC2 genes, leading to the buildup of cholesterol and lipids in cells. Early diagnosis and specialized care are crucial for managing the condition and accessing treatments. The approval of Miplyffa marks a significant milestone, offering new hope for families affected by NPC. Resources Mentioned: UCSF Benioff Oakland Children's Hospital Neurology Center National Niemann Pick Disease Foundation Information on FDA-approved treatments like Miplyffa Connect with Us: Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.   

To celebrate our 50th episode we are honored to welcome Dr. Robert Bucelli on the show. He is a leading expert in neuromuscular neurology and a dedicated advocate for advancing treatments for neuromuscular disorders.  In this episode, Dr. Bucelli shares his wealth of knowledge on neuromuscular neurology, exploring topics such as: What neuromuscular neurology entails and who is affected. The role of genetics in diagnosing and treating neuromuscular disorders. Common symptoms, risk factors, and diagnostic approaches. How therapies like physical and occupational therapy play a role in management. Lifestyle modifications, including diet and exercise, to minimize risk. The latest advancements in research and treatment, including ASO therapy. Strategies for coping with the challenges of living with neuromuscular conditions. Dr. Bucelli has been a practicing neurologist at the ALS Clinic since 2011. He is an Associate Professor of Neurology at the Washington University School of Medicine in St. Louis where he serves as the Site Principal Investigator on several clinical studies relating to ALS.   After graduating summa cum laude from Canisius College in Buffalo, New York with a degree in biology, Dr. Bucelli went on to receive his medical degree and PhD from the State University of New York at Buffalo as part of the Medical Scientist Training Program. He then completed an internship in internal medicine and postgraduate residency in neurology at Barnes-Jewish Hospital and the Washington University School of Medicine, followed by a postgraduate Clinical Fellowship Training Program in the Department of Neurology's Neuromuscular Section, also at Barnes-Jewish and Washington University. He is also a graduate of the Washington University and Barnes-Jewish Hospital Academic Medical Leadership Program for Physicians and Scientists.   Dr. Bucelli is expert in diagnosing and treating neuromuscular disorders including amyotrophic lateral sclerosis. He also reads and interprets muscle and nerve biopsies to aid in the diagnostic evaluations of patients seen at Washington University and many additional outside institutions. Dr. Bucelli's clinical expertise guides exemplary multidisciplinary ALS care in the neuromuscular clinic. His skill in delivering drugs to the fluid surrounding the spinal cord has enabled Dr. Bucelli's and Washington University's leadership in trials using to turn off the production of harmful genes that cause ALS.   Dr. Bucelli has received numerous awards for excellence in teaching and clinical work at Washington University. He is a five-time recipient of the Eliasson Award for Teaching Excellence and has authored over 40 peer-reviewed manuscripts. He is a frequently invited guest lecturer and presenter at regional and national conferences.   Stay tuned for the next new episode of “It Happened To Me” in the New Year on January 6th, 2025! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.   

In this inspiring episode of It Happened To Me, hosts Cathy and Beth sit down with Alex Brito, a remarkable advocate in the rare disease community and one of the first 100 individuals diagnosed with neuromyelitis optica spectrum disorder (NMOSD). NMOSD is a rare neurological disease that affects an estimated 6,000 Americans, causing severe and unpredictable relapses that can lead to vision loss, chronic pain, and paralysis. Alex shares her journey, from the challenges of misdiagnosis and temporary paralysis to her empowering outlook on life with NMOSD—she affectionately refers to the condition as “her bestie.” Alex's dedication to advocating for individuals with disabilities is evident in her work teaching adaptive technology to those with vision loss. Her incredible resilience is matched by her active lifestyle, which includes powerlifting and earning the distinction of being the first blind woman to achieve a yellow belt in Krav Maga. Listeners will also learn about Alexion's short film, Rare Connections in NMOSD (Accessible Version), which highlights Alex's story and helps raise awareness about this rare disease. Key Takeaways: What is NMOSD, its symptoms, and the challenges in diagnosing this rare condition. Alex's personal journey with NMOSD, including vision loss, paralysis, and finding strength in adversity. The importance of adaptive technology and how Alex empowers individuals with vision loss. Alex's inspiring accomplishments as a powerlifter and martial artist. Insights into Alexion's short film Rare Connections in NMOSD and its impact on awareness and advocacy. Resources Mentioned in This Episode: Watch Alexion's short film, Rare Connections in NMOSD here Alex mentioned using JAWS, a screen reading program for those with vision difficulties Support organizations for NMOSD that Alex recommends in the episode are The Guthy-Jackson Foundation and The Sumaria Foundation Learn more about NMOSD through the organization NMOSD Won't Stop Me  Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In this episode of It Happened To Me, we are honored to speak with Dr. Susan W. Liebman, a trailblazing molecular geneticist whose work has revolutionized our understanding of protein misfolding diseases such as ALS and Alzheimer's. Dr. Liebman has spent her career using yeast as a model organism to uncover the mechanisms behind these diseases, advancing the field of molecular genetics.  With over 100 publications in leading journals, including Nature, Science, and Cell, and more than $13 million in research funding, her contributions to the field are substantial. Susan began her scientific journey as one of MIT's early female undergraduates (B.S. 1968) and went on to earn advanced degrees from Harvard (M.S. 1969) and the University of Rochester (Ph.D. 1974) medical schools. In addition to her research, she taught genetics to undergraduate and graduate students for more than 35 years.   Dr. Liebman joins us to discuss her newly released book, “The Dressmaker's Mirror: Sudden Death, Genetics, and a Jewish Family's Secret”. The book delves into her family's journey of uncovering a previously unknown heart disease gene, blending scientific discovery with a deeply personal narrative of love, loss, and resilience.     Key Topics Discussed in This Episode: - The Discovery of a Genetic Mutation: Dr. Liebman shares how the sudden passing of her niece led to the identification of a deadly mutation in her family and how this discovery has impacted their lives.   - Understanding Genetic Risks: Insights into the FLNC gene, its role in cardiomyopathy, and how carriers can manage their health.   - The Role of Genetic Testing and Counseling: How family history and genetic counselors play pivotal roles in guiding families through difficult medical decisions.   - Barriers to Genetic Testing: Challenges in accessing cardiomyopathy genetic testing and how healthcare systems can address these issues.   - Balancing Science and Faith: Navigating religious beliefs and social stigmas while providing potentially life-saving medical care.   - Population-Wide Screening: Ethical and medical implications of screening for genetic mutations prevalent in specific populations, such as Ashkenazi Jews.   - Inspiring Women in Science: Dr. Liebman reflects on her groundbreaking career as a woman in molecular genetics during an era when the field was male-dominated.     Dr. Liebman's story is a testament to the power of science, family, and resilience. Through her research and advocacy, she has brought attention to the FLNC gene, which is now recognized by the American College of Medical Genetics (ACMG) as actionable, paving the way for improved cardiac care and genetic testing protocols.   It Happened To Me Podcast Episodes Referenced:   #24 Neuro-Ophthalmic Disorders with Dr. Andrew Carey #27 Prevention of Blindness Society   Additional Resources: The American College of Medical Genetics Actionable Genes List including the FLNC Gene Dr. Liebman urges families to bank family's DNA, so it's available for genetic testing in the future. She specifically recommends Securigene during the interview.    You can win a free copy of “The Dressmaker's Mirror”! Head over to our Executive Producer's Kira Dineen's podcast's Instagram, X and LinkedIn posts to enter the giveaway. You can also enter the Goodreads giveaway for additional opportunities. Can't wait to see if you won? Buy a copy of the book through the publisher (with code RLFANDF30) or on Amazon.    You can learn more about the author Dr. Susan Liebman, on her website here. If you are interested in booking her as a speaker check out her Media Kit here, you can reach out to our host Kira Dineen (info@DNAtoday.com) as she is also her Book Launch Agent!    Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In this powerful and educational episode of It Happened To Me, we sit down with Rachel Schreiman who turned her personal struggle with vision loss into a mission to support others. Rachel shares her story of resilience after experiencing two episodes of Non-Arteritic Anterior Ischemic Optic Neuropathy (NAION), a rare and debilitating eye condition caused by insufficient blood flow to the optic nerve. These episodes left her with significant central vision loss, but instead of giving up, Rachel embraced a new path.   Rachel Schreiman is a CPA and musician who holds an MBA from the University of California, Irvine. In 2019 while working as the Controller for a trade association in Washington DC, she suffered two episodes of Non-arteritic anterior ischemic optic neuropathy (NAION), rendering her legally blind with significant central vision loss. After receiving rehabilitation care and training she started a new "career" devoted to others with low vision. She now works for Dr. Suleiman Alibhai OD, a low vision rehabilitation optometrist, and as a Resource Navigator for the Prevention of Blindness Society of Metropolitan Washington (POB). Both of these positions allow her to give back to others with low vision by sharing information about resources and demonstrating how to use many of the devices, assistive technologies and applications available that allow users to live full and independent lives.   Key Topics Discussed:   The Onset of NAION:  Rachel recounts the initial episode of NAION in 2019, the symptoms she experienced, and her journey to diagnosis. She describes NAION as a "stroke in the eye," explaining how lack of blood flow to the optic nerve led to significant vision loss.   Risk Factors and Triggers for NAION: Rachel discusses possible risk factors, such as sleep apnea and cardiovascular issues, which can contribute to the development of NAION. She shares insights into lifestyle adjustments and precautions she now takes to help manage her health.   Navigating a Second Episode:   Five months after the first NAION episode, Rachel suffered another in her other eye. She reflects on the impact of this second event, the rapid response from her medical team, and the steps she took to prepare for further adaptation to vision loss.   Diagnosing and Treating NAION:   Rachel describes the challenges of diagnosing NAION, which can be easily mistaken for other conditions such as multiple sclerosis, brain tumors, or stroke. She also explains the diagnostic process and the types of specialists who are essential for accurate diagnosis and care.   Adapting to Vision Loss: Rachel opens up about the difficult decision to stop driving and the profound impact it had on her independence. She shares the changes she made in her home and daily routines, along with the support she received from her husband and family, which helped her navigate life with low vision.   Coping Strategies for Low Vision:   Rachel reveals the practical and emotional strategies she uses to cope with vision loss, from using assistive technologies to finding new hobbies and ways to stay connected with her passions.   Advocacy and Empowerment in Low Vision Care:   Through her roles with Dr. Alibhai and the POB, Rachel describes her work in educating others about low vision resources, providing hands-on training with assistive devices, and guiding patients and their families through the journey to independence. She also highlights the services POB offers for those with low vision and encourages listeners to seek support early in their vision loss journey. Resources Mentioned:   - Episode 24 with Dr. Andrew Carey – For more on optic neuropathies, including NAION, check out our conversation with neuro-ophthalmic specialist Dr. Carey. - Episode 27 with Prevention of Blindness – Learn more about POB's programs and resources for individuals with low vision on POB's website.  - Assistive Technology Resources – Recommended apps and devices for managing life with low vision: Seeing AI, VoiceDream, BeMyEyes, Aira.    Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

To learn about colon cancer, we are joined by Gabrielle Shermanski. Gabrielle Shermanski completed her Master of Science in Human Genetics at Sarah Lawrence College in 2020. She is a licensed, board-certified Genetic Counselor at Geisinger with 4 years of clinical experience in adult oncology. Gabrielle's primary interests include helping patients with inherited breast cancer syndromes and inherited GI syndromes facilitate further care and communicate results to family members. Gabrielle has a strong interest in education, mentorship, and outreach opportunities. Her hobbies outside of work include cooking and hanging out with her puppy, RJ.   During the episode Gabrielle mentioned the National Comprehensive Cancer Network's colon cancer guidelines, which you can find here.    Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

In the second part of our conversation with Zach Ship, hosts Cathy and Beth explore the next chapter of his journey—an unexpected health crisis that led to blindness and hearing loss.    Before listening to this episode, check out the first part of our conversation with Zach about his kidney transplant. This is our previous episode (#44).    While on vacation in Madrid, Zach suffered from encephalitis, or brain inflammation that resulted in a vasculitis, which is effectively a stroke to the eyes. This episode dives deep into Zach's physical and emotional recovery, the challenges of adapting to a new way of life, and his determination to thrive despite the obstacles.   Zach recounts the difficult early days after losing his sight and hearing, his extensive rehabilitation process, and how he rediscovered a sense of purpose through work, blind baseball, and advocacy for the disabled community. Guest Bio: Zach Ship is the Director within the Finance organization at Harry's Inc., where he continues to work full-time after adapting to significant vision and hearing loss. After a health crisis led to blindness, Zach embarked on a new chapter of life, tackling new challenges with optimism and determination. He is passionate about disability advocacy and is involved in blind baseball. Key Discussion Points: The Health Crisis in Madrid: While on vacation, Zach began experiencing symptoms of encephalitis, a serious brain inflammation that led to a stroke. He details the events that led to him being hospitalized and the devastating impact on his vision and hearing. Coming to Terms with Blindness: Zach describes the shock of waking up in the hospital unable to walk, see, or hear properly. He shares his initial emotions and how he began to come to terms with the reality of his new situation. Rehabilitation and Learning to Adapt: After a month in the hospital, Zach spent an extended period in a rehabilitation facility learning to walk and care for himself again. He reflects on the physical and emotional toll of the rehab process and how he adapted to the challenges of daily life as a blind person. Returning to Work: Zach shares how Harry's Inc. supported him during his recovery and the accommodations they made when he returned to work full-time. He offers insights into the workplace adjustments necessary for someone with visual and hearing impairments. Blind Baseball and Advocacy: Zach found a new passion in blind baseball and has since become a strong advocate for the disabled community. He explains how blind baseball helped him rediscover his love for sports and provided a sense of camaraderie and accomplishment.   During the episode Zach mentioned our most popular episode was with Brooke Eby (Episode #16). He also mentioned JAW, Job Access With Speech, which is the world's most popular screen reader, developed for computer users whose vision loss prevents them from seeing screen content or navigating with a mouse.   Check out the upcoming documentary that Zach will be featured in here. If you are feeling generous you can also consider donating to the documentary's funding here!    Another resource we want to highlight is organdonor.gov, where you can learn more about organ donation. Zach's strength and positivity shine through in this episode as he describes how he has adapted to life after losing his sight and hearing. His journey is a powerful reminder that even in the face of immense challenges, it is possible to find new passions and live a fulfilling life.  Stay tuned for the next new episode of “It Happened To Me”. In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In this episode of It Happened To Me, hosts Cathy and Beth sit down with Zachary Ship, a remarkable individual who has faced incredible health challenges. This is part one of the conversation where Zach shares the powerful story of how his mother, Shari, donated a kidney to save his life. Shari was a guest on our last episode of It Happened To Me (#43). At just 19 years old, Zach was diagnosed with end-stage renal failure due to an autoimmune disease. He takes us through the emotional rollercoaster of receiving a life-saving transplant from his mother while navigating the challenges of young adulthood. From the first signs of illness as a teenager to his recovery after the transplant, Zach's journey is one of resilience, family strength, and determination. Tune in to hear how Zach's life was forever changed and how he adapted after receiving the gift of life from his mom. Guest Bio: Zach Ship is the Director within the Finance organization at Harry's Inc. A graduate of NYU's Stern School of Business, Zach was diagnosed with end-stage renal failure during his freshman year of college, resulting in a kidney transplant from his mother. Zach's incredible journey to recovery is a testament to his strength and his family's support. Key Discussion Points: The First Signs of Trouble: Zach shares how a routine urine test for sports led to the discovery of a serious autoimmune disease that attacked his kidneys, forever altering the course of his life. A Family United: As Zach's health declined, his mother Shari stepped forward as his kidney donor. Zach describes the process of preparing for the transplant and the emotions involved in receiving such a profound gift from his mom. Facing Kidney Failure at 19: At an age when most people are focused on college and social life, Zach was told he was in end-stage renal failure. He details the physical toll of renal failure, the symptoms, and the medical interventions required. The Transplant Experience: Zach explains the transplant surgery itself, what it felt like to receive his mother's kidney, and how the medical team managed the process to ensure a successful outcome. Life After the Transplant: Zach returned to school just a month and a half after the surgery, a remarkable recovery. He reflects on the precautions he had to take post-transplant and how he adapted to life after the operation, learning to navigate new health challenges while trying to live a normal college life. Please help support Zach by making a donation for his team's travel funds so they can compete in 2024 World Baseball Softball Confederation's (WBSC) Blind Baseball International Cup taking place just outside of London. The United States Blind Baseball Association (USBBA) is a charitable, non-profit corporation. USBBA is dedicated to the development, management, regulation and promotion of their mixed gender adaptive sport of Blind Baseball. If you are able to assist us in our 2024 fundraising efforts, please make checks payable to U.S. Blind Baseball Association, and mail to the address below or use these QR codes to send money through Venmo or PayPal.    U.S. Blind Baseball Association P.O. Box 312 Lindenhurst, NY 11757   Another resource we want to highlight is organdonor.gov, where you can learn more about organ donation.   Check out the documentary that Zach will be featured in here. If you are still feeling generous you can also consider donating to the documentary's funding here!  Stay tuned for the next new episode of “It Happened To Me” where we continue our conversation with Zach to learn about his vision loss and adapting to this disability as an adult! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

Shari Ship's story is a remarkable tale of a mother's unwavering love and sacrifice for her son. As a widow and caregiver to her 97-year-old mother, Shari selflessly donated a kidney to her son Zachary, who was diagnosed with a rare autoimmune disease called membranous nephropathy that attacked his kidneys. Despite the challenges of caring for her ailing husband who passed away from lung cancer, Shari remained steadfast in her commitment to her family.   When Zachary's condition worsened, leading to end-stage renal failure, Shari made the courageous decision to become a living kidney donor for her son. With the support of her 85-year-old mother and the compassionate medical team, Shari underwent a rigorous testing process, including a psychiatric evaluation, to ensure her eligibility as a donor.   The transplant surgery was a success, despite a last-minute scare, and Zachary's life was saved. Shari endured the pain and recovery process with determination, fueled by the immense love for her son. Zachary's immediate improvement, from "drowning in his own fluid" to urinating normally, was a testament to the transformative power of this selfless act.   Shari's inspiring story highlights the strength of a mother's love, the resilience of the human spirit, and the profound impact of organ donation in saving lives. Her unwavering support and her son's remarkable recovery serve as a beacon of hope for families facing similar challenges.   Key Lessons   Shari Ship's selfless act of donating a kidney to her son Zachary, who later became visually impaired.   Shari's courageous decision to donate her own kidney when Zachary's condition worsened, demonstrating her unwavering commitment to her son's well-being.   The family's resilience and the power of a parent's love, as evidenced by Zachary being described as "indomitable" despite the challenges they faced.   Please help support Shari's son Zachary by making a donation for his team's travel funds so they can compete in 2024 World Baseball Softball Confederation's (WBSC) Blind Baseball International Cup taking place just outside of London. The United States Blind Baseball Association (USBBA) is a charitable, non-profit corporation. USBBA is dedicated to the development, management, regulation and promotion of our mixed gender adaptive sport of Blind Baseball. If you are able to assist us in our 2024 fundraising efforts, please make checks payable to U.S. Blind Baseball Association, and mail to the address below or use these QR codes on our website (ithappenedtomepod.com) to send money through Venmo or PayPal.  U.S. Blind Baseball Association P.O. Box 312 Lindenhurst, NY 11757 Another resource we want to highlight is organdonor.gov, where you can learn more about organ donation. In the next new episode of “It Happened To Me” we interview Shari's son Zachary about his perspective on the experience about his health issues. In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In this episode of It Happened To Me, hosts Cathy and Beth are joined by Tanita Allen, a resilient advocate for Huntington's Disease (HD) and the author of the touching memoir, We Exist. Tanita shares her personal journey with HD, from her initial symptoms and challenging diagnostic process to her current role as a self-advocate and member of The HD Community Advisory Board.   Tanita discusses the complexities of living with HD, a condition often described as a combination of Parkinson's, ALS, and Alzheimer's. She offers insight into the importance of genetic testing, the impact of environmental factors on her early onset, and the emotional journey of being the first in her family to be diagnosed with this rare genetic condition. Additionally, Tanita shares her five key strategies for maintaining a hopeful disposition in the face of medical challenges.   Tanita Allen is a dedicated advocate for Huntington's Disease and the author of *We Exist*, a memoir documenting her journey with HD. She holds a Bachelor of Arts in Public Affairs and is a certified paralegal. Tanita's advocacy work is enriched by her extensive experience in customer service and sales. She is a member of The HD Community Advisory Board and has been featured in Forbes, where she discussed the significance of self-advocacy and collaboration.   Key Discussion Points:   Understanding Huntington's Disease (HD): Tanita describes HD as a trifecta of Parkinson's, ALS, and Alzheimer's. She shares her experiences with the hallmark symptoms and discusses the prevalence of HD in the population. Diagnostic Journey: Tanita opens up about the challenges she faced in receiving a diagnosis, particularly the added complexity of being a Black woman. She details her experience with genetic testing, including the significance of CAG repeats in the HTT gene and how her results correlated with her early onset of symptoms. Emotional Impact and Family Dynamics: Tanita reflects on how she processed her diagnosis and the emotional toll it took, especially as the first person in her family to be diagnosed with HD. She also shares the story of another family member who was later diagnosed. Five Strategies for Hope: Tanita outlines the five key strategies she discusses in her book for maintaining a hopeful outlook:Embracing Change and Adapting Learning from Difficult Moments The Power of Community Celebrating Milestones Making Self-Care a Priority Advice for Others: Tanita offers parting advice for those facing medical challenges, emphasizing the importance of self-care, community support, and staying hopeful. Please check out Tanita's book, “We Exist”. You can order a copy directly from her website, tanitaallen.com. Also check out her Forbes article, “Why Self-Advocacy Can Help You Become An Invaluable Collaborator”.    Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.   

“The most charming person I have ever met” is how our host Beth describes the guest in this episode, so you are in for a treat. We have the dynamic, charismatic Colleen Gioffreda! Colleen is the Clinical Operations Program Administrator for the Greenberg Center for Skeletal Dysplasias in the Department of Genetic Medicine at the Johns Hopkins University School of Medicine. She handles patient inquiries, coordinates the Little People of America (LPA) Medical Advisory Board clinics at the national conferences and regionals, provides school/social resources to patients and parents, and also manages budgets and databases.    In her volunteer life, Colleen is LPA's Adoption Coordinator, and has helped facilitate the adoptions of over 400 children with dwarfism for the past seventeen years. She is also the Chair of the LPA Conference Management Committee and is a member of LPA's Medical Advisory Board.    Colleen is lucky enough to answer to the name of ‘Mom' to her four children, who also all happen to have achondroplasia, the most common form of dwarfism. She views having achondroplasia as an opportunity, and feels fortunate to have experienced such a unique and rich adventure in life.    Since our Executive Producer, Kira Dineen, is also a genetic counselor, she joins as a guest host in this episode.    Episode Highlights:   Understanding Terminology and Accommodations: Appropriate terms for individuals with achondroplasia and skeletal dysplasias. Vital accommodations for people with dwarfism in various aspects of life.   Home Modifications and Misconceptions: Recommended home alterations for individuals affected by dwarfism. Addressing misconceptions and stereotypes about dwarfism in her work.   Employment and Workplace Challenges: Employment roadblocks faced by little people and necessary workplace accommodations.   Career Path and Key Responsibilities: Colleen's journey towards helping the skeletal dysplasia community. Key responsibilities in her role, including patient inquiries and coordinating medical advisory board clinics.   School and Social Resources: Providing school and social resources to patients and parents. Importance of this support in managing skeletal dysplasias.   Adoption Advocacy: Motivations for becoming involved in adoption advocacy. Experiences and insights from facilitating adoptions of children with dwarfism. Countries with higher frequencies of children with dwarfism waiting to be adopted.   LPA Conference Management: Involvement in the LPA Conference Management Committee and the significance of organizing conferences. Memorable and rewarding experiences supporting individuals and families.   Parental Support: Approaching support and resources for parents raising children with achondroplasia.   Community Advocacy and Medical Collaboration: Pressing issues within the dwarfism community and advocacy efforts. Response to FDA-approved treatment for achondroplasia (VOXZOGO® (vosoritide)) and differing viewpoints. Collaborating with medical professionals and researchers to advance understanding and treatment.   Personal and Professional Perspective: Influence of personal experience with achondroplasia on professional approach. Current initiatives and projects to support individuals with skeletal dysplasias.   Future Hopes and Advice: Hopes for the future of care and support for individuals with dwarfism. Advice for professionals and volunteers supporting individuals with rare genetic conditions.   Colleen Gioffreda shares invaluable insights into the world of dwarfism, from personal experiences to professional advocacy. Her work with the Greenberg Center and LPA highlights the importance of community, support, and dedicated advocacy for individuals with skeletal dysplasias.   Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

In this insightful episode of It Happened To Me, we are joined by Ryan Hodgkinson, a highly respected Pilates instructor whose journey into fitness was profoundly shaped by his personal battle with Crohn's disease. With over two decades of experience in martial arts and personal training, Ryan has developed a unique approach to Pilates that caters to the individual needs of his clients. Ryan Hodgkinson,  PMA® CPT, ACE CPT, was first introduced to Pilates by his sister Heidi, a licensed Physical Therapist and certified Pilates Instructor, to help him with ruptured discs he suffered as a result of numerous abdominal surgeries.   Recognizing the benefits that Pilates provides towards overall health and physical fitness, he completed his 750 hour comprehensive Pilates Machine and Apparatus​​.   Certification in 2008 and has been teaching Pilates full-time ever since. In addition to teaching Pilates, Ryan is a Certified Personal Trainer, TRX Instructor and has 23+ years practicing and teaching martial arts. Ryan draws from all aspects of his training and years of experience to create tailored programs for individual client's needs. ​   Episode Highlights:   Understanding Crohn's Disease: Definition: An inflammatory disease causing swelling in the digestive tract, often affecting the small intestine. Symptoms: Diarrhea, fever, fatigue, abdominal pain, blood in stool, mouth sores, reduced appetite, and more. Complications: Bowel obstructions, ulcers, fistulas, malnutrition, increased colon cancer risk, and other health problems.   Diagnosing and Treating Crohn's: Diagnosis: Typically involves a combination of medical history, physical exams, and specialized tests. Causes and Risk Factors: Unknown exact cause; factors may include immune system triggers, heredity, age, ethnicity, and certain medications. Treatment: Anti-inflammatory drugs, corticosteroids, immune system suppressors, and biologics.   Ryan's Personal Journey: Diagnostic Journey: Insights into how Ryan's journey with Crohn's began. Impact of Martial Arts: The role of karate in Ryan's physical and emotional recovery. Living with Ostomies: Experiences and challenges during high school and college. Family and Advocacy: The crucial role of family support and advocacy in coping with Crohn's.   Transition to Pilates: Career Decision: How Ryan's health journey influenced his career in Pilates. Pilates and Chronic Pain: The benefits of Pilates for chronic back pain and overall health. Misconceptions about Crohn's: Debunking common myths based on Ryan's experiences.   Incorporating Pilates Principles: Principles: Concentration, control, core strength, fluidity, precision, and breathing. Training Programs: Tailoring programs for individuals with chronic pain or post-surgery recovery. Mind-Body Awareness: Enhancing overall well-being through Pilates.   Advocacy and Pain Management: Alternative Strategies: Advocating for alternatives to opioids, like Pilates and physical therapy. Personal Insights: Managing pain from scar tissue and nerve issues with specific exercises. Ryan recommends that people check out ostomy.org for further information.   Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

Genetic Counselor Amy Patterson shares about genetic screening and testing available for rare disease including her speciality of skeletal dysplasias.    Amy Patterson (she/her) is a licensed pediatric and adult genetic counselor in the Johns Hopkins Department of Genetic Medicine. She primarily works with patients in the Greenberg Center for Skeletal Dysplasias as well as the General Genetics clinic. Especially in the skeletal dysplasia space, Amy works to promote a holistic patient experience, including psychosocial counseling, connection with patient advocacy groups, informed consent, genetic testing and interpretation of results, coordination of care, and discussion of research options. Amy was a LEND Fellow and graduated from the Boston University Genetic Counseling program in 2021. She has focused much of her research and clinical work on the intersection of rare conditions, disability, and patient advocacy.   Amy initially started advocating in the rare disease space due to her best friend's sibling's rare genetic disorder, Congenital Hyperinsulinism. We actually interview their mother on Episode 37 of It Happened To Me. As a high schooler, Amy started educating their peers and community about rare disease on Rare Disease Day every year. After moving to Boston, she started volunteering at a Community Engagement Liaison for the Rare Action Network (RAN), the advocacy branch of NORD, then became the RAN Massachusetts State Ambassador. Through this work, she started putting on Rare Disease Day events at Boston Children's Hospital, and now at Johns Hopkins Hospital as a genetic counselor. Rare Disease Day allows all rare disease stakeholders to come together to share their experiences and continue to learn. Amy is passionate about this global effort to raise awareness and advocate for improved quality of life, diagnosis, and access to care for Rare patients and families.   Want to listen to our other episodes with genetic counselors?    In Episode 4, our Executive Producer, Kira Dineen, who is also a genetic counselor, shares how genetic counselors can help people navigate having a rare disease.    In Episode 7, Genetic Counselor Karen Grinzaid explains prenatal and cancer genetic testing. Kira also joins as a guest host since this is her area of expertise.    Want to speak to a genetic counselor? Find one in your area via FindAGeneticCounselor.org.     Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In this enlightening episode of It Happened To Me, we are joined by Dr. Tara Zier, founder of the Stiff Person Syndrome Research Foundation. Dr. Zier shares her personal journey with Stiff Person Syndrome (SPS), a rare and debilitating autoimmune disorder, and discusses her mission to advance research, treatments, and awareness for this condition. Introduction: Dr. Tara Zier, founder of the Stiff Person Syndrome Research Foundation Background on Stiff Person Syndrome: a rare autoimmune disorder characterized by muscle stiffness and painful spasms Key Discussion Points: Understanding Stiff Person Syndrome: Description and symptoms of SPS Impact on daily life for those affected Dr. Zier's Journey: Her personal experience with SPS and the path to diagnosis The challenges faced and the resilience shown Managing Symptoms: Current medications and therapies including muscle relaxers, infusions, plasma exchange, physical therapy, and more Medications and treatments to avoid for SPS patients Foundation's Mission and Goals: The establishment of the Stiff Person Syndrome Research Foundation Aims to fund research, develop treatments, and find a cure Collaborations and Achievements: Partnerships with the Stiff Person Syndrome Center at Johns Hopkins and the Mayo Clinic Contributions to the global patient community Insights into Research and Treatments: Current state of SPS research and available treatments The importance of raising awareness and public understanding Role of Patient Communities: The significance of patient communities in advancing research and providing support How the foundation fosters connections with patients worldwide Support Beyond Fundraising: Additional ways the foundation aids individuals and families affected by SPS Advice for Aspiring Advocates: Encouragement and guidance for those looking to establish foundations or support medical research for rare diseases Personal Reflections: Stories and experiences from the SPS community that have touched Dr. Zier Dr. Zier's personal strategies for maintaining mental health amidst her advocacy work Future Aspirations: Hopes and aspirations for the future of the Stiff Person Syndrome Research Foundation Vision for the field of SPS research and treatment Closing Remarks: Dr. Zier's final thoughts and gratitude for the opportunity to share her journey Encouragement for listeners to support SPS research and awareness initiatives Episode Links: Stiff Person Syndrome Research Foundation Follow Dr. Tara Zier on Twitter Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In this enlightening episode, we are joined by Julie Raskin, Chief Executive Officer of Congenital Hyperinsulinism International (CHI). Julie's journey began when her son Ben was born with congenital hyperinsulinism (HI), a condition that causes the overproduction of insulin leading to severe hypoglycemia. Determined to improve Ben's life and the lives of others affected by HI, Julie co-founded CHI in 2005.   Discussion Topics:   Julie shares her son Ben's story, his diagnosis with HI, and the journey that led to the formation of CHI. Symptoms of congenital hyperinsulinism (HI) and the challenges in diagnosing this rare condition. Genetic factors and inheritance patterns associated with HI, including the probability of siblings being affected. The impact of HI on Ben's childhood and current life. Julie's experiences and insights on managing HI and supporting a child with the condition. The story behind the founding of CHI and its mission to improve the lives of babies born with HI worldwide. Key challenges faced by families with HI diagnoses and how CHI provides support. CHI's Key Initiatives including the The HI Global Registry which documents the natural history of HI with over 559 participants from 53 countries. The HI Centers of Excellence designation program: Encouraging the highest standards of care for babies and children with HI. CHI's efforts in securing funding for research grants, supporting patients with emergency funds, and medication donations. Collaboration with expert clinicians, researchers, and biotech professionals to advance HI research and treatment. Insights from the virtual support group hosted by CHI, with over 2,300 family members participating. Importance of patient advocacy in rare disease research and healthcare policies, and CHI's role in this area. Julie's advice for families dealing with HI or other rare diseases based on her personal experiences. Ways individuals and organizations can contribute to CHI's mission and support HI-affected families. The future of HI research and treatment, and CHI's role in shaping this future.   Learn more about Congenital Hyperinsulinism International (CHI) and how you can get involved: at congenitalHI.org    Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

In the last episode of "It Happened To Me," (Episode 35) Marc Bassin shared his experience of sudden hearing loss in his left ear. After four years and countless healthcare providers, he went through with having a cochlear implant surgery.   The first interview in Episode 35 was recorded before his surgery. If you haven't yet listened to Marc's previous episode on the podcast, we highly recommend checking it out for a comprehensive understanding of his journey leading up to the surgery.    This episode was recorded after Marc recovered from the procedure and shares his experience. Marc's openness and candor provide valuable insights into the process of cochlear implantation and the transformative impact it has had on his life. If you haven't yet listened to Marc's previous episode on the podcast, we highly recommend checking it out for a comprehensive understanding of his journey leading up to the surgery.   Marc's professional career in commercial real estate and his active lifestyle as a "fitness freak" make his sudden hearing loss in one ear all the more unexpected. Despite the shock, Marc embarked on a courageous journey to seek medical attention and explore treatment options, ultimately leading him to undergo cochlear implant surgery.   Interview Highlights:   Onset of Hearing Loss: Marc provides a recap of the events leading to his sudden hearing loss in October 2019 and the decision to pursue medical attention. His proactive approach to seeking help underscores the importance of early intervention in addressing hearing issues.   Understanding Cochlear Implants: Marc offers valuable insights into cochlear implants, explaining the technology behind them and the method used to restore hearing. This discussion sheds light on the intricate process of cochlear implantation and its potential benefits for individuals with hearing loss.   Surgical Experience and Recovery: Marc walks us through his cochlear implant surgery experience, detailing the procedure and the emotions he encountered along the way. He shares his journey of recovery, from the immediate aftermath of the surgery to his progress in the months that followed.   Mapping and Adjustment: Marc discusses the second step in the process: cochlear implant activation, also known as mapping. He provides clarity on what mapping entails and shares his firsthand experience of adjusting to the newfound sounds and sensations.   Expectations and Challenges: Marc reflects on his expectations for the future of his hearing and the challenges he has faced post-surgery, including the impact of tinnitus and the adjustment to interpreting sounds anew. Despite the challenges, Marc remains optimistic about his ongoing recovery journey.   Marc's courage, resilience, and willingness to educate others about his experience serve as a source of inspiration for all facing similar challenges. As Marc continues his journey towards improved hearing and well-being, we stand in awe of his determination and strength.   Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

Despite leading an active lifestyle, Marc experienced a sudden and unexpected loss of hearing in his left ear, dramatically altering his daily life. Join us as Marc shares his courageous journey from the onset of hearing loss to his upcoming cochlear implant surgery.   Marc is not your typical real estate professional. With a penchant for adventure, he spends his leisure time biking thousands of miles annually, hitting the golf course, playing pickleball, and conquering ski slopes. However, his world was turned upside down on October 26th, 2019, when he encountered the startling reality of sudden hearing loss.   Interview Highlights:   Onset of Hearing Loss: Marc recounts the day when he first noticed the onset of hearing loss and the immediate steps he took to seek medical attention. Despite his active lifestyle, the sudden loss of hearing prompted Marc to pursue answers and solutions.   Diagnostic Journey: Marc shares insights into the consultations with various medical providers and the diagnostic tests involved in uncovering the cause of his hearing loss. From initial consultations to diagnostic tests, Marc sheds light on the medical journey he embarked upon.   Impact of Tinnitus: The presence of tinnitus added another layer of challenge to Marc's daily life, affecting his interactions and emotional well-being. Marc discusses the impact of tinnitus and how he navigated its effects on his daily activities and interactions.   Decision for Cochlear Implant: Marc opens up about the factors that led to his decision to undergo cochlear implant surgery, exploring alternative options and the anticipation surrounding the surgery scheduled for later in the week.   Coping and Support: Throughout his journey, Marc has relied on coping strategies, support from loved ones, and a positive outlook to navigate the challenges of hearing loss and isolation. He shares valuable insights into coping mechanisms and the importance of support networks.   As he prepares for his cochlear implant surgery, our thoughts and best wishes are with him. Marc's resilience and determination serve as an inspiration to all facing similar challenges of hearing loss and isolation.   Stay tuned for the next episode to hear how his cochlear implant surgery went and how it has or hasn't affected his hearing. In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

In this episode we have a special discussion lined up on Bloom Syndrome, featuring our guests Melanie and Lorne Yasbin, who will share their family's experience with this rare genetic disorder.   Melanie received her J.D. from Villanova School of Law, and a B.A. in Political Communications with a minor in religion from The George Washington University. After working for the Federal government for several years, Melanie joined a private practice where she represents railroads in negotiations with each other and before Federal agencies.Melanie dedicates time to causes and organizations whose missions speak to her. She currently serves on the Boards of the JCC of Greater Baltimore and Krieger Schechter Day School (KSDS). As a member of the KSDS Board she has served as the Chairs for Development and Governance. She is also an active volunteer for the Bloom Syndrome Association.   Lorne graduated from Temple University's School of Dentistry in 2001 as a Doctor of Dental Medicine. He previously attended Penn State, where he received a B.S. in Microbiology. For the last 21 years Lorne has been practicing general dentistry in Frederick, Maryland. In addition to practicing chair side, Lorne is the clinical director for 14 offices in Maryland. Outside of work, Lorne is in his third year of serving on the Board of the Bloom Syndrome Association where he chairs the Community Engagement committee. When he has free time, you can find Lorne trying new restaurants throughout Maryland and Delaware, exercising to work off those meals, and relaxing in Rehoboth Beach, Delaware.    Understanding Bloom Syndrome:   Bloom Syndrome is a rare genetic disorder characterized by a range of symptoms, including very short stature, light sensitivity, immune system deficiency, and a heightened risk of developing cancer at a young age. Individuals with Bloom Syndrome may also experience chronic respiratory illnesses, recurrent ear infections, and diabetes. Notably, males may face infertility, while women undergo early menopause and reduced fertility. With only a few hundred documented cases worldwide, Bloom Syndrome presents significant challenges for affected individuals and their families.   Interview Highlights:   Diagnostic Journey: Melanie and Lorne share insights into their son Brady's diagnostic odyssey, highlighting the challenges they faced in identifying Bloom Syndrome. From noticing early signs to navigating various medical appointments, they provide a firsthand account of their journey.   Family Planning and Genetic Counseling: The discussion delves into the impact of Brady's diagnosis on family planning decisions and the role of genetic counseling in providing support and guidance to the Yasbin family.   Managing Cancer Risk: Given the heightened risk of cancer associated with Bloom Syndrome, Melanie and Lorne discuss strategies for managing Brady's cancer risk and navigating cancer screenings and treatments.   Parenting and Family Dynamics: The conversation also touches on the practical aspects of parenting a child with Bloom Syndrome, including balancing Brady's needs with those of his older brother Noah and making medical appointments a positive experience for Brady.   Advocacy and Advice: Melanie and Lorne conclude by offering valuable advice to listeners and sharing their advocacy efforts for individuals with rare diseases like Bloom Syndrome.   We extend our heartfelt thanks to Melanie and Lorne for their candid insights into Bloom Syndrome and their unwavering advocacy for rare disease awareness. Their story serves as an inspiration to families facing similar challenges, and we wish them all the best in their journey.   Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In our last episode (#32), we had the privilege of speaking with Matthew Goldstein, CEO of JScreen, about genetic screening. In this conversation, we are honored to welcome his wife, Myra Sack, a writer, coach, and activist, to share her family's journey and honor the memory of their daughter, Havi, who passed away from Tay-Sachs disease in 2021.   Myra Sack is not only a dedicated parent but also a passionate advocate and writer. Her memoir, Fifty-Seven Fridays, is a poignant reflection on navigating life's most painful realities and finding beauty amidst grief. With a background in social impact and bereavement care, Myra's insights offer invaluable guidance for those facing medical challenges and grief.   Exploring Tay-Sachs Disease: - Myra shares insights into Tay-Sachs disease, educating our audience about its impact and challenges faced by individuals with the condition.   Preconception Screening Journey: - We delve into Myra and Matthew's journey with genetic testing and preconception screening, highlighting the importance of awareness and informed decision-making.   Coping with Diagnosis: - Myra reflects on coping with the shock and emotional impact of Havi's Tay-Sachs diagnosis, offering personal insights into their family's journey.    Fifty-Seven Fridays: - Myra discusses her memoir, Fifty-Seven Fridays, sharing its purpose and the therapeutic process of writing it amidst grief.   Learning to Coexist with Grief: - Myra shares wisdom on learning to coexist with grief, offering invaluable advice and insights for those facing medical challenges and loss.   Role of Support Networks: - We explore the role of organizations like the Courageous Parents Network and E-Motion, Inc., in providing support and resources for grieving individuals and families.   Parting Words of Wisdom: - Myra offers heartfelt advice and parting words of wisdom for our listeners, encouraging resilience and embracing community amidst challenges.   As we conclude our conversation with Myra Sack, we are reminded of the resilience of the human spirit and the power of sharing our stories to inspire and uplift others. Join us in honoring Havi's memory and embracing the journey of learning to coexist with grief.   Check out Myra's organization, Emotion, which is for grieving individuals to find community and cope with loss. And of course, her upcoming book, Fifty-Seven Fridays, which consists of memoirs from Matt and Myra, Havi's diagnosis, and how they celebrated her life.    Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

A physician-scientist father shares his heartbreaking story of the death of his daughter who was diagnosed with Tay-Sachs disease and how it motivated him to become the CEO of JScreen to prevent this experience in other families.  Matt Goldstein is a physician-scientist and entrepreneur. He has founded companies, built R&D teams, and led strategy and execution of both pre-clinical research and clinical development. Prior to joining JScreen and Emory University, Matt was a Partner at Related Sciences, a venture creation firm. As an entrepreneur at Third Rock Ventures he spent a decade building and operating Third Rock portfolio companies. He was responsible for building and leading the Immunology program at Tango Therapeutics, the centerpiece of Tango's strategic multi-billion dollar partnership with Gilead Sciences, Inc. He also served as the development head for Tango's lead program which entered the clinic in 1H 2022. Matt was a co-founder of Neon Therapeutics leading Translational Medicine and Early Development through completion of their first clinical study and initial public offering. He is a graduate of Swarthmore College and the MD/PhD program at Stanford University, where he pioneered novel cancer immunotherapies in the lab of Ron Levy, MD. He completed his clinical training in Internal Medicine at Harvard Medical School, Brigham & Women's Hospital. He lives in Boston with his wife, Myra, their second daughter Kaia and son Ezra. His oldest daughter Havi died on January 20th, 2021 of Tay-Sachs disease. A quick update that during the episode Matthew mentioned there are 4,000 genetic counselors in the USA, this number has now surpassed 5,000.   During the episode, Matthew recommends the book Bearing the Unbearable: Love, Loss, and the Heartbreaking Path of Grief by Dr. Joanne Cacciatore.    Check out his wife, Myra's organization, Emotion, which is for grieving individuals to find community and cope with loss.    In our next episode we will chat with Myra about Emotion and her upcoming book, Fifty-Seven Fridays, which consists of memoirs from Matt and Myra, Havi's diagnosis, and how they celebrated her life.    Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In this episode we are learning about blood transfusion therapy with a focus on the patient experience.    Our Executive Producer, Kira Dineen, joins as a co-host since she has a scientific background.    Lori Harada is a registered nurse who also serves as Senior Manager, Technical Excellence Team, for Terumo Blood and Cell Technologies. This is a team of 12 specialists who provide education and support for both the Spectra Optia® Apheresis System and the Trima Accel® Automated Blood Collection System.   Lori is no stranger to this industry. She brings with her almost 40 years of nursing experience, 35 of those years in apheresis practice. With her vast knowledge of blood transfusion and related products in the field, Lori provides unique perspective, insight, and understanding to bear for customers, and ultimately patients, every day. Lori is a leader in the industry and has moderated several webinars for American Society for Apheresis (ASFA) and the American Society of Pediatric Hematology/Oncology (ASPHO).   During her career, Lori has held positions ranging from apheresis operations and clinical training to sales and marketing. But her true love is education. Seeing a new operator catch the passion of treating patients with apheresis is what brings her the most joy, along with instilling knowledge in her specialists so they share that passion of improving a patient's life. In her free time, Lori enjoys living in Colorado, where she skis, hikes, and plays golf.   Carly Newton is a Registered Nurse at Terumo Blood and Cell Technologies. She has over 15 years of experience helping Healthcare Professionals that treat Sickle Cell Disease patients with Red Blood Cell Exchange all over the globe. Specializing in apheresis treatments, Carly uses that experience to educate Health Care Professionals on the most effective ways to prescribe Red Blood Cell Exchange.   By focusing on differentiating the different types of transfusion therapies available to Sickle Cell Disease patients, Carly has been able to put the Registered Nurse degree she earned at The University of South Australia to good use. Carly may spend her days at the Terumo Lakewood campus, but it's the patients and helping them live their best lives that gets her up in the morning. When she's not at Terumo, Carly loves spending time in the great outdoors and enjoying everything the Colorado Rockies have to offer.   If you want to learn more check out Terumo's website here.    Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.    See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In honor of Rare Disease Month, we're thrilled to welcome a special guest to our podcast episode: Wes Michael, President, and Founder of Rare Patient Voice. With over two decades of experience in rare and orphan diseases, Wes has dedicated his career to amplifying the voices of patients and caregivers in medical research and development. Join us as we delve into the story behind Rare Patient Voice, its mission, and the invaluable role it plays in shaping the future of healthcare.   Before we dive into our conversation with Wes, let's take a moment to acknowledge Rare Disease Month. Did you know that Rare Disease Day falls on the last day of February? It was chosen because February, with its rarest day, the 29th, represents the perfect opportunity to raise awareness and celebrate the strength and resilience of individuals affected by rare diseases.   Now, let's turn our attention to our esteemed guest, Wes Michael. With his wealth of experience in market research and healthcare, Wes founded Rare Patient Voice in 1998 with a vision to empower patients and caregivers to make their voices heard in the medical research and development process.   Insights into Rare Patient Voice: - Wes shares the inspiring story behind the creation of Rare Patient Voice and what inspired him to establish this organization. - We learn how Rare Patient Voice connects patients and caregivers with opportunities to voice their opinions on medical products and services, ensuring their voices are heard and valued.   Empowering Patient Voices: - Wes discusses how Rare Patient Voice ensures diversity and inclusivity in the patient populations it represents in research studies and surveys. - Insights into the role of patient advocacy groups in amplifying patient voices and collaborating with Rare Patient Voice to drive impactful change.   Shaping the Future of Healthcare: - Wes shares his perspectives on the future of rare disease research, patient engagement, and the invaluable role patient insights play in shaping healthcare advancements.   Inspiring Action: - As we wrap up our conversation, Wes leaves our listeners with a powerful message about the importance of elevating the voices of individuals affected by rare diseases and the profound impact they have on shaping the future of healthcare.   Rare Disease Month serves as a poignant reminder of the strength, resilience, and unwavering spirit of individuals in the rare disease community. We extend our heartfelt thanks to Wes Michael for sharing his insights and dedication to empowering patient voices through Rare Patient Voice. Together, let's continue to raise awareness, drive change, and advocate for a brighter future for all those affected by rare diseases.   Be sure to check out Rare Patient Voices on their website.    Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In this riveting episode of 'It Happened to Me', join co-hosts Cathy Gildenhorn and Beth Glassman as they sit with Dr. Esen Akpek, a leader in corneal and stem cell transplantation. Listen as Dr. Akpek sheds light on emerging research around a groundbreaking synthetic corneal device. This conversation is a beacon of hope for those at high risk of failure from traditional donor corneal transplants and for anyone interested in advancements in ophthalmology. Discover the intricacies of corneal transplantation, the common eye disorders that affect corneal transparency, and the importance of regular eye check-ups and vaccines in preventing such conditions. Expect a deep dive into the complexities of developing an artificial cornea, the multiple challenges faced, and the potential life-changing impact it holds for individuals around the world. Led by Dr. Akpek's expertise and research, explore the evolving landscape of corneal transplants, the struggle with rejection rates, and the prospect of an acrylic glass cornea as a more sustainable alternative. Despite the inevitable hurdles in the journey, the promising success rate paints an optimistic future for vision impairment globally. Be sure to check out Dr. Akpek's previous interview on Episode #28 where she shared her expertise on dry eye, what it is and what we can do to relieve it.   Dr. Esen Akpek (she/her) is the Bendann Family Professor of Ophthalmology at The Wilmer Eye Institute, The Johns Hopkins University Medical School. Her area of expertise is in the fields of ocular surface diseases and corneal transplantation. Her current research centers around developing a synthetic corneal device for patients who are at high risk of failure with donor corneal transplantation. She combines the rare characteristics of superior surgical skill and patient empathy. You can learn more about Dr. Akpek on her Johns Hopkins' listing here.  We would like to disclose, our co-host Beth Glassman is a patient of Dr. Akpek.   You can also listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.  “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

We are joined by Dr. Esen Akpek to discuss dry eye, what it is and what we can do to relieve it.     Dr. Esen Akpek (she/her) is the Bendann Family Professor of Ophthalmology at The Wilmer Eye Institute, The Johns Hopkins University Medical School. Her area of expertise is in the fields of ocular surface diseases and corneal transplantation. Her current research centers around developing a synthetic corneal device for patients who are at high risk of failure with donor corneal transplantation. She combines the rare characteristics of superior surgical skill and patient empathy. You can learn more about Dr. Akpek on her Johns Hopkins' listing here.    We would like to disclose, our co-host Beth Glassman is a patient of Dr. Akpek.     Dr. Esen Akpek joins us again on “It Happened To Me” in our next episode where we will chat about corneal transplantation. In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.   

Two experts from the Prevention of Blindness Society: Sean Curry and Caren Forsten, join as our guests for our first episode of 2024!    Sean Curry, MPH, serves as program director for the Prevention of Blindness Society (POB) of Metropolitan Washington. In this role, he oversees the POB's comprehensive suite of low vision programs, the See For Yourself screening and education program, and program measurement and evaluation activities. Sean also provides guidance for POB's public health information initiatives.    Previously, Sean worked in public health promotion with Penn Medicine Lancaster General Health. Sean earned his Bachelor of Science in biology and health science from Lebanon Valley College, and his Master of Public Health from The George Washington University.   Caren Forsten, CEO, is POB's fifth chief executive in its more than 85-year history, Caren brings extensive leadership experience in both the private and nonprofit sectors. Most recently, Caren served as director of marketing with Verizon. She has a demonstrated history of success in improving client service experiences through relationship building, meaningful communications, and high-performing, cross-functional teams. This experience is invaluable to her role at POB, leading efforts to increase partnerships and community awareness of POBs work.   Caren earned her Bachelor of Science from the University of Tennessee, Knoxville, and Master of Business Administration from the University of Maryland, College Park. She is actively involved in her community through nonprofit organizations such as The George Washington University Hospital and the Junior League of Washington.     Access the resources mentioned during the interview here:  POB Website Monthly Newsletter  glaucomadc.org Tour Of The Eye Webinars via YouTube  Prevention of Blindness Society of Metropolitan Washington Podcast   Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.   “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

We are thrilled to have Dr. Fumihiko Urano on “It Happened To Me” as he is our co-host Cathy's lead doctor, for her variant of the rare disease, Wolfram Syndrome.    Fumihiko “Fumi” Urano, MD, Ph.D., is a Physician and Medical Researcher specializing in Wolfram syndrome, characterized by juvenile-onset diabetes, vision loss, and neurodegeneration. Dr. Urano is a Professor of Medicine and Pathology & Immunology, an attending physician at Endocrinology Genetics Clinic, and currently holds Samuel E. Schechter Endowed Professorship in Medicine at Washington University Medical Center, St. Louis, USA. Dr. Urano is a driving force in the study of Wolfram syndrome and Related Disorders, including WFS1-related disorders/Wolfram-like disorders. As the Director of the Wolfram Syndrome and Related Disorders Clinic and Study at Washington University Medical Center, Dr. Urano has been leading the clinical, translational, and interventional studies of Wolfram syndrome and Related disorders. Dr. Urano's collaboration with colleagues at the medical center and around the world has allowed him to develop cutting-edge treatments for this disease, including gene therapy and regenerative therapy.    Learn more on their Wolfram syndrome website, wolframsyndrome.wustl.edu. If you want to reach out directly you can contact the Research Nurse Coordinator Stacy Hurst, RN, CDE by calling 314-747-3294 or emailing shurst@wustl.edu.    During the episode Dr. Urano mentioned two episodes of “It Happened To Me”: during this episode. The first was our interview with Dr. Gladstone in Episode 5. He also gave a shoutout to our conversation with Stephanie Snow Gebel (Snow Foundation) in Episode 9.    Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

Pancreatic cancer occurs when a cell in the pancreas is damaged, causing the malignant or cancer cell to form in the tissue of the pancreas.  The pancreas is a gland about 6 inches long and is shaped like thin pear lying on its side.  The pancreas lies between the stomach and the spine.     The risk of developing pancreatic cancer increases with age, with about ⅔ of patients being diagnosed at age 65 or older.  Slightly more men than women are affected.     Cigarette smoking is one of the biggest risk factors. Other risk factors include:  Being overweight Personal history of diabetes and Family history of pancreatic cancer or pancreatitis   Like most cancers, early detection is critical. Survival rates are impacted by tumor size and whether the cancer has spread to other organs.   In this episode we are joined by Leslie Waldman, who has a personal diagnosis of pancreatic cancer, which she has lived with for 10 years. Leslie Waldman is director of Consumer and Physician Engagement at Johns Hopkins Medicine. During the last four decades, he has served Johns Hopkins in many capacities including director of strategic marketing, director of competitive strategy for Johns Hopkins Medicine and as director of public affairs for the Johns Hopkins University School of Public Health.   Throughout her career, she has blended strategy planning and marketing, public affairs and consumer health education to affect change and motivate consumers towards healthier living. Resulting programs have included community-based screening programs for Tay-Sachs disease and lead poisoning; the award-winning health portfolio, A Woman's Journey; and strategic marketing programs for women's health, many clinical programs and recruitment of volunteers for clinical trials The Association of American Medical Colleges has honored her work for the digital program, COVID -19: One Year Later; re branding Johns Hopkin Medicine, marketing the Johns Hopkins Breast Center, advertising during open enrollment, the publication of Estrogen Replacement Therapy: The Johns Hopkins Guide to Making an Informed Decision; and marketing for the Johns Hopkins Asthma and Allergy Center.   Ms. Waldman has a masters in science in health education from the Johns Hopkins University Bloomberg School of Public Health and a BA from the Newhouse School of Communications and the College of Liberal Arts at Syracuse university.   Check out “A Woman's Journey: Healthy Insights That Matter” on Apple Podcast here. There is also an archive here. We also encourage you to explore the resources offered by PanCan and Lust Garden. You can also reference the NCCN guidelines for pancreatic cancer here.    Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

We are honored to have Dr. Andrew Carey as a guest on this episode of on It Happened To Me. As a disclosure, Dr. Carey is our co-host Cathy Gildenhorn's Doctor who diagnosed her rare disease, Wolfram Syndrome.    Andrew R. Carey, MD (he/him) is an Assistant Professor of Ophthalmology in the division of Neuro-Ophthalmology at the Wilmer Eye Institute. He specializes in neuro-ophthalmic disorders such as optic neuritis, uveitis related papillitis, ischemic & hereditary optic neuropathies as well as diseases of the retina, including age-related macular degeneration, diabetic retinopathy, toxic retinopathies and inherited disorders of the retina such as retinitis pigmentosa.   Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. Steve Holsonback is our media engineer and co-producer. DNA Today's Kira Dineen is our marketing lead and co-producer. Ashlyn Enokian is our graphic designer.    See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.   

Dr. Colby Kash is featured on this episode of “It Happened To Me”. Dr. Kash is the author of The Autoimmune Plague: How to Regain Sovereignty Over Your Body and Life.   He is an author who has pivoted out of clinical practice and is dedicated to improving health through modern technologies and evolutionary biology. Dr. Kash is also a lecturer on wellness and a co-founder of biotechnology companies and an investment group.  Dr. Kash has experienced his own set of Medical Challenges. Crippling digestive issues that advanced to Crohn's disease, as well as psoriasis and inflammatory arthritis. Determined to find the root causes, he developed a blueprint to combat the wide range of psychological, emotional, physical and environmental stress factors that contribute to autoimmune diseases. In the end, this blueprint gave HIM his health back. He hopes to share his approach with others suffering the debilitating effects of autoimmune disease.  Dr. Kash has a Doctor of Chiropractic, a Masters in Applied Clinical Nutrition and several certifications reflecting his passion within health, wellness and longevity.  Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.  It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

Carly Flumer was diagnosed with stage I papillary thyroid cancer at the age of 27 and again at 31. While being diagnosed with cancer at such a young age was a surprise, as it would be to anyone, she found strength, support, and inspiration in sharing her cancer journey on social media. As a result of her health outcome, she looks to advocate for other cancer patients through education, research, and health literacy. She received her Master's degree from Boston University in Health Communication and Bachelor's from George Mason University in Health Administration and Policy.    Resources from the episode… Thyca Elephants and Tea Cactus Cancer Society National Cancer Institute GRYT Health American Cancer Society   Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.   

We are releasing this episode in honor of Wolfram Syndrome Global Awareness Day which is celebrated on October 1st. The Wolfram Syndrome community worldwide is working to increase awareness and ultimately find a cure for Wolfram Syndrome. To learn more about Wolfram you can also listen to Episodes 3, 5, 9, and 18 of It Happened To Me.   Pat Gibilisco is Patient Advocacy Liaison for the Snow Foundation for Wolfram Syndrome research. Pat is Co-Founder of the first Wolfram Syndrome Website and Family Support Group, which launched in 1998 when her 12-year-old daughter, Lauren, was first diagnosed with Wolfram Syndrome. In 2021, Lauren passed in her mid-30s.    In the 90s, Pat contacted Dr. Timothy Barrett, the only known doctor affiliated with this disease, and with Dr. Barrett's help she was introduced to other Wolfram families. In 2000, Pat contacted the late Dr. Alan Permutt who discovered the WFS1, Wolfram gene. Pat was instrumental in getting Dr. Permutt to Washington University in St Louis. Dr. Alan Permutt conducted the first Wolfram syndrome research clinic, which included Lauren and six other patients in 2010.   Pat is the administrator for the Wolfram Syndrome family private Facebook page. She is passionate about educating and supporting patients, families and caregivers affected by Wolfram syndrome. She offers valuable insight, and resources and connects others who live with this rare disease. She is committed to growing the patient advocacy community, which currently includes over 370 families. Pat is and Lauren was, a strong advocate for Wolfram Syndrome and have spoken at several Wolfram Syndrome fundraisers to help raise money for research and ultimately a cure.    In this episode we discuss Wolfram Syndrome, a rare recessive genetic condition. Wolfram Syndrome is difficult to diagnose but symptoms include diabetes, optic nerve atrophy, vision loss, deafness, loss of taste and smell, and urinary and bladder dysfunction. Our co-host, Cathy Gildenhorn,  was diagnosed with a mild, adult onset variant of this neuro degenerative syndrome.    Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.   

In this episode of It Happened To Me we are learning about the genetic conditions Familial Dysautonomia with three lovely guests: Lanie Etkind, Rita Taryan, and Keshi Taryan-Kigel.    Lanie Etkind was appointed Executive Director of the Familial Dysautonomia Foundation in 2017. Lanie's professional background has included fundraising roles in both healthcare and the performing arts. Lanie recently completed a Certificate program in NonProfit Leadership in cooperation with Northwestern University.   Rita Taryan and her daughter, Keshi Taryan-Kigel, also join the show. Keshi is a Familial Dysautonomia (or FD) patient in her early 30s and she and her mom will provide a personal perspective about living with and managing the symptoms of FD.    Learn more on Familial Dysautonomia Foundation's website.    Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our logo graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

Corinne Merlino was born with Pierre Robin Syndrome, a rare congenital birth defect that affects craniofacial development. Navigating life as a patient from a young age sparked her passion for science, medicine, and advocacy, and ultimately inspired her to pursue a career in genetic counseling.   Corinne currently works as a clinical research coordinator for -The Palliative and Advanced Illness Research- or (PAIR) Center- at The University of Pennsylvania. There she supports multiple studies focused on improving the effectiveness and efficiency of specialty palliative care services for seriously ill patients.    With our Executive Producer, Kira Dineen, Corinne also serves as Communications Lead for the DNA Today Podcast for over 3 years. Kira is also joining us today as a guest host for this conversation!    In 2020, Corinne received her B.S. in Biology and Healthcare Ethics from Saint Joseph's University. Corinne is currently a graduate student in genetic counseling at the University of Pennsylvania.   During the episode we mentioned Philly Phaces and the book and film Wonder.    Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In this episode we continue our conversation with Tamra Blum. Tamara was on the last episode (Episode #17) of It Happened To Me where we discussed mental health. Tamara shared her expertise as a licensed clinical social worker to help listeners develop a mental health toolkit and answered several FAQs about therapy and more.    Tamara is a Licensed Clinical Social Worker (LCSW) in St. Louis, Missouri with a  MSW from the Brown School at Washington University. She has worked with grieving families, on college campuses, and as a graduate and post-graduate level supervisor. Tamara has also served as a consultant to the National Center for Deaf-Blindness and  has been providing psychotherapy and mental healthcare in her private practice serving teens, adults, couples and families since 2012.   In this episode we are discussing Tamara's role as the parent of a child with an ultra rare subtype of Wolfram Syndrome. Tamara is the proud single mom of 6 children. Her 5 surviving children include 26-year-old Andrew who has the Hattersley-Urano subtype of Wolfram Syndrome. She is an ally and an advocate at work and home and has taught her children to be the same.    Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our logo graphic designer.    See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

In this episode our guest is Tamara Blum. Tamara is a Licensed Clinical Social Worker (LCSW) in St. Louis, Missouri with a  MSW from the Brown School at Washington University. She has worked with grieving families, on college campuses, and as a graduate and post-graduate level supervisor. Tamara has also served as a consultant to the National Center for Deaf-Blindness and  has been providing psychotherapy and mental healthcare in her private practice serving teens, adults, couples, and families since 2012.   Tamara is the proud single mom of 6 children. Her 5 surviving children includes 26-year-old Andrew who has the very rare Hattersley-Urano subtype of Wolfram Syndrome. She is an ally and an advocate at work and home and has taught her children to be the same.    Tamara will appear as a guest on our next episode as well. In this episode we discuss how Tamara utilizes her training as a Licensed Clinical Social Worker (LCSW), to help listeners develop a mental health toolkit.    During the episode Tamara recommended Psychology Today as a resource to find a mental health provider. She also mentioned people in the United States can call 988 which is a free 24/7 hotline for people experiencing a mental health emergency or need help in the moment.    The second half of our conversation with Tamara will be featured on our next episode of It Happened To Me which will be released on August 21st. We will focus on Tamara's role as the parent of a child with a nano rare subtype of Wolfram Syndrome. In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our logo graphic designer.    See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

At the age of 29, Brooke received a devastating diagnosis. After four years of confusing symptoms in her leg, Brooke Eby was diagnosed with ALS in March 2022. She hopes to spread awareness of amyotrophic lateral sclerosis (ALS) to as many people as possible and laugh along the way. Brooke has appeared as a guest on the Today Show, interviewed by Savannah Guthrie. You can also read the essay she wrote for the Today Show.   Brooke, thank you so much for sharing your story with us. Listeners, you can follow along with her journey across all social media platforms at @LimpBroozkit (TikTok, Instagram, etc.).   Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.    See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.   

We have fabulous guests this episode sharing their expertise about a skin condition called Bullous Pemphigoid: patient advocate Dr. Naomi Bishop and argenx's Associate Director of Global Patient Advocacy Shelley Gerson.    Naomi Bishop, M.D. (she/her) is a physician-medical writer/editor with a rich background in the arts. Following a career in dance and graphic design, she pivoted to medicine, where she channeled her fascination with human physiology and commitment to helping others achieve optimal health. With a young family in tow, Dr. Bishop completed the required preparatory courses and attended medical school, where she graduated as valedictorian of her class. She completed her post-graduate training at New York-Presbyterian Hospital, Columbia-Cornell, and has cared for children in Pediatric Intensive Care Units (PICUs) in several top New York hospitals. Her passion for understanding systems failures led her to seek formal training in Quality Improvement and she served as director of PICU Quality and Performance Improvement for six years. She was recognized by the Solutions for Patient Safety group for her poster summarizing the impact of adding Human Factors Engineering principles to central line-associated bloodstream infection (CLABSI) prevention strategies. After witnessing the tragic death of an infant with Alveolar Capillary Dysplasia, Dr. Bishop was awarded a large CDC grant for her project designed to increase awareness of this rare, fatal lung disease. Her research produced what is still the most cited State of the Art Review on the subject. In November 2019, Dr. Bishop pivoted to a career in freelance medical writing and editing, disciplines that combine her insatiable appetite for perusing the medical literature with a dedication to improving communication between healthcare providers, their peers, and the public. Dr. Bishop remains deeply committed to patient-centered, empathic, and ethical care. As a proponent of Design Thinking and Human-Centered Healthcare Design, she strives to leverage her insights and experience to create content that is compelling and instructive.  In November 2021, Dr. Bishop was diagnosed with Bullous Pemphigoid, an event that rocked her world and changed her understanding of what it means to be a patient with a rare, chronic disease. Her search for the latest treatments led her to the IPPF, an organization to which she owes boundless gratitude for supporting her journey through treatment and recovery. As of April 2023, her BP is in remission. Dr. Bishop currently shares an empty nest in New York City with her five sun-loving plants. She is a voracious reader and fitness enthusiast and savors her close relationships with her adult son and daughter. She would insist that the Atlantic, New Yorker, New England Journal of Medicine, and a beeline to the IPPF be within reach if she found herself stranded on a desert island.  Our second guest is Shelley Gerson. Shelley is the Associate Director of Global Patient Advocacy at argenx. Shelley leads the advocacy efforts for alternative treatments for people living with autoimmune dermatological and hematological diseases. Previously, she worked as a patient advocate at Sanofi and Biogen. Prior to working in the biotech industry,  Shelley was a licensed counselor and a private practice therapist. Shelley lives with a severe form of Hemophilia, called Hemophilia A, so she also has a personal perspective of being a patient advocate herself.    During the episode both Dr. Bishop and Shelley recommended the International Pemphigus and Pemphigoid Foundation and the Facebook group, Bullous Pemphigoid Warriors.   Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.  See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

We have two incredible guests this episode who share their expertise about an autoimmune condition multifocal motor neuropathy: patient advocate Jennifer Burgand and argenx's Chief Scientific Officer Dr. Peter Ulrichts. Jennifer Burgand, originally from WI moved to Atlanta, GA after college and was an elementary school teacher and assistant principal UNTIL the Big Apple called her name and she is now a successful Channel Sales Manager. Jennifer has been a fitness enthusiast since she was a young child. She was in gymnastics and dance from the age of 5 and as she got older she enjoyed working out at the gym, salsa dancing, spin classes, snowboarding, hiking, wakeboarding and I forgot to mention her love of high heel shoes. Her journey of “It happened to me” started after she moved to NYC in 2011 and began tripping on her toes and her ankle would suddenly give out during a spin class or while wearing high heels. She was eventually diagnosed with Multifocal Motor Neuropathy. You can join Jennifer's support group, MMN Warrior, on Facebook. Peter Ulrichts obtained a PhD in immunology from the university of Ghent (Belgium). After a short post-doc period, he joined argenx in 2010 as research scientist where he was involved in the development of various therapeutic antibodies for the treatment of cancer and autoimmune diseases. In 2013, he headed the development of argenx' FcRn antagonist Efgartigimod until the first-in-human study after which he transitioned to become the lead scientist of the efgartigimod program. Currently, he holds the position of Chief Scientific Officer and oversees the development of all clinical and pre-clinical compounds within argenx's pipeline. For more information head over to Know Rare's website and argenx's website. Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiri

Kimberly Callinan provides a toolkit for medical challenges throughout life. Kim Callinan is the President and CEO of Compassion & Choices where she has had a leadership role in realizing patient directed end of life care for the past seven years. Kim is frequently invited to speak at conferences, testify before state legislatures, conduct policy briefings and serve on committees as an expert on end-of-life care options. In this episode our conversation will not focus on End of Life care, it will focus on helping listeners become empowered consumers. Consumers who, when faced with a serious diagnosis or medical challenge, learn to ask the right questions and consider treatment options. Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

Be sure to listen to part 1 in Episode #11! Parents Bonnie and Will Alms share their son's diagnostic odyssey with Bardet Biedl Syndrome. Everett's condition is a rare genetic disorder. People may suffer symptoms that include retinal degeneration, obesity, reduced kidney function, extra digits of the hands or feet, as well as many other manifestations. You can learn more about Everett in this article. Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. Steve Holsonback is our media engineer and co-producer. DNA Today's Kira Dineen is our marketing lead and co-producer. Ashlyn Enokian is our graphic designer. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

Parents Bonnie and Will Alms share their son's diagnostic odyssey with Bardet Biedl Syndrome. Everett's condition is a rare genetic disorder. People may suffer symptoms that include retinal degeneration, obesity, reduced kidney function, extra digits of the hands or feet, as well as many other manifestations. You can learn more about Everett in this article. Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. Steve Holsonback is our media engineer and co-producer. DNA Today's Kira Dineen is our marketing lead and co-producer. Ashlyn Enokian is our graphic designer. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.