CoRDS Cast

On this episode of CoRDS Cast you will hear from Andrea Johnson and Carissa Carman who are not only the co-founders of the NUS1 Foundation, but also amazing parents to their sons who are diagnosed with NUS1. We also get the pleasure of speaking with Richard Steet who is the Director of Research at the Greenwood Genetic Center and Heather Flanagan-Steet who is the Associate Director of Research at the Greenwood Genetic Center. Richard and Heather are both heavily involved with NUS1 research and with the help of Andrea and Carissa, come together to make an impact with the NUS1 community. For more information, please visit: https://www.nus1foundation.org/ Enjoy!

Tune in as Polly sits down with Kearstyn Shaw and Dr. David Picketts with BFLS Incorporated. Kearstyn's son was diagnosed with BFLS in 2021. Kearstyn has been a strong advocate for her son and her community since the diagnosis. Dr. David Picketts is a researcher at the Ottawa Hospital Research Institute. His research is focused on understanding the role of epigenetic regulators in brain development and neurodevelopmental disorders (NDDs). Dr. Picketts works closely with Kearstyn to help find a cure and treatments for BFLS. Enjoy!

On this episode of CoRDS Cast, Polly sits down with Brianna Dose with the KBG Syndrome Association. Brianna is not only a strong advocate for her community but she also has a daughter with this rare condition. While being a pediactric nurse in neurology, she was put in the exact postition she needed to be to help her daughter and fight to find answers. To learn more about the KBG syndrome association, please visit: kbgsyndrome.org

On today's episode, Alyssa and Polly sit down with Theresa who is a part of the Coffin Lowry Syndrome Foundation. Theresa's son was diagnosed with Coffin Lowry Syndrome at the age of four. Theresa discusses the long journey ahead to finding a diagnosis for her son. Theresa has been a major part in growing their community with over 800 members and devoted her life to finding a cure. If you would like to learn more about the Coffin Lowry Syndrome Association, please visit: www.clsf.info Enjoy!

Join us on a special podcast with Price Wooldridge as he discusses his journey navigating Lambert Eaton Syndrome (LEMS). Price is not only a strong advocate for the LEMS Family Association, but is a patient himself. Learn about his amazing journey to finding answers and living with LEMS. To learn more about LEMS please visit: lemsfamily.org Enjoy!

On this episode of CoRDS Cast, Alyssa sits down with Becky from HODA (Hypertrophic Olivary Degeneration Association). Becky is an amazing advocate in the rare disease space as her sister is diagnosed with HOD. Tune in to listen to her story. To learn more information on HOD, please visit: hodassoc.org

On this episode of CoRDS Cast, Ben and Polly sit down to discuss the recent updates to the CoRDS registry platform and our plans for future improvements. Enjoy!

On this exciting episode of CoRDS Cast, Alyssa sits down with Sophia Zilber from the Cure Mito Foundation and Allison Peck from Cure VCP Inc. Sophia and Allison are both very strong advocates for their foundation and have done an amazing job recruiting to their registries. Tune in to learn how they have built their registries along with different strategies to make it successful. Enjoy! Contact information: Sophia Zilber: email: sophia@curemito.org Website: https://www.curemito.org/ Allison Peck: email: allison@curevcp.org Website: https://www.curevcp.org/

On this episode of CoRDS Cast, Alyssa sits down with Terry Thompson, Jameson Parker, Ed Meyertholen, and Chris Grunseich with the Kennedy's Disease Association. Kennedy's Disease is a defect in the ‘X' Chromosome, and it makes testosterone almost a poison to the body. The disease is Spinal Bulbar Muscular Atrophy; more commonly known as Kennedy's Disease. Please tune in to listen to each heart felt story, and why they are each involved in rare disease research today. If you would like more information on Kennedy's Disease or have any questions, please visit: https://www.kennedysdisease.org/ Enjoy!

On this month's episode of CoRDS Cast, Alyssa sits down with Kasey Woleben who is one of the founders of the Cure Mito Foundation, and Sophia Zilber who is the board member, patient registry director. Kasey and her family have started several non-profits to save their son, Will, and other children facing mitochondrial diseases like SURF1 Leigh syndrome. Sophia has over 15 years of experience in pharmaceutical industry and is volunteering her expertise to help the rare disease community, in memory of her daughter, Miriam. In mitochondrial disorders, the mitochondria's ability to convert food and oxygen into energy is impaired because of a genetic mutation in the DNA. There are over 100 different mutations that can cause this condition. You will not want to miss the incredible story of these two families fighting to find a cure. To learn more about the Cure Mito Foundation, please visit: https://www.curemito.org/

On this episode of CoRDS Cast, Ben sits down with Jacquelyn Stockdale who is the mother of Isla. Isla is an amazing child living with CLN3 Batten Disease. Isla first started having issues with her eyesight and was later on seen by an ophthalmologist. Later down the road, Isla was diagnosed with CLN3 Batten Disease. Due to Isla being diagnosis early, her family was able to really focus on strengthening every day. You will want to take time to listen to this amazing heartfelt podcast of Jacquelyn and her daughter Isla's journey. To learn more about Isla's story please visit: www.islasfaith.com Enjoy!

On this episode of CoRDS cast, Polly gets the pleasure of sitting down with Doug Strott. Doug is the founder/president of the Scheuermann's Disease Fund and also has this condition. Scheuermann's Disease is a spinal (skeletal) disease that typically presents itself in children during adolescence. It is often noted by an accentuated curvature, or "hunched back" and if left untreated, may lead to significant health complications later in life. Doug will discuss his condition along with how important it is to advocate for rare conditions like Schueremann's Disease. To learn more about Schueremann's Disease please visit https://www.sdfund1.org. Enjoy!

On this episode of CoRDS Cast, Alyssa sits down with Kathy Young who is a strong advocate for Myhre Syndrome and also has a daughter diagnosed with this condition. Kathy's daughter was diagnosed with Myhre Syndrome seven years ago and at this time there was not an organization or group created for this condition. Being less than 200 diagnosed with this condition, Kathy started a Facebook group where she could connect with people diagnosed with Myhre Syndrome. Creating a Facebook group would later on help set up a Myhre clinic at Mass General Hospital. Enjoy!

In our November edition of CoRDS Cast, Alyssa sits down with Kristie DeMarco who is the president and founder of the Global DARE Foundation. In 2019 Kristie was diagnosed with Refsum through genetic testing. In two years she went from an iron man triathlete to walking in constant pain along with losing peripheral vision and sense of smell. Refsum is a genetic disorder that affects the metabolism of Phytanic Acid which is found in foods like red meat, dairy, and fish. Symptoms of this condition include retinitis pigmentosa, loss of smell, hearing loss, neuropathy, ataxia, and itchy skin. Early diagnosis is critical to get the specific diet for Refsum to slow down symptoms.

We are starting off September with a very inspiring story of two fathers who have children with Cystinosis. On this episode of CoRDS cast, Alyssa sits down with Clay Emerson and Stephen Jenkins. Clay is a father to 6 year old Brooke who was diagnosed with Cystinosis at just 16 months. Stephen is a father of two sons diagnosed with Cystinosis, Sam and Lars. Cystinosis is a rare genetic metabolic disease that causes the amino acid, cysteine, to accumulate within the body's cells. The build-up can cause damage to the tissues and organs including the kidney, eyes, muscles, liver and brain. Tune in to hear about the journey that Clay and Stephen took to become strong advocates for their children and for the community.

On this episode of CoRS Cast, Polly sits down with Robin Henry who is a strong advocate for DDX3x and also has a daughter, Lanie, with this condition. DDX3x Is caused by a spontaneous mutation at conception. This condition Primarily affects girls due to its location on the X-chromosome, though there are affected boys. Robin continues to be a strong advocate for her daughter's condition and started a Facebook group called Gene DDX3x. For more information regarding this condition you can visit: https://ddx3x.org/

On this episode of CoRDS Cast, Alyssa sits down with Breanna, who is a strong advocate for RERE Syndrome. Breanna's daughter, Loghan is one of 30 diagnosed in the entire world with this condition. If you would like to follow Loghan and Breanna's story, you can visit her Facebook page, Learning with Lolo. If your child has been diagnosed with RERE syndrome or you are looking for support, please visit RERE Syndrome on Facebook.

On this episode of CoRDS Cast, Alyssa sits down with Haley Oyler and Lindsey Noonan to discuss the rare conditions their sons have, SETBP1. Haley is the president and founder for the SETBP1 Society which brings awareness to this condition and unites families and researchers. While working with the SETBP1 Society, Haley also has a son with this condition and was diagnosed about 5 years ago with little information out there. Her hard work has paved the way for families to find a diagnosis at a young age. Lindsay has a son with SETBP1 and was diagnosed at 7 months. Due to being diagnoses at such a young age, they were able to start early working on some of the issues that go along with this condition. Because of people like Haley, Lindsey’s son was one of the youngest children diagnosed with SETBP1. This year on June 12th, 2021 the SETBP1 Society will participate in the Virtual Million Dollar Bike Ride. This annual festival brings together rare disease families, friends and supporters to raise funds for rare disease research and to spread awareness of rare disease. For more information please visit: https://www.setbp1.org/mdbr/ If you would like more information on SETBP1, you can visit: www.setbp1.org. Thank you for listening!

On this month’s episode of CoRDS Cast, Alyssa sits down with Caroline Yiu. Caroline’s son Alex, was diagnosed with a very rare neurodegenerative disorder called NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures.) This condition is caused by a spontaneous mutation in the IRF2BPL gene. Caroline’s family went on a 10 year journey to find a diagnosis for her son Alex. Caroline is also an advocate for families with children fighting chronic complex medical issues without a diagnosis but also those with rare diseases. For more information on resourses about the challenges of being undaignosed or diagnosed with a rare disorder you can visit: https://www.cureundx.com/. To hear more about Alex’s journey, please visit: https://www.alexsodyssey.com/

In today’s episode Alyssa speaks with Karen Dolins who is part of the Maple Syrup Urine Disease Family Support Group (MSUD FSG). Karen is a parent of an individual who has a diagnosis of maple syrup urine disease. Being a registered dietician, she was aware of this condition prior to her child receiving the diagnosis. We will listen to learn how Karen has had such success with her registry along with learning more about this condition.

In this episode of CoRDS Cast, Alyssa interviews David Longman from the Tango2 Research Foundation, and Dr. Michael Sacher, who is a professor in the biology department at Concordia University. TANGO2 itself is a protein coding gene on chromosome 22 (22q11.21). TANGO2 has only recently been identified as a gene that contributes to human disease so there is not yet a deep understanding of the specifics around the underlying pathology and biochemical pathways affected. David is a loving father of a 3 year old who has Tango2. David works closely with researchers such as Dr. Sacher, and does great work with his group to raise money for research and to raise awareness for his son’s condition. To learn more please visit: https://tango2research.org/

In this episode of CoRDS Cast, Polly sits down with Tabitha Frank, who is the founder of the Endosalpingiosis Foundation, Inc. After Tabitha was told that she had endometriosis and would never be able to have a child, she got pregnant with her son. Complications started to arise after her pregnancy and she would soon be diagnosed with endosalpingiosis. Tabitha will not only discuss her diagnosis on this episode, but will also talk about the mental strain it puts on women who have this condition. Her mission is to spread awareness and advance research for endosalpingiosis. Enjoy!

On this episode of CoRDS Cast, Alyssa sits down with Kristen Groseclose and Dr. Carlos Prada with the Smith-Kingsmore Syndrome Foundation. Smith-Kingsmore Syndrome is a rare condition which is caused by mutations in the MTOR gene (mechanistic target of rapamycin), found at chromosome location 1p36. Kristen is the president of the Smith-Kingsmore Syndrome Foundation and she also has a son who had gone 15 years without receiving a diagnosis. Dr. Prada is a clinical scientist with board certifications in pediatrics, genetics, and biochemical genetics. Due to the advancement of genetic testing and efforts from medical professionals like Dr. Prada, children are being diagnosed at a much younger age. The Groseclose’s family have a hope to build a structure of a foundation that will impact families to come. Enjoy!

On this episode of CoRDS Cast, Alyssa sits down with the Chloe Barnes Advisory Council on Rare Diseases. We will be speaking with Erica Barnes who is the co-founder of the organization, Karl Nelson who is a Physician Assistant and also is diagnosed with a rare condition called ectodermal dysplasia, and Dr. Kris Ann Schultz who is a pediatric oncologist at Children’s Minnesota. The Chloe Barnes Advisory Council on Rare Diseases envisions a world where every Minnesota citizen living with a rare disease has access to a timely diagnosis, comprehensive care, and an effective treatment. Their mission is to provide advice on research, diagnosis, treatment, and education related to rare diseases. This will be a very informative episode you will not want to miss! If you have any questions or would like more information on the Chloe Barnes Advisory Council on Rare Diseases, please visit: https://cbacraredisease.org/

On this episode of CoRDS Cast, Alyssa and Polly sit down with Deborah Fowler who is the President and Founder of Softbones, Inc. Hypophosphatasia or HPP is a metabolic bone condition that most often affects the development of bones and teeth. The signs and symptoms vary widely, with mild cases causing only dental abnormalities while the more severe types have life-threatening consequences. The hallmark of the disorder is bones that become soft or weakened, causing skeletal deformities, fractures, premature tooth loss and pain. Deborah’s son was diagnosed with Hypophosphatasia at 18 months old and she is a strong advocate for this rare condition. To learn more information, visit: https://www.softbones.org/ We hope you enjoy!

On this episode of CoRDS Cast Alyssa and Polly sat down with Richard Holl who is not only the founder for the TGA project but a patient as well. TGA stands for Transient Global Amnesia which is a sudden temporary episode of memory loss. Richard will dive deep into his condition and describe what life is like living with TGA.

Today Alyssa sits down with Taylor Kane. Taylor founded Remember the Girls after learning that more than 50% of female ALD carriers go on to develop physical symptoms--sometimes severe ones, and that many carriers of the other x-linked recessive disorders are similarly affected. Besides running her own advocacy group Taylor is also a carrier of the x-linked disease Adrenoleukodystrophy (ALD) and became an advocate for ALD families at a very young age, helping to raise over $200,000 for ALD research. This is a podcast you will not want to miss. Enjoy!

We hear about gene therapies and DNA technologies, but what goes on behind the scenes? What is it like to work in the industry? On this episode of CoRDS Cast, Ben sat down with Dr. James Brown who is Aldevron's Vice President of Corporate Development. Aldevron started in 1998 and is a manufacturing company implementing strategies for expanding DNA, mRNA, antibody, and protein products and production services. Among other things, Aldevron produces many of the inputs that go into gene therapies. Join us as we take a dive into development services and custom manufacturing of nucleic acids, proteins and antibodies that provide companies with essential components for research, clinical and commercial applications. Enjoy!

On this podcast Alyssa sits down with Josh and Amanda Couch from the White Sutton Syndrome Foundation along with Dr. Reid Sutton. Amanda is the Co-Founder and President of the White Sutton Syndrome Foundation and Josh is both the Creative Director and Secretary of the White Sutton Syndrome Foundation. They are parents of three, the youngest of which has been diagnosed with White Sutton Syndrome. Dr. Reid Sutton is a clinical geneticist and clinical biochemical geneticist at Baylor College of Medicine & Texas Children’s Hospital in Houston. In his role as a clinical researcher with the Baylor-Johns Hopkins Center for Mendelian Genomics, he worked with graduate student Janson White on a number of projects, including the description of the spectrum of developmental and health issues in individuals with variants in the POGZ gene, that the Online Mendelian Inheritance in Man (OMIM) has designated “White-Sutton Syndrome”

In this episode, Alyssa and Polly sat down with Carol Roberts from the PBCers Organization. You'll hear Carol share information on her organization and her journey as a rare disease patient diagnosed with Primary Biliary Cholangitis (PBC) which leads to cirrhosis of the liver. Carol will lead us though her experience as an advocacy leader and a patient. We hope you enjoy!

In this episode, Alyssa speaks with Stacey Reason and Andrew Wakelin with the IamGSD organization. Stacey and Andrew are both diagnosed with one of the muscle GSDs that we cover in this episode, McArdle disease. You'll hear about their advocacy efforts through IamGSD and learn about the diesease from their perspectives as patients. Enjoy!

In this episode Alyssa sat down with Christal Delagrammatikas with the Malan Syndrome Foundation, and Dr. Richard Gronostajski who is the Director of the genetics, genomics & Bioinformatics Graduate Program at the University of Buffalo. Christal connected with Dr. Gronostajski which got him involved with Malan syndrome and further research. Here, you'll learn more about Malan syndrome and the efforts behind it as we dive deeper into the pod cast.

In this episode, Alyssa and Polly spoke with Nathan Peck, the founder of Cure VCP Disease, Inc. and with Dr. Chris Weihl, a professor of Neurology at Washington University School of Medicine in St. Louis. VCP disease is a complex degenerative disorder that involves multiple aspects ranging from muscle fatigue to dementia. In this discussion, you'll learn about current research, the role and impacts patients have on therapy development, and get to hear from two of the men fighting to raise awareness. Enjoy!

In this episode, Alyssa and Polly interviewed Wendy Giebink and Mallory Kloucek from the South Dakota chapter of NAMI, the National Alliance on Mental Illness. While not often discussed, mental illness and rare disease may go hand in hand - especially in cases of depression and anxiety. Here, Wendy and Mallory discuss the free programming offered by NAMI to provide education and counseling to those living with mental illness. Hope comes through talking about struggles, and out of hope comes healing. We hope you enjoy!

In this episdode, we met with co-founders, Seth Rotberg and Kristina Wolfe, to discuss their newly founded organization called Our Odyssey. The foundation serves the needs of young adults living with rare and/or chronic conditions. Together, Seth and Kristina have a vision for meeting the overall needs of this niche community within the rare and chronic healthcare space. This is an information packed episode - enjoy! For more information on Our Odyssey, visit them at www.ourodyssey.org.

In this joint podcast episode, Ben visited with Megan Meyer and Matty Manley, both moms to children living with a congenital muscular dystrophy (CMD). You may know Megan and Matty from their podcast, "Two Rare Mama Bears," and we were so excited when they asked us to do a joint episode! You'll hear discussion about summer weather in the midwest, the flow of events during Rare Disease Week on Capitol Hill, the mission of Cure CMD, and a bit about the CoRDS Registry too. We hope you enjoy this episode - and be sure to subscribe to Matty and Megan's podcast at curecmd.org/podcast.

In this second part of Episode 14, Ben met once again with Dr. Sotirios Keros. On this interview, they were joined by Breteni Morgan-Berg, the mother of Kamiyah, a patient living with a mutation in the KCNMA1 gene. You'll hear a powerful story of a family's life on the diagnostic odyssey, finding a diagnosis, and Breteni's relentless effort to do everything she can for her daughter.

In part one of this two-part episode, Ben and Alyssa interviewed Dr. Sotirios Keros. He is a passionate pediatric neurologist with a background in neuroscience research. Through his clinical experience, Dr. Keros has become involved in research into a family of disorders related to mutations in the KCNMA1 gene. In this episode, you'll learn about the gene and related disorders, current research in the space, and a unique perspective on patient advocacy from a very passionate physician scientist. Enjoy!

In this episode, Austin and Ben spent some time with Jaime Husher from Sanford Health's Health Information Management Department. Sanford HIM is responsible for maintaining and distributing each patient's medical record. Jaime provides great insight into working with multiple healthcare systems to retrieve records, making effective requests for information, and ensuring that you have everything you need to take to a new clinic appointment. This episode is packed with great information on a very important topic! Enjoy!

In this episode, Austin and Alyssa speak with Roberta Smith, the President of the Alagille Syndrome Alliance, and Dr. Kamesh Surendran of Sanford Research. Alagille Syndrome is a devastating rare genetic disorder that affects multiple organ systems. Roberta is both a parent of a child affected by Alagille Syndrome, and a tireless advocate who brings a refreshing perspective on advocacy for rare disorders. Dr. Surendran leads a team of researchers at Sanford who study developmental biology. One of the main projects of his laboratory is investigating the genetics behind Alagille Syndrome, and they seek to learn more about the kidney phenotype of the disorder. There is a ton of information in this installment of CoRDS Cast - enjoy!

In this episode, Austin and Ben interviewed Dr. Eric Sid at the NIH's National Center for Advancing Translational Sciences (NCATS) in the Office of Rare Disease Research. His team has been busy working on a toolkit that rare disease patients or patient groups can use as a guide while navigating their course in developing a registry for their communities. This is a valuable resource for advocacy groups of any size and is worth checking out! The toolkit went live on Rare Disease Day 2019 and can be found here: https://registries.ncats.nih.gov. Thanks for listening, and enjoy this episode of CoRDS Cast!

In this episode, Austin and Alyssa interviewed Bonnie Royster, the Executive Director of the CdLS Foundation, and Dr. Rich Haaland, who serves as the Chair of the CdLS Foundation Research Committee. You'll learn about the condition, some of the research activities currently going on, and hear from Bonnie and Rich on what the CdLS Foundation does to serve families affected by the syndrome. Enjoy!

Austin interviews the President & Founder of All Things Kabuki, Rene King, to learn more about the condition and what the group does to raise awareness and advocate for families living with Kabuki Syndrome. Joining them in the interview is Olaf Bodamer, MD PhD FACMG FAAP. Dr. Bodamer is the Director of the Roya Kabuki Program at Boston Children's Hospital and leads a team of dedicated scientists and professionals to nurture a better understanding of the disease and develop treatments to better the lives of Kabuki patients.

In this episode, Austin interviews Sharon Rose Nissley and Emily Lemiska from Klippel-Feil Syndrome Freedom about life with Klippel-Feil Syndrome and becoming patient advocates. The group is also joined by Dr. Philip Giampietro, a medical geneticist and researcher, who has worked closely with both Sharon and Emily in their efforts to draw more of a research focus to Klippel-Feil Syndrome. Thanks again for listening - enjoy!

Happy New Year from the CoRDS team! In this episode we interviewed Diane Powell, the CEO and board chair of the Hypersomnia Foundation. We also caught up with Dr. Lynn Marie Trotti, a sleep specialist and hypersomnia researcher. Together, they're working to uncover the cause of the disorder and improve the lives of everyone living with idiopathic hypersomnia. Enjoy!

In this episode, Alyssa and Austin interview Sue Hagen from long time CoRDS partner, the National Ataxia Foundation. You'll also hear from Lauren Moore, an ataxia researcher at the University of Michigan. Enjoy!

In this episode of CoRDS Cast we interview John Morris from the International WAGR Syndrome Association and learn about the great work his group is doing to raise money for research and to raise awareness for his daughter's disease. Later, we had the chance to speak with Dr. Kevin Francis about the rare disease research being done in his laboratory and to hear about his WAGR Syndrome studies.

In this episode, we interview Dan Brendtro, a passionate father who began raising money by running marathons for his daughter, who has been diagnosed with Friedreich's ataxia. His path to launching The Finish Line Fund led him to a researcher studying FA right in his home town, Dr. Peter Vitiello. We were fortunate to sit down with both men and ask them about the project and how the experience has shaped their hopes for the future. Enjoy!

In this episode of CoRDS Cast, we sit down with Jennifer VanHoutan from Noah's Hope to hear about their work in Batten Disease advocacy and sponsored research. You'll also hear from Sanford's own Dr. Jill Weimer about her Batten Disease research program and about how animals play a role in finding answers and developing treatments. Enjoy!

In episode 2, we sit down with a handful of attendees at the 2018 Professional Patient Advocates in Life Sciences (PPALS) certificate training course held earlier in the summer. In part 2 of this episode, you'll hear interviews with Seth Rotberg from the Huntington Disease Youth Organization, Olivia Montano from the PROS Foundation, and Rob Long & Brett Brackett from Uplifting Athletes.

In episode 2, we sit down with a handful of attendees at the 2018 Professional Patient Advocates in Life Sciences (PPALS) certificate training course held earlier in the summer. In part 1 of this episode, we interview Erin Hill from the Muscular Dystrophy Association and two of the PPALS event organizers, Jean Campbell and David La Greca.