Podcasts about digeorge syndrome

In this episode, we sit down with Aleta, a 31-year-old mom from Opelika, Alabama, as she shares her powerful story of raising her daughter. Diagnosed at birth with DiGeorge Syndrome and later with autism, her daughters journey has been filled with both challenges and triumphs. Aleta opens up about the complexities of navigating life with a child who has dual diagnoses, from understanding the rare condition of DiGeorge Syndrome (22q11.2 deletion syndrome) to learning how autism uniquely impacts her daughter. She candidly discusses the struggles of differentiating behaviors between the two diagnoses. This episode is a testament to resilience, unconditional love, and the beauty of embracing life's unique journey. Whether you're a parent, caregiver, or advocate, this episode will resonate with anyone who has faced adversity and found strength through love and determination. Follow Aleta on Instagram: https://www.instagram.com/bshari11/ Connect with us on Instagram: https://www.instagram.com/theabmpodcast/ Don't Forget to Subscribe! If you enjoyed this episode, please subscribe, leave a review, and share it with someone who would be inspired by Aleta' s story.

On this episode Lara and Vyanka talk to Dr Kathleen Sullivan from the Children's Hospital of Philadelphia all about DiGeorge Syndrome and 22q11 Deletion Syndrome. This is ImmunoTea: Your Immunology Podcast, presented by Dr Lara Dungan and Dr Vyanka Redenbaugh. This is the show where we tell you all about the most exciting research going on in the world of immunology. So grab a cup of tea, sit down and relax and we'll fill you in. Contact us at ImmunoTeaPodcast@gmail.com or @ImmunoTea on twitter. Hosted on Acast. See acast.com/privacy for more information.

“If you have a question, ask it. You are the parent, you need to know” -  Jessica Siddi-Sewart  How can medical parents use their experiences to promote action and advocacy? As a child life specialist, I know that there is not one "normal" or "best" reaction for a parent when their child receives a medical diagnosis. Today's guest, Jessica Siddi-Sewart and she helps us reflect on the different stages parents go through when facing a medical diagnosis for their child. She is also a mother of three, a paralegal, and a business owner. I had the pleasure of meeting Jessica during our time at the American Academy of Pediatrics Conference this past October and was instantly drawn to her products and knew I wanted her to join me on the Child Life On Call podcast. Her company Puffaluffs Inc. was inspired by a personal experience with one of her sons.  After giving birth at 28 weeks, a NICU stay, and a long and emotional journey to receiving a diagnosis, Jessica still found a way to make meaning and give back. For Jessica's son, it took 12 years and hundreds of doctor appointments to receive a concrete diagnosis: DiGeorge Syndrome. She shares her journey and learned the importance of finding support and resources from families walking through similar challenges.  “It teaches you to pivot. It teaches you, you know, to learn different things and be okay. It is what it is and you will be okay” The resources mentioned in this episode are: Puffaluffs Inc. Diagnosis resources for families with DiGeorge include: https://www.nationwidechildrens.org/conditions/22q-deletion-syndrome https://22q.org/ https://www.maxappeal.org.uk/ About Katie Taylor, CCLS and Child Life On Call: Katie Taylor is the co-founder and CEO of Child Life On Call, a digital platform revolutionizing pediatric healthcare by putting parents at the center of the medical journey. With over 13 years of experience as a certified child life specialist, Katie has made significant contributions to the field of child life and the families she's served with over a decade of working at the bedside. She is an accomplished author, engaging child life and entrepreneurship speaker, and the Child Life On Call Podcast host. Katie's work emphasizes the vital role of child life services in supporting caregivers and enhancing children's medical journeys. Learn 6 Positions to Help Kids Feel Comfortable and Safe During Procedures Instagram | LinkedIn | Amazon   

Melissa Clode shares how her 8-year-old son Charlie, is not defined by his heart. He has DiGeorge Syndrome which has caused a heart defect, developmental delays and seizures. Through 3 open heart surgeries, over 130 hospital admissions in 8 years, 3 strokes and countless seizures, Australian blood & organ donors have kept Charlie alive.  The most important part about Charlie's heart is how much he uses it to love life! Whether he is showering his siblings with love, spending time with his service dog Elton, playing trains with Nanny and Poppy, stealing the hearts of doctors and nurses with his magical smile or snuggling with courageous parents Melissa and Daniel - Charlie has a habit of reminding all those around him how magical it is to be alive.  On this special episode of for International Day for People with Disability you will get a window into the life of the Clode family and how disability doesn't define them, its just part of who they are!

This week's episode of Parent Tell is a powerful one and discusses one mom's experience with finding out her daughter would be born with some sort of developmental delay and the fight she fights every single day to do what she needs to do for her daughter. Angela's daughter was born with DiGeorge Syndrome, a disorder caused when a small part of chromosome 22 is missing. This deletion results in the poor development of several body systems. Medical problems commonly associated with 22q11.2 deletion syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development with behavioral and emotional problems. The number and severity of symptoms associated with 22q11.2 deletion syndrome vary. However, almost everyone with this syndrome needs treatment from specialists in a variety of fields.Angela's story is powerful, as it showcases exactly what moms are willing to do, and what they go through, in order to be there for their children and give them what they need.Follow Parent Tell on InstagramSupport Parent Tell on PatreonSend Kaila an email with your parenting story at parenttellpod@gmail.com

The area of Delk, Powers Ferry, and Terrell Mill roads in Marietta, Georgia, is becoming known as "Little Brazil" due to its growing community of Brazilian restaurants, businesses, and residents. Over 50 people recently gathered to discuss how to turn the area into a county-recognized cultural destination, complete with a Little Brazil logo, signage, and a Brazilian Cultural Association. The community, which has grown rapidly since the 1990s, has become an integral part of the larger Marietta community, contributing to its vitality. Commissioner Jerica Richardson has allocated $50,000 to a capital fund for Little Brazil, and residents are excited to finally be recognized. Seven-year-old Dakota, who has DiGeorge Syndrome, was one of 13 children chosen for the 20th Bert's Big Adventure trip to Disney World, an all-expenses-paid trip for children with chronic illnesses and their families. Dakota's aunt nominated her for the trip, and she was selected this year. The trip offers the children the opportunity to bond and enjoy everything the parks have to offer without feeling left out among healthy children. Bert's Big Adventure was started by Bert Weiss, who was inspired by Kidd's Kids, a similar trip started by the late radio host Kidd Kraddick in the early 1990s. The Marietta Book Nook in Georgia was reported to be closing due to financial losses during the pandemic, but the store's loyal customers rallied and helped keep it open. Manager Alexa Dunford said the community's donations and support have been "life-affirming and faith-restoring," and the store will continue operating through the summer and hopefully beyond. The store's inventory reflects the community's interests, and programs are being planned to engage local writers, artists and musicians. The Marietta location has reduced its hours but is open for private browsing by appointment and is offering a 50% off sale on most items Hundreds of Kennesaw State University students and fans gathered in the Convocation Center to watch the Owls play in March Madness, the university's first Division I appearance. Cowbells were given to fans to increase the excitement as the crowd cheered the team on, with some fans even dancing during halftime. Although the game came down to the final seconds, the Owls ultimately lost to the Xavier Musketeers. Fans left the building disappointed but still proud of their team's performance. Debbie Ginocchio, Development Director at Sweetwater Mission in Austell, was named the 2023 Woman of the Year at LiveSafe Resources 38th annual Tribute to Achievement. The Marietta-based domestic violence shelter and organization honored 14 other outstanding women from throughout metro Atlanta before a crowd of more than 450 at the Renaissance Waverly Hotel in Cumberland. Ginocchio was selected by an independent committee who reviewed each nominee without names or specific identifying information. A total of 15 women representing the business, medical, education, government, and nonprofit sectors were selected to join the organization's Academy of Women Leaders, a group of more than 600 past honorees. The Georgia Food and Wine Festival will show case the best of Georgia.  Arthur Wilson, owner of Silica Burns Glass, demonstrated the art of glassblowing to a small crowd in Marietta. The process involves placing molten glass into a furnace and gathering it onto a pipe, before adding color and shaping it by blowing air into the pipe and rotating it. Wilson's company offers weekly classes on glassblowing, and he sells his creations on his website. 20-year-old Ben Dracup, who works with Wilson, is also Majoring in glassblowing at Georgia Southwestern State University. Dracup says that Georgia Southwestern State is the only college in the state to offer a degree in glass blowing. STORY 6:Rape Malik Antonio Rollins, a man from Austell, has been sentenced to 20 years in prison without parole for burglarizing two homes and molesting a young girl in one of them. He will also serve 20 years probation and register as a sex offender. Rollins pleaded guilty to two counts of burglary, one count of aggravated child molestation, and two counts of child molestation. The crimes occurred on February 12, 2021, when Rollins broke into two homes in South Cobb and molested a 12-year-old girl. The victim's mother spoke at Rollins' plea hearing and expressed the impact of the crime on her family.   And now, as we get closer to the start of the 2023 Masters, Times-Journal Incorporated sports editor John Bednarowski joins the show to take us on a tour of Augusta National presented by Ingles. #CobbCounty #Georgia #LocalNews      -            -            -            -            -            The Marietta Daily Journal Podcast is local news for Marietta, Kennesaw, Smyrna, and all of Cobb County.             Subscribe today, so you don't miss an episode! MDJOnline            Register Here for your essential digital news.            https://www.chattahoocheetech.edu/  https://cuofga.org/ https://www.esogrepair.com/ https://www.drakerealty.com/           Find additional episodes of the MDJ Podcast here.             This Podcast was produced and published for the Marietta Daily Journal and MDJ Online by BG Ad Group   For more information be sure to visit https://www.bgpodcastnetwork.com          See omnystudio.com/listener for privacy information.

Seven-year-old Dakota, an Acworth girl with a severe genetic disorder, recently took the trip of a lifetime to Disney World. Dakota was one of 13 children between ages 5 and 12 with chronic illnesses selected for the 20th Bert's Big Adventure trip, sponsored by Bert Weiss and his hit radio show “The Bert Show.” Dakota, who has DiGeorge Syndrome, a defect in chromosome 22 that can cause severe illness in some children, traveled with her family, the other 12 children and their families on the all-expenses-paid trip from Feb. 22-27. #CobbCounty #Georgia #LocalNews      -            -            -            -            -            The Marietta Daily Journal Podcast is local news for Marietta, Kennesaw, Smyrna, and all of Cobb County.             Subscribe today, so you don't miss an episode! MDJOnline            Register Here for your essential digital news.            https://www.chattahoocheetech.edu/  https://cuofga.org/ https://www.esogrepair.com/ https://www.drakerealty.com/           Find additional episodes of the MDJ Podcast here.             This Podcast was produced and published for the Marietta Daily Journal and MDJ Online by BG Ad Group   For more information be sure to visit https://www.bgpodcastnetwork.com          See omnystudio.com/listener for privacy information.

My guest today is Brittany Kelchen, who shares about her daughter, Saylor who was diagnosed with Tetralogy of Fallot, which is a heart defect as well as DiGeorge Syndrome, which is a chromosome disorder. Brittany shares about the health journey Saylor has experienced in her short 7 month of life. Brittany and her family are advocating for others who have this diagnosis and her perspective and mindset is incredibly inspirational! Be sure to check out the show notes for some links to learn more! https://22qfamilyfoundation.org/ https://rarediseases.org/rare-diseases/chromosome-22q11-2-deletion-syndrome/?fbclid=IwAR1EY0cd-k9_oA_eTPfJv0uUQ72YVL3ALF2_WSSPb75XoeD90-J-v8VWMW4 https://rarediseases.org/rare-diseases/tetralogy-of-fallot/?fbclid=IwAR02Zq2OMb5s_Xx30coCq2n7zk53Ykw5olxA7wuXqwI_eQXlrycMV8Phy3A If you are in the Dubuque County area, mark your calendars for Saturday, November 19th to attend a benefit, Keep Saylor Sailing Strong held in Worthington with doors opening at 4pm. Thank you for listening and be sure to check out my website www.chooseyourjourney.co to hear other episodes of inspiration!

Welcome to the podcast, this weeks episode is with guest Sarah Hoke. She is a mother to three girls, her middle daughter was born with a genetic disorder called Digeorge Syndrome.In Sarah's story, her daughter's prognosis actually improved as the dug deeper with the doctors and as time went on. Sarah recognizes that this isn't the norm and she uses this to fuel her optimism for their life.  She is also a  member of my special needs mom coaching group and has unique insight into just how valuable it was can and the connections she didn't know she needed. Connect with SarahIG: www.instagram.com/sarah_hokeConnect with Kara:IG: https://www.instagram.com/Kararyska/Website: https://www.kararyska.com/NEW Coaching Program: Schedule a ConsultWanna be on the show?Contact meFull Show NotesPathway to Peace: Schedule a Conversation Request to Join The Special Needs Mom Podcast Community

We talk with Ashley Brown, SLP about how to approach the infant with feeding difficulties, including common causes and workup, therapeutic options, and the importance of family counseling and education. --- EARN CME Reflect on how this Podcast applies to your day-to-day and earn AMA PRA Category 1 CMEs: https://earnc.me/tuJttz --- SHOW NOTES In this episode of BackTable ENT, Dr. Gopi Shah interviews Ashley Brown, a speech language pathologist (SLP) at Children's Health Hospital in Dallas, about the evaluation and management of the infant with dysphagia. An infant with dysphagia, or difficulty in swallowing, can present with many symptoms, but most commonly failure to thrive, refusing to feed, incomplete feeding, and aspiration. When primarily assessing these patients, a complete history must be taken. Standard questions cover the chief complaint, the birth history, observations of a typical feed routine, and parent concerns. Next, a holistic exam is conducted. Speech language pathologists will often observe an infant's posture, tone, trunk support, and range of motion of the mouth and tongue. If necessary, instrumental studies, like a flexible endoscopic evaluation of swallowing (FEES) or a videofluoroscopic swallow study, can be performed. A FEES visualizes the pharyngeal space and is recommended for breastfeeding babies, NPO babies, head and neck cancer babies. A videofluoroscopic swallow study visualizes the oral and esophageal space and gives a better picture of flow rate consistency. Infant dysphagia can result from many etiologies, but some of the most common roots are: abnormalities in oral structure (e.g. tongue tie). problems with tone (e.g. injury to the recurrent laryngeal nerve), syndromes (e.g. Trisomy 21, DiGeorge Syndrome), laryngeal cleft, and laryngomalacia. Furthermore, GERD and nasal obstruction (e.g. pyriform aperture stenosis, choanal atresia) can also cause dysphagia. Although some deformities can be surgically fixed, most infants with dysphagia will either improve with maturity or through feeding therapy sessions with speech language pathologists. In these sessions, SLPs work with infants to train their sensory cues and motor skills through exercises such as oral motor stretches, sour/cold stimulation, facial taping, lip rounding, and neuromuscular stimulation. It is just as important to provide family counseling and parent training as it is to train the infant patients during these sessions.

In this episode Ben chats with Dr. Val Saini of Brock University. In the first half, Val shares his work translational research specifically in the area of problem behaviour relapse. In the second half we talk about how behaviour analysts can engage in antiracist work through the frame of metacontingencies. Lastly, Ben and Val talk about his work with previous guest, Louis Busch, on behaviour interventions for DiGeorge Syndrome. Correction:  During this episode Ben refers to an article by Rocco Catrone (who will be an upcoming guest). The first author of the article is Dr. Natalia Baires and Ben discusses this article thoroughly with Dr. Baires in episode 26.   Continuing Education Units - This episode counts as 1.5 BACB Learning CEUs: https://cbiconsultants.com/shop   Show Notes: The Behaviour Speak Podcast - Episode 11: https://www.behaviourspeak.com/e/episode-11-the-treatment-of-life-threatening-pica-with-louis-busch-bst-abs-hc-med-bcba     The Behaviour Speak Podcast - Episode 13: https://www.behaviourspeak.com/e/episode-13-behaviour-analysis-and-psychotropic-medication-with-alison-cox-phd-bcba-d   The Behaviour Speak Podcast - Episode 26: https://www.behaviourspeak.com/e/episode-26-smashing-the-patriarchy-a-conversation-about-sexism-and-privilege-in-behaviour-analysis-with-dr-natalia-baires-phd-bcba-d   George Brown College: https://www.georgebrown.ca/programs/autism-and-behavioural-science-program-postgraduate-c405 Wayne Fisher: https://www.abainternational.org/constituents/bios/waynefisher.aspx   Hank Roane: https://www.abainternational.org/constituents/bios/henryroane.aspx   DiGeorge Syndrome: https://www.nhs.uk/conditions/digeorge-syndrome/#:~:text=DiGeorge%20syndrome%20is%20a%20condition,without%20realising%20they%20have%20it       Suggested Articles/Links from Dr. Valdeep Saini on Relapse: Resurgence: https://www.redalyc.org/pdf/593/59341195014.pdf  Renewal: https://doi.org/10.1002/jaba.400   Reinstatement: https://link.springer.com/article/10.1007/s00213-002-1224-x  General overview of all: https://doi.org/10.1037/bar0000119    Articles Referenced: Baires, N. A., Catrone, R., Mayer, B. K. (2021, May 12). On the importance of listening and intercultural communication for actions against racism. PsyArXiv. https://doi.org/10.31234/osf.io/7qa4z  Louis Busch, Valdeep Saini, Sidrah Karim & Roland Jones. (2021). Evaluation and maintenance of behavioral interventions for 22q11.2 deletion syndrome. Developmental Neurorehabilitation. https://doi.org/10.1080/17518423.2021.1960919  Saini, V. & Vance, H. (2020). Systemic racism and cultural selection: A preliminary analysis of metacontingencies. Behavior and Social Issues, 29, 52-63. https://doi.org/10.1007/s42822-020-00040-0  Saini, V., Sullivan, W. E., Baxter, E. L., DeRosa, N. M. & Roane, H. S. (2018). Renewal during functional communication training. Journal of Applied Behavior Analysis, 51, 603-619. https://doi.org/10.1002/jaba.471 

This episode covers T-cell disorders, such as DiGeorge syndrome, Wiskott-Aldrich syndrome, ataxic telangiectasia and acquired immunodeficiency syndrome.Written notes can be found at https://zerotofinals.com/paediatrics/immunology/tcelldisorders/ or in the immunology section of the Zero to Finals paediatrics book.The audio in the episode was expertly edited by Harry Watchman.

Summary:  DiGeorge syndrome is a genetic condition caused by the deletion of a chunk of genes on chromosome 22 (specifically the q11.2 region). The classic triad of DiGeorge syndrome is cardiac anomalies, underdeveloped thymus gland and hypocalcaemia (secondary to underdevelopment of the parathyroid glands). The phenotype of DiGeorge syndrome is related to abnormal development of the embryonic pharyngeal pouch system, which is responsible for the development of the thymus, parathyroid gland, some facial development including ear development, and some cardiac development. DiGeorge syndrome is classified as either partial or complete, with the distinction being that patients with complete DiGeorge syndrome have profound immune deficiency secondary to a complete absence of the thymus.    You don’t want to miss: A case Explaining the condition to families An overview of the pathophysiology Aetiology Presentation Investigations to consider Complications Treatment and monitoring considerations    Links and resources:   Follow us on Instagram @yourekiddingright.pod Facebook: https://www.facebook.com/yourekiddingrightpod-107273607638323/   Our email is yourekiddingrightpod@gmail.com   Make sure you hit SUBSCRIBE/FOLLOW so you don’t miss out on any pearls of wisdom and RATE if you can to help other people find us!   (This isn’t individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)

Episode 22 - Artistic Spectrum and #StuffLikeThat In this episode, Dan, Alex, and Villi Gunnarsson discuss the topics of Autism, Velocardiofacial Syndrome (aka DiGeorge Syndrome), Stand-Up Comedy, and more. Have a question or topic you want us to discuss in the podcast? Send it to us at info@mvhtshow.com Support the show: paypal.me/mvhtshow Sponsors: Geymsla Studio Facebook.com/GeymslaStudio The Secret Cellar thesecretcellar.is Facebook.com/SecretCellarRVK Instagram.com/secret_cellar_reykjavik Smari's Volcano Sauce smarisvolcanosauce.com Facebook.com/Smarisvolcanosauce Instagram.com/smarisvolcanosauce

On Being Immunocompromised The world was told in no uncertain words that if people weren't above 65 years old or immunocompromised, there was little risk of death if we contracted COVID-19. But what went through the minds of the people who did meet those criteria? This is the story of one person on being immunocompromised during COVID-19. How did family members and loved ones respond? How have we circled the most at risk in our own circles? Are we responding at all? These are the questions most circling my mind right now. And I want to offer my personal experience and commentary. COVID-19 is affecting everyone and it’s up to us to respond relationally—in a way that lets people know they aren’t alone, that we’re in this together. I could easily say we’re in unprecedented times. But I don’t want to say that even though it’s true. Something about it sounds overused and wrung out. As everyone has adopted it into their language, it has lost its emotion. When someone talks about COVID-19 and the uncertainty it has brought to everyone, it doesn’t shed light on the personal and emotional truths people are dealing with. It doesn’t paint a picture detailing the normal everyday doubts, fears, concerns, joys and triumphs of the effected—which is everyone. Relationally Responding to COVID-19 So what is COVID-19 doing? It’s changing our world. The world we knew before March 11, 2020, doesn’t exist anymore. For the first time in our lifetime, we have uninterrupted time to pay attention to things we’ve rarely paid attention to prior—and decide to work on things. As with any tragedy, COVID-19 has brought people together. Families started talking as a whole unit on a regular basis. Individuals decided to step out and be uncomfortable to take care of their friends. Relationships are becoming a bigger and bigger priority as coronavirus continues its trek. While it continues its destruction and causes fear, I've taken the opportunity during this period of intense physical isolation to sit down and talk to my sister. Back when coronavirus—or, the rona—was making its way to the United States, there still wasn’t much anyone really knew about the virus. You could argue there still isn’t much in the grand scheme of things. However, the world was told that the majority of the people most effected were older, had preexisting health conditions and/or are immunocompromised. And the majority of people probably pictured what one of those people looks like. Being immunocompromised can mean you have a well-known disease such as diabetes, or a lesser known disease such as DiGeorge Syndrome. When this news came out, the only guidelines being offered by the Centers for Disease Control and Prevention was to treat the rona as you would the normal flu and take care to make sure you washed your hands regularly. Even for the immunocompromised and the elderly, there wasn’t much they were told to do to protect themselves from contracting the virus—a virus the majority of doctors and scientists didn’t know much about or how to handle in the first place. “Being at Risk Looks Like Me” My sister is in the immunocompromised group. Diagnosed with Ulcerative Colitis in 2013, my sister Chelsea has gone through years of learning to understand her own disease. She's tried countless methods of treatment. And the journey kept going even while she dealt with flare ups. In most stories where disease is a character, the disease often wins. The uncertainty the disease causes can wheedle its way into a relationship and reek destruction. It can break relationships as each partner tries to figure a way to survive—relationally, emotionally, mentally, spiritually. But in my sister’s case, her disease has only brought her and her husband Joe closer together. Adding COVID-19 on top of it has forced her to take in what’s going on and evaluate it. She and Joe both have had to evaluate COVID-19 and figure a way to see this journey through to the...

Gina Richards shares her story of her son's diagnosis of DiGeorge Syndrome and how it caused her to turn to advocacy for other mothers walking through the same diagnosis. To Emerge is sponsored by Emerge Mothers Academy, a nonprofit providing support services for single mothers in the Twin Cities. --- Send in a voice message: https://anchor.fm/to-emerge/message

Baby Ammon was diagnosed with DiGeorge syndrome and numerous other abnormalities. His parents are grateful he is here despite the difficulties.

On today's episode I'm speaking with Susan Bassett and her experience as the mother of a child with a disability. Sue offers positive suggestions on how to manage living in a hospital setting. About Susan Bassett Lots of words can be used to describe Susan Bassett – determined, energetic, focused, dynamic – but none sum her up better than the moniker, “”. Susan has a passion and calling for uplifting and motivating people. Her inspiring talks help people face and overcome emotional blocks and rise above challenges, so that they can reach their peak potential. A sought-after speaker and positivity coach, Sue is known for her candid and empowering message; delivered with healthy doses of personal experience, humour and attitude. Drawing on her own personal experiences as a woman, college lecturer and the mother of a special needs child, Sue has learned how to combat negative energy, reframe perspective and view obstacles as opportunities, and now she's sharing her insights and positive wisdom with others. Sue is the proud mother of two children, Atticus and Treva. Treva was born with DiGeorge Syndrome, a life-threatening genetic condition that has presented numerous challenges for her and the entire Bassett family. Since starting her career as a motivational speaker, Sue has done over 30 keynote presentations for companies, organizations and schools; speaking to audiences ranging in size from 50 to 3000. She has also done numerous media interviews discussing her work as an educator, positivity coach and charity director. In addition to her work as a professional speaker, Sue lectures on the subject of Early Childhood Education at Mohawk College and Sheridan College in Ontario, Canada. Sue and Randy make their home in Hamilton, Ontario with their kids, 2 cats and a dog – a Bassett Hound, of course. Want more details? Raising Treva inspired Sue, along with husband Randy, to co-found Opening Hearts; a non-profit charitable organization that focuses on the needs and well-being of children with special needs and their families. You can learn more about   If you have questions, you can get in touch with Susan on or .

Evanna was born with DiGeorge syndrome. A 400-day hospital stay wasn't easy for her parents but it strengthened their marriage and love for their daughter.

Last month the U.S. Food and Drug Administration granted Enzyvant both Breakthrough Therapy Designation and the newly established Regenerative Medicine Advanced Therapy Designation for its investigational cell therapy to treat complete DiGeorge Syndrome, a rare and fatal disease. Enzyvant is the first company to win both designations and only the second to win the Regenerative Medicine Advanced Therapy Designation established through the 21st Century Cures Act. The designations provide for accelerated review pathways and special access to developmental guidance from the FDA. We spoke to Alvin Shih, CEO of Enzyvant and Louise Markert, the Duke University immunologist who has been pioneering the therapy, about Complete DiGeorge Syndrome, the innovative approach they are using to treat it, and the path forward for the therapy. As a matter of disclosure, Shih is co-chair of Global Genes Medical and Scientific Advisory Board.

After learning their son had some markers for a genetic condition in utero, Bijan and Zach were offered to abort one of their twin boys.  They declined the offer and also declined in utero testing. Jackson was diagnosed with 22q11.2 deletion or DiGeorge syndrome.  Three years later, their other son Walker was recently diagnosed with autism. Twins Boys Diagnosed With Two Different Disorders Complications result in abortion advice During her pregnancy, Bijan said, “I was having many complications.”  She explained that Jackson’s fluid was really high and that his umbilical cord wasn’t attached properly.  They were given two options; be put on bedrest and expect a very early delivery, or terminate baby B, Jackson, and continue the pregnancy with baby A. “We both declined immediately, and they were born at 31-weeks gestation.  40 weeks is full-term, 37 for twins.” Bijan said. They also made the decision to decline any in utero testing.   A lengthy hospital stay When the twins were born, Jackson weighed one pound 14 ounces.  He ended up staying in the hospital for 90 days. Bijan said, “He has an underactive thyroid, but they didn’t figure out his thyroid condition for a while.  He was very listless, wasn’t eating properly and wasn’t gaining weight..they kept saying they knew it was a genetic condition but they didn’t know which one.” They were visited by a couple of different geneticists who came by to try and figure out what Jackson had.  They ran a full-scale genetic test on him and were able to receive a diagnosis. DiGeorge syndrome When he was three-months-old, Jackson was diagnosed with 22q11.2 deletion or DiGeorge syndrome.  Meaning that he is missing a small part on his 22nd chromosome. The medical problems associated with this syndrome are: heart defects, poor immune system, cleft palate, difficulties in feeding and gaining weight, and delayed developmental milestones. Jackson was lucky and escaped any heart related conditions. However, he has had several hospital stays due to surgeries and tests that have been run. Reaction following diagnosis “I think for a lot of people, you can’t really believe it at first.  You just expect everything to go perfectly like every parent would. The first day was just denial, I guess..but as the days went on, I grew a little more confident with trust and faith in the whole situation, and I knew it was going to be okay.” Zach shared. Trying to stay positive and being a good support is something that Zach says has been challenging.  He said, “So you just want to be there for him, help him develop and try to be a good dad.” Bijan shared that for her, the challenges have come in watching him go through hard things as an infant.  She said, “In the beginning, it seemed like the cards were going to be stacked against him, and I think that was tough.” Finding happiness in his success Bijan shared that her biggest joy is seeing how far Jackson has come.  She shared, “He still isn’t the typical three year old, but our joys come from his successes and everything that he does do now..he does have such a great personality, and he’s such a great kid.  He’s happy 99.8% of the time, so he’s our whole family’s joy.” Something Zach has found joy in is seeing Jackson smile and hearing him giggle.  He said, “You don’t know what’s going to happen, you never know. Just seeing him smile and looking you in the eye the first time was the biggest joy..I think the biggest joy thus far is his personality and his sense of humor.  That has been greater than I could ever really dreamed of, so we both have a lot to look forward to.” Other son diagnosed with autism Walker, Jackson’s brother, was recently diagnosed with autism.  Upon finding out that diagnosis Zach said, “It was a long stretch of almost three years.  I wasn’t really surprised, I couldn’t really be surprised at that point. All I could really think was, ‘Here we go, let’s just do it.’  We are already there for the boys,