))
GRIN2B: An Odyssey from Diagnosis to Evacuation
Manage episode 420733953 series 3051496
A tartalmat a Grey Genetics biztosítja. Az összes podcast-tartalmat, beleértve az epizódokat, grafikákat és podcast-leírásokat, közvetlenül a Grey Genetics vagy a podcast platform partnere tölti fel és biztosítja. Ha úgy gondolja, hogy valaki az Ön engedélye nélkül használja fel a szerzői joggal védett művét, kövesse az itt leírt folyamatot https://hu.player.fm/legal.
Nadia Billous is a mother of two young sons, including 9-year-old Andryusha who was diagnosed with GRIN2B-related neurodevelopmental disorder. Nadia and her family are Ukrainian and lived in Kyiv at the time of Andryusha’s birth. At first, he was a typical, healthy baby but began to have some alarming symptoms around 3 months of age which led to a 7 year odyssey to identify this rare diagnosis. Andryusha was receiving therapies and interventions to help him gain strength and prove his quality of life which were abruptly impacted by the war in Ukraine. In this episode, Nadia talks about her life as a parent of a child with GRIN2B, the remarkable support her family received from the GRIN2B Foundation and rare disease community.
Nadia was interviewed by guest host Kristina Inman, a second year genetic counseling student. An interpreter assisted with this interview.
Related Resources
Donate to help support Nadezheda & her family
Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page.
Interested in digging deeper into the professional issues raised in the podcast? Consider joining the Patient Stories Club!
Do you want to support Patient Stories? You can make a donation online!
Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Looking for a place to collect your family history and share with relatives? Check out the FamGenix app.
Grey Genetics is no longer active on social media. To receive occasional email updates, sign up for our mailing list.
94 epizódok
Megosztás
