A Rare Collection – Keep Digging
ONCE UPON A GENE – EPISODE 187
A Rare Collection – Keep Digging
There’s power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.
EPISODE HIGHLIGHTS
Angela, Mom to Yiannis with IRF2BPL, a neurodegenerative disorder
When Yiannis was born on a Saturday evening in July 2020, we knew immediately that something wasn’t right. He was whisked away to the NICU and nobody could tell us what was happening. Yiannis was in the NICU for more than two weeks without answers. After 18 months, a neurologist started to piece the puzzle together. Through whole exome sequencing, we found Yiannis had two ultra rare fatal progressive neurodegenerative disorders, IRF2BPL and LSM1. We started a foundation, Yellow for Yiannis, to be a leading resource forIRF2BPL funding and for the support of other families that are enduring this disease.
Katie, Mom to Beau with KIF1A, a neurodegenerative disorder
On December 17th, 2021, just shy of a month after his second birthday, our son was diagnosed with KIF1A, a super rare genetic condition that affects about 400 people in the world. We had a healthy, happy pregnancy leading to a pretty uncomplicated birth. Beau met all of his milestones and he was a healthy baby. When discrepancies in his communication, social skills, gross motor and fine motor skills developed, Beau was diagnosed with KIF1A through genetic testing. I encourage any parents who don’t feel okay with a diagnosis to keep digging and keep pushing for the safety of your child.
Dana, Sister to Jason and Sean with BCAP31
After years of genetic testing, it was revealed that my brothers Jason, age 21, and Sean, age 18, were both missing six pairs of their x chromosome. There’s no cure for what my brothers have. They’re the oldest documented case and most families I’ve met since have received a diagnosis for their kids around 3 years old. It was at that age when my mom noticed that Jason wasn’t hitting his milestones.
Kelly, Mom to Emma with dopamine transporter deficiency syndrome (DTDS)
When my daughter was 2 months old, I started noticing she was missing milestones. I sought out a complex care pediatrician who started running tests and lab work. Emma received a cerebral palsy diagnosis, but I couldn’t accept this diagnosis and sought out other opinions. After a genetic panel on neurotransmitters a genetic counselor revealed the real diagnosis- dopamine transporter deficiency syndrome. Had we settled for the CP diagnosis, we wouldn’t have known that our daughter’s life expectancy was only late adolescence or that a gene therapy clinical trial will be available.
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