Family Fighting for Research for Son’s Rare Genetic Disorder
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The Doctors are joined by parents Sanam and Ben, whose 5-year-old son Eli has a rare genetic mutation, a De Novo Heterozygous on the IRF2BPL gene, which could destroy their son's life.
The genetic disease is so rare it does not even have a name yet. Sanam and Ben have been told by doctors their son will lose the ability to walk and talk and essentially become a prisoner in his own body. Unfortunately, there is very little research on Eli's genetic disease and other children with it have become fully debilitated by the age of 10. In order to possibly avoid this, the family has started a foundation, the Stand By Eli Foundation, to raise awareness and fund research.
Sanam and Ben share with The Doctors that Eli is doing "phenomenal" and they credit early intervention for his success. Neurologist Dr. Jane Tavyev Asher explains this genetic abnormality leads to delays in meeting milestones like walking and talking. She explains other children with this neurodegenerative condition usually lose abilities like walking and talking around the age of 7. Dr. Tavyev Asher explains that further genetic testing and possibly gene therapy in the future may help Eli.
Dad Ben explains that funding is key in their fight to save Eli and other kids with the rare genetic mutation, and The Doctors are pleased to share that TrialCard is donating 5,000 to The Stand by Eli Foundation in hopes that they can continue to help find a cure for this rare disorder.