Rare Genomics Patient Story: How iHope funding for genome sequencing helped Amelia's diagnosis

Amelia RG.JPG

"Amelia just was diagnosed through iHope's funding of her genome sequencing - DYRK1A Syndrome. Thank you!!!!

There’s no treatment for DYRK1A syndrome and will likely be life long, though we don’t know how mild or severe it will affect her. It explains her delays, trouble feeding early on, hypothyroid, constipation, lower height and weight... and is a very rare condition. The doctors at the children’s hospital didn't know of any other child they currently have with the same diagnosis as Amelia.

So... I still expect challenges ahead, but knowing is half the battle. Her neurologist is working to see what he can do for her and making sure she gets the testing and medical help she needs. We wouldn't have been able to afford this test or receive answers as to why we were seeing Amelia's developmental delays if it weren't for the genome sequencing sponsored by your organization. Now, I have a better understanding of what to expect in Amelia's future as well as the ability to join specific DYRK1A support groups online, where I can relate with and get advice from other families affected."

  • Amelia's Mother