A frightening arrival
We didn't know anything was wrong until the day James was born. He was born unable to breathe and was immediately intubated. We spent almost a month in the NICU at Children's Hospital of Orange County where we found out that James has bilateral vocal cord paralysis, hypotonia and many other challenges. Because of all of this, James received his tracheostomy and gastrostomy tube surgeries within the first few weeks of his life. We had every test ran, and yet the doctors still couldn't tell us what was causing all of this and we were discharged from the hospital.
An answer at last
Two weeks after being discharged, we received a call from our geneticist who let us know she had found our answer. James has an extremely rare genetic mutation of the CNTNAP1 gene.
James today
James is now 7 years old and has had several ups and downs over the years. His challenges include some gastrointestinal and neurological difficulties which have led to various hospitalizations. He cannot sit or stand on his own and uses a wheelchair or other positioning devices. He is also nonverbal.
We have seen growth in James' abilities over the years because of the support that he gets from various therapies. He is enjoying his in-home school and recently started to learn how to communicate with his eyes using a computer.
Over the last year and a half, his general health has improved greatly and we have been seeing a lot of growth in him developmentally and socially.
The road to a cure
We continue to work closely with our research team to find a treatment for James and the other children affected by CNTNAP1. We have explored a few potential treatment options and believe that gene therapy is the best approach. The team has made significant progress over the years and we are looking to continue supporting their gene therapy studies.
