Spotlight on AHC Champion Connor

Spotlight on AHC Champion Connor

This month we feature Connor, from Michigan. His story is told by his mother, Michele.
AHC Champion Connor giving thumbs up
Our champion, Connor, was born 5 weeks early on October 9th, 2004. The first year he seemed on track with only a few delays. At 18 months he lost movement of his right side and they thought he had a stroke and was in ICU for a week. He then was diagnosed with epilepsy and began having seizures the next several years. Doctors  wanted to do surgery to remove almost half of his left brain, but our little miracle stabilized and we did not do surgery! He’s currently been off seizure medication for many years and doctors can’t explain why because his PET scan shows that he should be having seizures. We hope he stays seizure free.
The next several years brought other diagnosis: Global developmental delays, Mild Cerebral Palsy, Severe ADD, Sleep Apnea, Cyclic vomiting syndrome and Anxiety with Trichotrilomania (pulling out hair). In January of 2015 at 10 years old, he started regressing. He was always delayed a couple years, but this was different. He went back 3 reading levels and could hardly write anymore. Our local Children’s Hospital ran many tests throughout the year and we also traveled to Johns Hopkins. An exome sequence blood test finally gave us another diagnosis, AHC. He had an ATP1A2 gene mutation. Most with AHC have a mutation of the ATP1A2 gene. We are looking to connect with others that have the ATP1A2 gene mutation. Please email me at Maxfield371@sbcglobal.net.
We found a video of Jeff and Cure AHC on Face Book. In April we spent an amazing week at Duke and feel so blessed to have this amazing program and such passionate doctors trying to find a cure.
Connor’s smiles and determination to make the best of each day bring us so much joy!  It’s been quite the journey and we’ll continue to fight to help Connor and others with rare diseases.
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