Our perfect baby.

Just days before his due date, Connor arrived on September 24th, 2019. Perfectly healthy and everything we could have ever wanted. We were all so in love, including his big sister.

Two weeks in…

the seizures began. One day Connor’s eyes began darting back and forth quickly. His back arched and his head locked to the side while his arm stretched out far from his body. We watched him confused but in a state of alarm; he didn’t seem to be in any pain but something didn’t seem right. After about a minute the episode ended and Connor resumed nursing as if nothing had happened. We weren’t able to brush it off so easily. As the frequency of the attacks grew over the next few days, so did Connor’s obvious pain. We needed to act.

Looking for answers.

Our local hospital ran some basic tests that all came back normal. They were at a loss but recommended we follow up with specialists at Lurie’s Children’s Hospital in Chicago. Here is where Connor’s journey truly began. After two EEG’s, bloodwork, a CT, an MRI, and the analysis of a whole team of doctors, Connor was sent home on an anti-seizure medication pending the results of genetic testing. Four weeks later, we got the answer we never wanted to hear.

ATP1A3 Gene Mutation.

Since receiving Connor’s diagnosis, we’ve connected with incredible doctors, therapists, families and support networks. Connor's seizures have so far been controlled by medication. He works through his developmental delay and low muscle tone at weekly physical therapy appointments. Most children don't develop their first hemiplegic episodes until 6-12 months; Connor is 5 months old. Every day we wait for that first bomb to drop. We wait for the hallmark of the disease to take place - first his eyes may begin to dart back and forth. Then he will likely experience total paralysis of one side of his body. One of his arms or legs may lock up painfully with no way to relieve the cramp. He may develop difficulty breathing or a number of other complications. This episode may last for minutes. Or hours. Or days. Or weeks. So we wait. But while we wait we fight for a cure. We fight to find funding to accelerate the incredible research being done. We fight to give Connor and others like him a chance at getting back their childhood. 

Learn more at www.connorschances.com

With funds raised from the AHC Foundation, we will support AAV gene therapy and other research related to the project.  We believe a path has been identified to a viable permanent treatment: gene therapy.  The gene therapy we propose will involve inserting a functional copy of the ATP1A3 gene into a virus (an adeno-associated virus or AAV) that has been stripped of its harmful payload and its ability to reproduce. The virus will then be injected into the cerebrospinal fluid and will carry the functional gene to the cells in the brain that are failing. By delivering additional functional copies of the gene, we should be able to rescue those cells, and treat the disease permanently. 

Learn more about the project here.