Connor’s journey, from the beginning.
The 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 in a state of alarm but confused; 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 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. Six 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 through the Alternating Hemiplegia of Childhood Foundation (AHCF).
Connor's episodes have so far been controlled by medication. At a few months old he worked through his developmental delays and low muscle tone at weekly physical, speech, and occupational therapy appointments. Most children don't develop their first hemiplegic episodes until 6-12 months; we waited but they never came. At almost 4 years old we continue to wait for that first bomb to drop on Connor. 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 with no guarantee that it will ever come. Until then we run from the cloud that threatens to loom over us. 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.
Rare Progress in a Rare Fight
Today Connor continues to defy the odds. We’ve learned the variation of his mutation is just one of 10 known in the world. Connor is an energetic, goofy entertainer who loves to tell stories, dance, use any kind of power tool, and snuggle up to watch movies. His development has continued on track with some hiccups along the way. Currently we watch him closely as he’s beginning to demonstrate signs of confusion and short term memory decline. We continue to pray he overcomes these roadblocks in the same inspiring way he has tackled others.