Meet AHC Champion James (MA, USA)
1 in a million
That is what they said when they told us the odds of Jamesâ€™ diagnosis. 1 in a million.
Itâ€™s a funny odd. Most people throw it around in a positive way, â€œyouâ€™re one in a million!â€ Others associate it with the chances of winning the lottery or becoming a professional athlete. We had no idea there was a chance like this
Our son was diagnosed with Alternating Hemiplegia of Childhood (AHC) right around his first birthday. The year leading up to this moment was nothing short of eventful. Three multi-Â day hospital stays, lots of videos capturing his â€œfunnyâ€ moments, lots of prayers that perhaps this is something heâ€™d just grow out of and lots of days in between where he was just a regular drooling, cooing baby boy.
As new parents there were many times we thought, â€œwell perhaps this is just what babies doâ€. But no matter how much you donâ€™t know about raising a child you KNOW when there is something just not right.
When James was born he spent 10 days in NICU. The nurses thought he was having seizures hours after his birth. After many tests it was deemed that perhaps he was posturing because of a headache. I mean he did spend at least 4 hours in the birth canal while I pushed my hardest only to come out cesarean section. Who wouldnâ€™t have a headache after that?
We happily took him home on the 10th day thinking perhaps that was the end of his dramatic entrance into the world. But, there were these moments where we noticed he just wasnâ€™t himself. He seemed in slow motion, or â€œstuckâ€. When he would become overwhelmed his eyes would cross in a dramatic fashion. He would get so frustrated and nothing would help but a period of sleep.
Numerous appointments were made and tests were done. EEGs, EKGs, MRIs… you name 3 letters, weâ€™ve probably done it. It was only until he had genetic blood test done that we had our answer. His ATP1A3 gene was mutated. There was no question it was AHC.
Mutated. I always liked to think in a 13-year-old way that a mutation would lead to something Professor X would want in his school. Invisibility! Wings! Lasers out his eyes like Cyclops. Alas, no, I live in the real world and his mutation would mean something else entirely.
At 16 months, his AHC has manifested into moments where he will have weakness in one side of his body or the other. He could be playing with a few toys minding his own business when one arm decides just to stop working.Â If it gets worse, two arms… and if it gets even worse… the legs. Then the head control – then weâ€™re carrying around a 21lb toddler who is PISSED at the fact he cannot move. This could last hours, even days.
Weâ€™ve stopped feeling sorry for him and myself. Oh sure, at first we were devastated and mad and oh so frustrated. What the hell. Why James!? Why us!? Why ANY of these kids…they certainly didnâ€™t deserve it. But we couldnâ€™t dwell in our anger for long because we did have a beautiful little boy, who smiles and laughs and loves playing peekaboo.
I wonâ€™t lie, I watch moms letting their toddlers roam free just watching over them from afar – wishing to have that for a moment. I know he wishes it too – wishes he can be free of my balancing arms. Wishing he could trust his body to not let him down.
Itâ€™s funny, I still donâ€™t see myself as the parent of a special needs child but I am. Thereâ€™s no hiding the fact that he will have a tougher road than most. That Iâ€™ll have a few more worries than normal (how thatâ€™s even possible I do not know!). I consider myself lucky to be a part of this unique community. Iâ€™ve seen such compassion and have met so many parents who are willing to help and share their advice. I can only hope to return or pay forward all the support they have shown me and my family.
Weâ€™ve been lucky to have so many wonderful programs available to us. I cannot say enough great things about what Early Intervention has done for our son. Itâ€™s given us such hope. Hope that he will be able to do the things he wants to do. That heâ€™ll be able to go to school and enjoy his childhood. That heâ€™ll have a wonderful HS experience, maybe even college! That heâ€™ll get to do something he loves and is passionate about.
My OB joked that while perhaps he probably couldnâ€™t be a surgeon he could certainly be a research doctor, or a lawyer or at the very least he could be independently wealthy and hire a driver. My mother who is a beacon of positivity tells me everyday that this boy, â€œis going to surprise us all.â€ We believe it.
Our family has been given a challenge an and in a way I believe weâ€™ve been given an opportunity. Opportunity to make a difference in the lives of all those who live with AHC. Opportunity to help educate others on this rare disorder and help find a treatment. Opportunity to add to the community around us with a child who can show everyone that despite his disability that he and we all have the ability to surprise.
Thank you so much Margaux for sharing James’s story and for helping to raise awareness about AHC!