Living with a Chromosome Disorder
It's so rare, it doesn't even have a name.
What makes me want to write about my son’s chromosome disorder? At the moment, it’s to bring awareness. While I write this, I just comforted Gray out of a really nasty night terror, which can happen for even a typical child. But for him it’s a bit different. He just woke up out of the sleepy haze of his morning dose of anti-anxiety medicine. I hate the side effects of the drug, but with my son, you control the anxiety, you control the seizures. He’s gone seizure-free for the most part for over a year. But then you have to deal with the backlash of the nasties that pop up now that the seizures and anxiety are controlled.
Gray suffers from a disorder called 2p16.3 Deletion Syndrome that is full of medical jargon, or as I call it Latin-based poop. It’s scary; I mean really scary, because we don’t know what will happen from day to day. I’m a part of several groups on Facebook that involve parents with children that share the deletion. It breaks my heart to hear how much worse they are affected, and it also makes me thankful that Gray, with proper help and services, can have a fulfilling life.
When I found out about the deletion, it was, for lack of a better word, interesting. Very little information is known about it outside of the medical world, and very few parents are talking about it. Maybe me writing it from a parent’s standpoint might be able to help another.
This disorder has so many unknowns. We found out in September 2014 that Gray has the deletion, and I found out that next November that he inherited it from me. It was shocking, and when I told family, some said whatever. My mom’s reaction was more like “well, that explains a lot.” She was with my dad for over 30 years before they divorced in 2012. Going through all of the medical research and speaking with a lot of other people has helped explain a lot of the quirks and idiosyncrasies that are a part of my family.
2p16.3 means that a piece of chromosome information is missing and it affects every cell of the body. The number is not known of how many are affected worldwide.
What is very common in sufferers is autism, seizures, learning disabilities, and delays. And the word that shall not be spoken, schizophrenia, has been linked, but not exactly studied. Am I scared that Gray could become schizophrenic? Yes, but am I going to let it rule learning about it? Nope.
Most of what I’ve learned about the deletion is very scientific. I’ve had to use a lot of Google to figure out what a lot of things mean and hopefully find a plausible explanation that can be given to somebody that is not a doctor.
Just like autism spectrum disorder, the 2p16.3 looks different for everyone. And when I say different, I mean literally. I have it, but have been affected by it very little. My son has it, and is almost the poster child for symptoms. No two cases are alike. What is the life prognosis of people with this deletion? No freakin’ clue. I have it, and as of right now I am a 30 something mother of two. Gray is school-aged. Could he fall over tomorrow? No idea, but that’s the roll of the dice for you.
Because of Gray’s deletion being hereditary, he has a 50/50 chance of passing it on to his children just the same as I gave it to him. But his future children, if he has any, could be born with it and not be affected or not have the deletion at all.
As for the Gray I have right now, here’s what I can tell you:
- He loves the Cars movies and anything with wheels.
- He has a love/hate relationship with his little brother.
- He loves his Mimi and Sippi, his grandmothers.
- He loves his trampoline.
- He loves to run around literally for hours.
- Anything shiny catches his attention.
- He loves to say the words “doo, doo.”
- Potty training was an adventure.
- He loves skin-to-skin contact, holding hands, and having his back rubbed.
- He really, really likes to talk, and his thought process boggles my mind.
- He also does things that make me laugh so hard I almost pee on myself.
- He will eat his weight in onions and lettuce. I think I have a rabbit in the making.
- He is a loving goofball.
- He is obsessed with keeping his toys organized and separated.
- His memory recall is incredible.
This is what a chromosome disorder looks like for us. What does it look like for you?