"Your son is positive for a CHRNA7 duplication," the geneticist said.
Blank stare.
" He has a duplication."
Blank stare.
"OK" I finally mumbled. " What does that mean exactly?".
He didn't know. Of course, he didn't know. No one seems to know shit nowadays. "Well, children with a duplication often have hypotonia, developmental delay and one day in the future- say 15 to 20 years down the line- he might develop psychiatric problems such as depression, schizophrenia or ADHD. There is nothing you can do that you are not already doing. Keep him in therapy, and we will just have to wait and see."
"Do you have any questions I can answer?" he said as he hands me a Google search printout with some of the same crap he just said. "Is there a study he can join? are you sure there is nothing else I can do?". "No," he said " This is extremely rare, and there is not enough data out there now. In the future they might even just call it "CHRNA7 Duplication Disorder," but for now we don't have any more information".
Lovely. And so my month of May began. Not a tear was shed while there. I remained stone-faced and incredulous to anything this man was saying to me. I got in my car and drove home. It was a long drive. The last three years of my life replayed in my head. The last ten years of my replayed in my head. They have been mostly full of tears, fears, diagnosis, research, doctors, diets, supplements, battles, more tears, and more of the same with Quinn's brother Kai.
I was numb. I got home, and there were some flowers on the table from my best friend with a beautiful support card. She knew I was coming home after an appointment that might turn out to be difficult. I stood there and looked at those beautiful sunflowers, and I started to sob. Frantically. Finally.
Three years with Quinn in diagnosis limbo in addition to the seven I have already spent in Autism hell with Kai. Neurologists and developmental pediatricians saying "this is not autism mom, relax." He's very social, he listens, he points, he seems to understand, and he is affectionate. This new information was finally a clue. A real clue. One with no answers but a step in the right direction. The test that discovered Quinn's duplication was one that was done at birth. The technology was now better three years later, so it caught it. This is what we now know. Quinn has hypotonia, a developmental delay, an MTHFR mutation (described in an older post) and a CHRNA7 duplication. All of that adds up to just one big ole question mark because no one knows what it means exactly. Sigh. Could it be that this is a marker for autism? The genetic predisposition we all speak of? Maybe Quinn was headed towards developing autism, and because of all of the interventions we put in place since birth (diet, supplements, minimal environmental insults and a green initiative at home), it stopped short of it?
All Quinn knows is that he wakes up, happy as can be, and goes to meet his "friends." These friends are all therapists he sees on a daily basis and not little kids like him. He is in a preschool enrichment program 3x a week for a total of 9 hours. He does 1 1/2 hours of physical therapy a week, 4 hours of ABA (verbal behavior), and a 1/2 hour of occupational therapy. That's 15 hours of work that he puts in. Hard work at that. He's three years old. He just started walking, and he's the most determined little boy I have ever met. I want so badly to give him a typical childhood void of those 15 hours of "work." He has no clue this is not how his life is supposed to be.
I am in a race running in a constant loop. I am out of breath, and I still can't see the finish line. I have no choice than to keep running.The craziest part is that this is all far from over. As of now, there is no new information out there. I have started to contact a specialist from another state that focuses on duplications and deletions. I have also started a parent group in the hopes of bringing together parents that might be in the same limbo like me. One day at a time right?
