Person first, Down syndrome second
Every once in a while, you have to call a spade a spade, and I mean that in the Plutarchian sense. I have spent a lifetime defending Will’s identity as a person first, who has Down syndrome second. But sometimes the Down syndrome comes first. As he grows older, or new complications crop up, the medical doctors of the world remind me of that. They are, after all, doctors – scientists who wear lab coats and line up letters after their names like the Cat in the Hat stacks his helpers under his hat.
Alzheimer’s is part of the package
Lately, William has had episodes, or that is what I called them until Friday when I found out that they are seizures. I can’t hold onto the false hope that if I don’t call them that they won’t be that. I even said to the neurologist, what if I don’t believe you? What if I want you to be wrong? What if you are wrong? And he just shrugged his giant lab coat shoulders saying he knows about these things. That people with Down syndrome have seizures, and then they get Alzheimer’s, and that’s about it. That’s the end of it. He has never known it to be any other way. He has never known someone with Down syndrome who didn’t have seizures, or Alzheimer’s. It is just part of the package.
The long list
After William was born and finally diagnosed, even though I knew he had Down syndrome the minute he was born, I got a packet from the Northern New England Down Syndrome Society (NNEDSS). How fortunate that there was someone out there to help me make some sense of all of this Down Syndrome stuff. Someone has to do it. At some point, people need to sit you down and give you the facts, the statistics, and projections of what you’re up against when your son has Down syndrome. The list was long and onerous. It included things like leukemia, Alzheimer’s, dementia, heart defects, etc. I hesitate to look up this list, for fear that I may be leaving something out – some dark cloud that will come floating by one day.
When the neurologist tested Will’s coordination and reflexes he asked him to spin his hands one way in front of him one way and then to reverse the direction. Will had difficulty spinning his hands in reverse as if his brain couldn’t quite tell his hands what to do. Oh, the doctor added to his prognosis of epilepsy, and he has some brain damage. This blew me away. People get brain damage from injuries, hitting their heads, too much football, of which William had done neither. The doctor registered my dumbfounded look. Oh, it could have happened at birth, or been congenital: something in utero. You know, he raised his eyebrows, Down syndrome is like a form of brain damage.
It’s all semantics. Perhaps someone who isn’t acquainted with Down syndrome might read my reaction to these words as a surprise. Down syndrome, Trisomy 21, mental retardation, brain damage – what’s the difference? Who cares?
Not all people with down syndrome get Alzheimer’s
But sometimes you have to call a spade a spade. Otherwise, things catch up to you. You get older and realize that you aren’t prepared to hear and understand the truth. You realize that your son is almost 30 and someone tells you that it is inevitable that he could have Alzheimer’s in the next decade of his life. This, actually, is not true. I gathered the courage to look it up and find that not ALL people with Down syndrome get Alzheimer’s.
Adults with Down syndrome are at increased risk of Alzheimer’s disease as they grow older, but Alzheimer’s disease is not inevitable. There are many other possible issues to consider when concerns about memory arise, so a thoughtful approach is very important.
Chromosome 21 plays a key role in the relationship between Down syndrome and Alzheimer’s disease as it carries a gene that produces one of the key proteins involved with changes in the brain caused by Alzheimer’s.
Down syndrome heaven
Someone told me today that most people with Down syndrome bring sunshine into the world. Anyone who knows William can attest to that. Not only do they bring sunshine, but they also spread it to others like fairy dust. Maybe, she said, Alzheimer’s is where they need to go – their little heaven so to speak – to continue shedding light upon themselves rather than having modern medicine extend their short lives.
Catching the curve ball
People with Down syndrome used to die a lot earlier, of heart defects that doctors didn’t fix, untreated thyroid issues, and eventually early-onset Alzheimer’s. I am not ready to accept this idea of someone giving into a diagnosis that may take William to his special heaven away from the world of which he is such a vibrant part. I am ready to prepare for his future and catching the next curveball that the 21st chromosome throws my way.