Unravel the Mysteries

I say that I want research to unravel all the mysteries of Down syndrome... why people with 47 chromosomes have certain higher health risks and other lower health risks than people with only 46... but then I picture a beautiful sweater with a tail of yarn being pulled and before my eyes it unravels and disappears. Queue my endless pondering of the physiological make up of humans... how their personalities might be connected to their physical selves.

My friend Becca over at The Bates Motel is hosting a blog hop and asking the question: What would you like to see research achieve for our kids in the near future? Top on my list is a cure for Alzheimer's disease. That is pretty much the only health-risk I fear now for my girls. People with Down syndrome are prone to early Alzheimer’s and in fact show physical signs of it in the brain as young as four months old.

In a nutshell, almost all people with Ds have brain changes characteristic of Alzheimer’s disease, yet only about 50% of them develop the symptoms of dementia. The 21st chromosome is responsible for making the chemical APP which turns into plaques that wrap around nerve cells in the brain. That plaque is the precursor to developing Alzheimer’s. So why don’t the other 50% of people with Ds develop the disease? Answer that question and you probably will have the cure.

I don’t just fear Alzheimer’s for my girls... I am afraid it will get my mother like it did her mother. I am afraid that one day it will come for me. I hate Alzheimer’s, hate what it did to my grandmother. It took her short-term memory. It took her processing speed. It took her independence. It took her desire to be alive.

If curing Alzheimer’s somehow led to early preventative drug therapies for people with Down syndrome that had concurrent effects on cognition which had effects on personality development, would I still want it? Yes, yes I would.

I refuse to trade my girls’ best possible health for some adorable personality traits that may or may not be tied to the continued unbridled activity of a third copy of the 21st chromosome on their brains. Who am I to say that because I love them as they are, they can never be allowed to change?


Check out these other posts on research and Down syndrome... especially The Ordinary Life of an Extraordinary Girl because she says it, OMG... she says it!