Once upon a time there lived a little girl who loved life and lived it to the fullest. She was energetic and tenacious, smart and imaginative, kind and outgoing. But she knew that she was different from the other little girls in the land and was sad that because of that difference they sometimes didn't want to play with her. She complained that often when she tried to do things that she needed to do her brain wouldn't work right, and she knew that this was part of what made her different from the other little girls. Her parents loved her dearly for who she was and rejoiced in all that was unique about her, but they also grieved with her when she was frustrated or lonely. Then one day her fairy godmother appeared to her and offered a magic pill that would make her brain work better...
It's not a fairy tale. This is our actual life with Margot, and there really is a potentially magic pill on offer. Cognitive research into Down syndrome is at this very moment on the brink of realizing drug therapies that could reverse some of the disabling cognitive effects of the extra 21st chromosome in people with Down syndrome. Not just the ones that Margot experiences right now, but also the dementia that will otherwise certainly overtake her by the time she reaches middle age. So, while I love my girl exactly the way the way she is, I also unabashedly support the cognitive research that could provide her opportunities in life that the rest of us take for granted. Here's the low-down:
The cognitive therapies in development are expected to improve IQs by five to ten points. People with Down syndrome usually have mild to moderate cognitive impairment. A gain of just five IQ points would allow someone like Margot to be more fully included with her peers throughout the rest of her education, and give her a needed measure of independence someday when I'm not around anymore to take care of her. That's huge, but there's more that affects all of us even more directly.
While we're at it, let's cure Alzheimer's. This has got to be the most under-reported story of the decade. It turns out that the gene for the disease resides on that tricksy little 21st chromosome that's triplicated in people with Down syndrome. That's why everyone with the syndrome will eventually get Alzheimer's, most beginning around age 35. It's also why people with Down syndrome hold the key to eradicating this disease that so terribly affects the general population. Researchers who discovered the link between Alzheimer's and Down syndrome are now studying how they might stop the over-expression of the relevant genes. For the first time, we can try new therapies on Alzheimer's victims before the onset of the dementia, and so evaluate their preventive potential. Alzheimer's as we know it could be completely eradicated in our lifetime, but it's only the cognitive research into Down syndrome that's likely to bring this about.
Today is World Down Syndrome Day (3/21 - get it? Three copies of the 21st chromosome?). Just today, the LuMind Foundation, which raises funds for exactly the cognitive research I've just described, will match all donations 3 to 1 (get it?). Your gift of just $21 (get it?) today will result in $63 for cognitive research. $100 becomes $300, and so on. Do it for Margot and all our friends with Down syndrome. Do it for your parents. Do it for yourself, too. If you're able, please consider a gift today. This is as close as we're going to get, in real life, to a fairy tale ending.
