Monday, August 30, 2010


Something has really stuck with me since the Moms' night I attended last week, and that is in regards to the topic of Research. I am learning that it is an exciting time in the field of Down Syndrome research. A mouse model has been developed that is helping scientists to understand the cognitive problems with people who have Down syndrome. There is also a significant link between Down syndrome and Alzheimer's Disease in that the brain's neurons seem to be effected the same way...and it is part of why nearly every older person with Down syndrome develops Alzheimer's. Did that get you the way it does me? It's like my brain hiccups over and over...Alzheimer's too? Alzheimer's too?

One of the women I spoke to last week commented in regards to a pharmaceutical treatment that could help improve cognitive function in people with Down syndrome, by saying, "If my son might only live to be 40, but would have a significantly improved life, I would want that for him!" What wasn't said, was what haunts me: That there might very well be that risk and that choice. A drug designed to improve cognitive function might very well come along with a handful of other side effects that could shorten lifespan. I mean, I laugh at these commercials: Are you suffering from weak bladder control? Take this drug and your symptoms could improve! Side effects include weight gain, seizures, loss of sex drive, profuse sweating, constipation, dizziness, and in some patients with high blood pressure could result in fatalities. I mean, SERIOUSLY?? Even though the pseudo-commercial I made up is not real, the side effects from prescription drug use is no laughing matter.  I have always been vehemently against long term prescription drug use as anything other than a last resort.  However, I have really never had anything more serious than occasional low blood sugar issues to contend with.

I spent some time looking at the current research and developments of a treatment that could improve the symptoms that come along with Down syndrome.  Notice that I do not say Cure Down syndrome.  There, of course, is no cure because Down syndrome is an additional copy of the 21st chromosome present in every cell in the body.  I also point this out because there is absolutely nothing about my son that I think needs "curing".  He is perfect.  Natasha, one of the Moms I met last week, told me the story of her daughter's birth: They did no prenatal testing and didn't know she had Ds until after she was born.  For something like 36 hours after her birth, they held her and breathed her in and thought, She's perfect.  When the doctors returned with their genetic tests that confirmed a Ds diagnosis, they were scared and inundated with a list of all of the medical complications that can be present.  But, what my new friend, Natasha, says now: That what they knew at their daughter's birth was really the REAL truth: She is perfect.  I like that modern medicine is not trying to change who these people are.  They are simply looking for breakthroughs that can improve their lives.  Once they tackle that problem, I personally think it might be worth a few research dollars to figure out what makes them (people with Ds) such loving souls, and find a treatment to give all of us who are so busy worrying what everyone else thinks to see love the same way.

My heart is heavy about the research a little.  It means that one day I may have to make a very difficult decision on behalf of my youngest son.  After reading a good bit of information on available protocols this weekend, I had to turn it off and walk away...and have a good cry.  I don't want to be responsible for this.  I don't want to have to decide shorter lifespan vs. quality of life.  But, as a parent, I want everything for my children.  I guess I wouldn't be a good parent if I didn't.  I'm thankful for Elijah as an infant.  I just get to enjoy him...and enjoy him, I am!! He's too little to have to dive too far into this information, especially considering that there are no clinical trials under way on humans yet anyway (though they seem in our near future- perhaps as soon as a year from now).  And Elijah has a little magic trick already: No matter how wound up I get about any subject, I can hold him and look into his sweet face...that lights up in a huge smile that magically wipes away all of my dark clouds.  It's a good thing that he is so quick to smile at me.  This way, no matter how many dark clouds pass my way, he'll use his magic and remind me that what's important now is simple. A smile. Love. Happiness. A complete family.

Enough said.


And finally a photo of my complete family...


Tricia said...

I find it interesting that people are trying to improve the "quality" of life for people with DS. Shoot... sometimes I wish I had DS. I think the quality of my life would be better. I would probably worry far less, judge- far less and love- far more. What is there to change? Elijah is perfect just the way he is. I feel so very blessed to have him in my life and I don't think he needs a change in the "quality" of his life. He has a family that loves him to pieces and he will be successful... because after all who really is the true judge of success anyway? Love you Jen!!!!

P said...

I find it frustrating that the information I've seen always lists percentage for this diagnosis and that but never have I seen a statistic for percentage of Alzheimers! Are there sources that state the percentage as close to inevitable (100%)?

Research funds are flowing in it seems for the Alzheimers which impacts so many people in this and all communities. Identiftying gene mapping etc is unique with DS, and I believe helps with cancer research too as the incidence of most cancers is lower (besides a double incidence of leukemia).

Let's keep up hope and no, those choices are not for us to make--I agree but ooh, I hope we don't have to in such a profound way. All of our choices impact our longevity but not so obviously!!

I saw the book and Jagat's beautiful musings on you and Elijah. I'm speechless, chills and as always, so grateful for your journey you choose to share in such a helpful way!

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