Showing posts with label medical breakthroughs. Show all posts
Showing posts with label medical breakthroughs. Show all posts

Wednesday, March 9, 2011

Non-invasive Test for Down Syndrome by 2013

A cheaper and quicker blood sampling method to test for Down syndrome is reportedly going to be available to pregnant women by 2013. I'm all for non-invasive testing that takes away the risk to the unborn child. But it seems like the risk to an unborn baby with Down syndrome increases - the risk of termination.

The general perspective about Down syndrome is relatively better today than it was 20 or more years ago. Unfortunately, despite the awareness generated over the past several years by organized groups, blogs, families, and self-advocates with Down syndrome, there is still a lot of work to do. Headlines like Down's syndrome test breakthrough 'on the horizon', New screening halves the number of children born with Down syndrome, and Non-invasive screening in early pregnancy reduces Down's births by 50 percent make it alarmingly apparent that society in general has not really changed their minds about Down syndrome.

I reshared a friend's status on my facebook wall yesterday (referring to the article Down's syndrome test breakthrough 'on the horizon'):

"He said...[this] will encourage more couples to take the test and therefore slowly eradicate the disease." The "disease" being Down syndrome. MY KID. Could they be any more obvious? I'm all for early detection if it means bringing babies into this world more safely; we knew ahead and I'm glad for that. But suggesting this as a means of eradicating my child and people like him is just sickening.

It's so sad.

If tested positive, why not encourage more proactive prenatal care and perhaps a form of targeted nutritional intervention (TNI) as the baby develops in utero instead of suggesting or encouraging termination? Is there scientific research about prenatal care for preventing or lessening the chances for heart defects and other common issues in newborns with DS, thus giving them a healthier start in life?

There is no cure for Down syndrome. But many individuals with Down syndrome are leading happy and productive lives. The general consensus among families and friends of people with Down syndrome is that people with DS bring out the best in us and give our lives more meaning. I agree 100%.

What's next? There is no cure for autism, cerebral palsy, and other conditions. If a non-invasive blood test to detect these in utero is developed, would it also be viewed as a means for eradicating fetuses diagnosed with such conditions?

Thursday, June 4, 2009

Down Syndrome Gene Could Fight Cancer

The Boston Globe published A Medical Puzzle Yields Cancer Clue - Downs Gene Starves Growth of Tumors on June 1, 2009. The news article reports this amazing groundbreaking discovery saying:
"...their discovery could provide a beacon to scientists developing treatments and preventive medications designed to be broadly effective against cancer, wherever it resides in the body."
"The scientists discovered that the extra chromosome carried by people with Down syndrome - which causes the condition's distinctive features - harbors a gene responsible for starving tumors of the blood they need to survive and flourish."
"...these individuals with Downs potentially hold a secret that might lead to quite substantial and revolutionary new treatments for cancer."

Note that this significant finding connects the Down syndrome gene to possibly developing treatments and preventive medications to solid tumors, excuding leukemia, which is a blood-borne cancer.

Cancer is hereditary in our family, at least on my dad's side of the family. Two years ago, my grandpa (my dad's dad) in the Philippines was diagnosed with stage 4 colon cancer and passed away a few months later. I found out about his diagnosis via an overseas phone call from my dad, which was coincidentally the same day that I found out I was pregnant with Matthew. The fact that I got happy news and sad news in one day doesn't indicate anything but pure coincidence. But because of the diagnoses of cancer and Down syndrome with two people near and dear to me, this news article struck a chord with me.

I look at Matthew and remember what my aunt had said when he was born: "Matthew has yet to touch so many people's lives in the many years to come!" I never imagined that one of the ways could possibly be through genetics, with the potential to alter the medical landscape for cancer treatments. That is simply incredible!