The news that scientists at the University of Massachusetts Medical School in Worcester have discovered a way to turn off the chromosome that causes Down syndrome is creating quite a buzz in the news and in clinics, hospitals and homes worldwide.
People are born with 23 pairs of chromosomes, including two sex chromosomes, making a total of 46 in each cell. Individuals with Down syndrome (or Trisomy 21 as it is also called) are born with 3 copies of the 21st chromosome. The expression of this extra genetic material causes an array of medical and developmental challenges. People with Down syndrome have intellectual and learning challenges, early onset of Alzheimer’s disease and they are at a greater risk for congenital heart defects and leukemia. They are also short in stature.
The possibilities are exciting. In the future, the ability of scientists to turn off the expression of the extra genetic gift that causes Down syndrome could alter the medical and cognitive problems associated with it.
This news hit my home directly and personally. Over 20 years ago, I learned that the human growth hormone used to treat children’s growth disorders could have applicability to increasing the height and perhaps the head size of my son, Jon, who has Down syndrome. Since the treatment was not covered by insurance, except in certain circumstances, it came with a very high price tag.
It also came at the same time that we received a small settlement as a result of abuse that Jon had suffered by the individual driving him to school. We had an opportunity and we now had the way to fund it. Before making a decision, we consulted with physicians and medical ethicists. They asked us to consider the needs of our entire family versus the gains that would be achieved by one member of the family.
Conflicted, I decided to put the question to Jon, at that time a twelve year old. He knew he was shorter than his peers, so I presented it to him like this: There is some medicine that can make you taller. Would you like to be taller? Jon did not hesitate to answer, “I like the way I am.” Decision made. No human growth hormone.
This week, the same announcement about the UMass researchers also contained the news that researchers at Massachusetts General Hospital will soon be enrolling adults with Down syndrome in a clinical trial of two drugs that hold promise to increase the cognitive functioning in adults.
This time I didn’t need to consult with physicians or ethicists. I immediately discussed the possibility of seeing if Jon could be part of the upcoming clinical trials with my husband. Just a few IQ points could make Jon’s life easier- from being able to read complicated transportation schedules or understanding the interactions of over-the-counter medications could increase the quality of his already independent life.
My husband said he would support it if there was a guarantee that it would not affect his sweetness, humor or affection.
Because we love him the way he is.
Jo Ann Simons is a Disability Advisor to the Ruderman Family Foundation and President and CEO of the Cardinal Cushing Centers
Read our last post: We’re Not Different by Nick Savarese of Special Olympics, Massachusetts
Come visit us on Facebook to learn more about inclusion of people with disabilities