The Way He Is

simonsby: Jo Ann Simons

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.

Jo Ann and her son Jon

Jo Ann and her son Jon

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

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Filed under Disabilities rights, Down syndrome, perceptions of disability

17 responses to “The Way He Is

  1. Marie E. Dolan

    Dear Jo Ann,
    When I forwarded the article from the French news about Trisomy 21 and you said you would have to think aobut it I did not expect this so soon. I really like your thoughtful response to the news in this field. The photographs are lovelyWW

  2. Jo Ann–what a novel approach, asking your child if they would like medical treatment! 😉 Thank you for continuing to lead by example.

  3. JoAnn – Your answer is right on. WHile it would be great if my son had improved cognitive abilities, I love him just the way he is– stubborness and all!

  4. Jo Ann

    Marcy, Don’t know if you saw it or your group might like it. Regardless of our child’s diagnosis, we are all going to face these kinds of issues in the futue. Jo

    Jo Ann Simons

  5. mandy behlen

    have to say my thoughts exactly … love our 6 yr. sweet boy in everyway he is .. and yes I am including the stubborn part too– I say he turns to a lump of jello and no matter how big and strong you are — he’s 50 lbs. of jello..giggling.. as his nunna with back fusions this is hard but there’s always away around it and a bribe that works !! wouldn’t change on ounce of him for the world he has showed and taught our family about–all the things we were missing and didn’t know… xoxoxo… ❤ our bugg's –nunna and poppa ❤

  6. My son, Carson, is 24 years old now, and I wouldn’t want to do anything that changes, adjusts, modifies or negates that good things about him. And I can’t think of one thing that is bad that is related to Trisomy 21. We’ve been fortunate in areas related to possible health issues, but then life itself is a bit of a crap shoot, so even the healthiest of us has no guarantees in that regard. The only thing I could think of is Carson is a valuable member of his Special Olympics basketball team, and has earned is spot on the starting line up, where the height ranges between 6′ and 6’5″, and he is just pushing 5’6″. Yet I’ve asked, if there were a magic wand, would he want to be taller, and he’s said “No. I’m happy at this height, I just have to make what I’ve got count.” His words. I love every inch of him, his character, and the character of his peers. That worth can’t be measured, compared or exchanged as there is nothing of greater value that I’ve seen in this world to date.

    • Kurc,
      Thanks for writing the sentiments that so many of us share. I would have liked to have spared my son’s three difficult open heard procedures and the pain and discomfort that accompanies them. And more coming.
      Jo Ann

  7. You’re welcome – interesting news, I thought.

  8. Tracie

    Do you have any information on this study? Is this study currently in enrollment, seeking participants? It’s something I would consider for my daughter and something I think she would as well.

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