by Joseph M. Valenzano, Jr.
I had occasion to read a paper recently published in the American Journal of Medical Genetics that estimated the number of abortions that occur each year following a positive prenatal diagnosis of Down syndrome to be more than 3,100! Now, in the context of roughly 4.0 million babies born in the U.S. each year, and even when viewed in the context of roughly 500,000 births classified as premature, this number does not seem like much. But, in my mind it is. In my mind, it is tragic. More importantly, it seems that each day the situation becomes more threatening. As an example, there is a new urine test that may soon be commercially available which the manufacturer claims is 90% accurate in identifying a Down syndrome pregnancy as early as eight weeks, and in just one minute, with an inexpensive over the counter product. In light of the tragic number above, think of what the possible consequences will be when this test becomes comercially available! The current situation is likely to get worse.
Dr. Jerome LeJeune said, “the only way to save them is to “cure” them.” The trouble is that there are many….physicians, scientists, researchers and parents…who ask why we should dedicate so much time, money and research to children and adults living with Down syndrome. After all, they reason, it is not a fatal disorder or even a terribly debilitating one; and children with Down syndrome are really adorable, caring and loving. Some of these have even said “why support research when we already have a “cure”….and that “cure” is prenatal diagnosis and abortion! The evidence to support this last statement is clear and compelling. There has been far more money spent to develop increasingly sophisticated methods of prenatal diagnosis (like new urine tests that are supposedly 90% accurate), than has been spent trying to find solutions that will reverse this sad statistic of an estimated 3,000+ abortions in the United States alone, each and every year! And I am of the opinion that it can be changed if people understand a bit more about what is happening with respect to Down syndrome research.
People at the Jerome LeJeune Foundation are committed to this effort and are, in fact, closing in on some results from exciting research they have been involved in. One such project involves supporting clinical trials on the international level on safe drugs to improve the lives of people with Down syndrome. One team in Barcelona, Spain will soon publish the results of their recently concluded phase 2 clinical trial, and there is work going on to support the next step. In this next phase, the age of patients will be lowered and the trial will be refined and expanded. Preliminary results indicate the findings have proven the drug to be safe and to some extent effective. The Jerome LeJeune Foundation believes that this new drug to treat intellectual disability in Down syndrome will be in early clinical trials, sometime in 2017. It could well be the very first new drug developed to treat intellectual disability in Down syndrome. It should be noted that there is other research going on with re-purposed, existing drugs, but this will be the first new drug introduced.
So now the question is…is it worth what it costs to help these special members of our human family live–and to live healthy and fulfilled lives? Dr. LeJeune thought so, and so do I. Dr. LeJeune so eloquently quantified the costs for us when he said, “We can assign a value to that price: it is precisely what a society must pay to remain fully human.” And Hubert Humphrey, former Vice President of the United States, reminded us that, “All great societies are measured by how they treat and regard their most vulnerable citizens.”
I’d like to also advance two other brief reasons why we, as a nation, should support continued research into the development of prenatal treatments that will save the lives of babies prenatally diagnosed with Down Syndrome. First, and this comes from the vast experience garnered by Exceptional Parent Magazine over 44 years of continuous publishing. Parents who receive a prenatal diagnosis of Down syndrome fear having a child with an intellectual disability, or what was usually called mental retardation. The majority of these parents act on that fear by ending their pregnancy. Abortion is especially tragic when the decision is made within stable families following the results of a prenatal test indicating a child will be born with a disability. Families who make this choice typically experience profound grief, unhappiness, marital stress and often depression. Secondly, Down syndrome is a neurodegenerative disorder. This means that people with Down syndrome, thanks to medical technology and advances in medical interventions, are now living longer lives and the degenerative effects of living with an extra 21st chromosome can be devastating over time. All will have the neurological features of Alzheimers disease at some point, usually by the time they are 35 to 40, and as many as 80% will develop some level of dementia. Like all of us, these folks deserve to live healthy and fulfilled lives from the beginning to the end of their lives.
As the President, CEO and Publisher of Exceptional Parent, I have personally seen thousands of children over the years with Down syndrome and they are, to my mind, among the greatest of God’s gifts to us. They are loving, caring and sensitive and they have the same likes, desires and needs as every one of us. They deserve a chance to live a good life and contribute to society. So one might say, well how can they be expected to contribute to our society? My response would be this:
Some time ago, Rick Rader, MD and I did a story in Exceptional Parent about a young 17-year- old with Down syndrome who was on the football team at a high school in Ohio. The young man had never played a single down in four years for his high school team, but he was a member of the team for all of those years team. In the last game of the season, and this young man’s football career, the coach called the opposing coach and suggested something I found rather interesting. He suggested that if the game was one sided, and the outcome pretty much determined, at a pre-arranged time he would put the young man into the game as a running back, and both teams would essentially “go through the motions” and allow him to score a touchdown. And they did. Defensive players “attempted” to tackle him on his way to the goal line, but “failed.” Our “star running back” scored his first touchdown. The cheers from both sides of the stadium were overwhelming…and so were the tears of joy. They had made this young man’s day and provided a huge dose of self-esteem to him. But there was also something quite profound that came about because of this one unselfish act.
Players, cheerleaders, fans and coaches alike had done a wonderful thing for this young man and they deserved the applause. But, the thought struck me; what if just one of those players on the field, or one of the cheerleaders on the sidelines that day, took the lessons they had learned to heart and went on to become a scientist or researcher or physician and dedicated his or her life to improving the quality of life for people with Down syndrome or some other genetically inherited disorder? Or, what if the clinical trials to develop a drug to treat this intellectual disability prove successful…thanks to the efforts of one of these players, cheerleaders, fans, etc. Imagine how things would change if we could tell a mother who is given a diagnosis that her child is likely to be born with Down syndrome, and that we now have a treatment available that will allow her child to be born very much like his or her typical peers. I’d bet most would overcome their fear, and happily welcome that child into their family. Nice thought, isn’t it? We have it within our power to make it a reality.
Isn’t that worth our best efforts? Doesn’t that deliver a much needed message that all lives do indeed matter!
God bless
Sincerely,
Joseph M. Valenzano, Jr.
President, CEO & Publisher ep Magazine (EP World, Inc.)
www.eparent.com
The impetus for this article comes from a recent press release from the Jerome LeJeune Foundation in Philadelphia, PA and www.lejeuneusa.org Additional information has been added by EP.
