I enjoyed reading Amy Julia Becker’s thought provoking blog post on July 24, 2014, “Three Reasons Why We Might Not Want to Cure Down Syndrome”. As a counterpoint, I thought I would propose three reasons why we might WANT to cure Down syndrome.
If you didn’t see it, Amy Julia’s post reflected on a recent discovery at the University of Massachusetts, first reported in Nature, that sparked considerable online dialog regarding the nature of Down syndrome, and the potential effect of a “cure” on those affected by it. In 1958 Jérôme Lejeune discovered that an extra 21st chromosome causes Down syndrome. In an amazing feat, researchers in Dr. Jeanne Lawrence’s lab completely silenced the extra 21st chromosome by introducing an X-inactivation gene (XIST) into the 21st chromosome of induced pluripotent stem cells. The real purpose of XIST is to silence the second X chromosome in females. This was actually the second time that the extra copy of the 21st chromosome was silenced, the other being with a different technique at the University of Washington in November 2012. These two discoveries prove that science has come a long way toward reinforcing Jérôme Lejeune’s belief that a “cure”’ for trisomy 21 is possible. In fact, he thought it would be easier than putting a man on the moon. I suppose that claim is for researchers and engineers in their respective disciplines to argue, but I’m sure these researchers would agree that we may be better fueled, but still on the launch pad in finding a “cure” for Down syndrome.
So, why should we want to find a cure for Down syndrome? Here are my three reasons:
Reason #1. Down syndrome is a neurodegenerative disorder. We have a 12-year-old son with Down syndrome who has changed our lives in incredible ways. My heart still melts every time I see a little baby with those beautiful eyes and soft floppy body. They are incredibly special people. What we tend to overlook in those early years, though, is the inevitable trajectory of gene overdosing on chromosome 21. Researchers in Down syndrome and Alzheimer’s disease are becoming good friends. Why, because the gene responsible for the development of beta amyloid, which causes the development of neurological plaques and tangles in those who suffer from Alzheimer’s, is on the 21st chromosome. Every one of our beautiful young children with an extra 21st chromosome will develop neurological similarities to those with Alzheimer’s disease by the time they are 40 years old.
A very legitimate concern we parents of children with Down syndrome have is who will care for them after we die. Intellectual disability impedes full independence, and the neurodegenerative effects of Down syndrome may prove devastating as our children age - at least with our current knowledge and standards of care. As a father, I encourage work being done by researchers such as Dr. William Mobley at the University of California, San Diego, and welcome attempts to develop a vaccine against beta amyloid such as one currently being explored by the Swiss pharmaceutical company AC Immune. These researchers are a parent’s hope that our children will have a long and healthy life in which their potential doesn’t prematurely peak, plateau, and decline, but rather continues to be realized throughout their lives – even after their parents die.
Reason #2. The vast majority of those who receive a prenatal diagnosis of Down syndrome choose to abort. The statistics are well known, so there is no need to repeat them. One of the factors the Natoli study confirmed in its 2012 attempt to accurately identify the rate of termination in the US, is that “higher termination rates were consistently associated with earlier gestational age. One study… reported that 93% of women at 16 weeks’ gestation or less chose to terminate the pregnancy versus 85% of those at 17 weeks’ or greater gestation. We now have non-invasive prenatal screening tests that claim to identify a Down syndrome pregnancy in a high-risk population with near 100% accuracy at 9 or 10 weeks - and that with a simple maternal blood test. This places a confirmed diagnosis well within the first trimester. We can surmise what earlier detection of trisomy 21 means for these children. The termination rate is likely to increase even more.
Abortion can never be a positive thing for any woman, but I propose that most who elect to abort a child with Down syndrome do so with tremendous regret. These are parents who desire a child and choose termination out of fear of disability, the belief that their child will suffer, or fear that they cannot care for a child with a disability. How much different would the abortion statistics be if at the same time a physician or genetic counselor delivered a prenatal diagnosis of trisomy 21, they could also deliver news of prenatal treatments and life-long therapies that would allow their child to be born healthy and develop normally with their peers. I am certain that the abortion statistic would radically reverse to a very small percentage of those diagnosed.
Medical treatments are never compulsory, but think of how many lives might be saved if parents are informed of their availability and they are making a life and death decision for their child. Jérôme Lejeune used to say, “The only way to save them is to cure them.” I think he was right!
Reason #3. Those living with Down syndrome are people too. Forgive me for this, but when I hear parents who have children with Down syndrome say they aren’t interested in a “cure”, or event research that will lead to treatments to improve cognition and their child’s quality of life, I wonder if they are considering the natural human desires of their child? As I write this there is a battle in the courts in Virginia in which a woman who has Down syndrome is fighting for her right to live an independent life. Her parents want her to remain in a group home. Jenny Hatch only wants what is natural for any individual – independence.
Those with an extra 21st chromosome are people too. Advocates have done tremendous work over the years to ensure a place in society for those with Down syndrome. Companies like Walgreens have done a tremendous job of providing meaningful employment for them. Some are even beginning to live with a high degree of independence, and even to marry. Imagine what even a small improvement in cognitive ability could do for those higher functioning individuals with Down syndrome who have a desire for independence, but can’t quite attain it. Imagine what that improvement might mean for those who are lower functioning. It could mean the difference between acquiring language or ever being able to communicate verbally.
Each of us only has to look within ourselves to understand the human spirit’s desire for independence, society and culture, meaningful employment, achievement, and intimate human relationships. What does it say about us if we acknowledge those desires within ourselves, and deny them to others when they might be within their grasp in just a few years’ time.
I want my son to have the opportunity to live life fully, and would welcome his freedom from the frustrations he now has in communication, and with the necessary restraints we place on his freedom. My son not only has Down syndrome, he is also a diabetic. He needs insulin injections several times a day. Insulin injections allow his body to metabolize sugar and thrive. Daily drug therapy to normalize gene function would be a means of correcting a defective metabolic function in the brain. One therapy is accepted, but the other feared because with it we face many unknowns. Therapies to improve cognition, memory, and speech are directed to the part of the body we most closely identify with our individual personality and being.
Truthfully, we don’t yet know what effect drugs to improve cognition will have on individuals with Down syndrome. In mice, all we can observe is an improvement in the ability to achieve tasks. There is no quality of life scale that researchers can apply to mice. Those who consent to participate in trials on drugs to regulate metabolic function in the brain of those with Down syndrome will be pioneers. What we do know is that a person is far more than their ability to reason through cognitive tasks. It is most likely that drugs will enhance an individual’s abilities and quality of life, but it is doubtful they will change who they fundamentally are.