The ‘Down syndrome disconnect’: An open letter to medical professionals and expectant parents

Letter to the editor by Katie Bee of forelysium.wordpress.com.

Newly pregnant with my fourth, I sat with the developmental pediatrician discussing my oldest child. As my younger son with Down syndrome squirmed on my lap, I told the doctor my pregnancy news. Without even desultory congratulations she asked, “You’re getting the [genetic] testing?” I fumbled through an explanation. “Maybe, I don’t know. I haven’t decided yet.” She looked at me with concern and said, “You don’t need another child with special needs.”

After my stunned silence of a few beats, I informed her that before I became pregnant, I had considered adopting a second child with Down syndrome. “Huh,” was her response.

Did that doctor’s personal opinion of children with disabilities influence her unsolicited advice? Evidently. If I didn’t “need” another child with special needs, what would she have advised me to do with the life growing within me?

Doctors are trained to be prepared for almost anything, medically speaking. One area of knowledge that often lacks relates to people with disabilities. Medical professionals have shockingly little training about Down syndrome in particular. In terms of counsel for prenatal genetic disorders, the effect of medical professionals’ preconceived notions of disability can make the difference between life and death.

Spend a little time on message boards for women who terminated for Down syndrome (T21) and you will see some recurring themes. The women are unsure. They question their decision to terminate and the advice they were given by doctors and genetic counselors.  In a recent search on Babycenter.com, I discovered a post where women discussed the “disconnect” they experienced between what their doctors told them about Down syndrome and what they repeatedly observed about Down syndrome in the media, in their communities, and online.

One commented, “But sometimes I do wonder why there isn’t a solid research document that says what the doctors are telling us? That statistically the DS cases we see are the minority?? It is hard to prove anything when the only published data seems to support that DS is wonderful and compatible with life. I know there is rhetoric that it’s to get funding or whatever, but there should be the same medical documentation available that supports the statistics that we are all told at the doctors.”

Not one was willing to admit that the information they had been provided was indeed incorrect. The “statistics” themselves were reportedly grim. Most had the tone of one mother’s contribution: “We made the decision based on the information our doctor gave us.  He told us that 95% of T21 [diagnoses] are terminated, and DS kids you see functioning are the one percenters.  The rest end up in hospitals and group homes.”

Not just the doctors involved, but the genetic counselors also made an impact for these women. One contributed, “My genetic counselor told me that the kids you see out and about are about 10% of the T21 population.  She told me she worked with T21 kids who would just sit there, totally unresponsive. Many people with T21 exhibit horrible behavioral patterns: throwing fits, even getting violent. Maybe not the majority, but quite a lot, according to my counselor, who is pretty knowledgeable about T21.”

There are at least as many caring, wonderful doctors and genetic counselors as ones whose personal prejudices influence their counseling. However, all of the women in that post talked about how they terminated their much-wanted pregnancies, most due to the advice they had been given about Down syndrome.

The aftermath is heartbreaking. The women report seeing “high-functioning” people with Down syndrome in public and believe that those people represent a tiny minority. They conclude that all the rest of the people with Down syndrome in the world are sitting unresponsive in institutions or in their homes.

They carry the burden of their pain believing that they spared their child from a lifetime of it.

Tragically, the prejudices against babies with Down syndrome are mostly unfounded and generally untrue.

My son Kyle is an average child with Down syndrome. He has some of the associated medical conditions: hypothyroidism, glasses, one small heart defect (bicuspid aortic valve), and low tone. He also was born with bilateral clubfoot (not related to DS). He has had two surgeries in his life: tendon transfer and T&A. There are no additional surgeries on the horizon.

Developmentally, his scattered skills fall at around half his chronological age. He is four and a half and goes to school with his typical peers. He walks but doesn’t run. He has delayed speech but continues to add to his few hundred spoken words. He knows all the letters and numbers to 15. He has shown his ability to learn just as my other children do; however each skill has developed at a slower rate. He has the capacity to continue learning.

My son is not in a very small minority of children with Down syndrome who are “out and about,” as the women on Babycenter.com would have thought. There are thousands of children just like Kyle born in the United States every year. I have come in contact with hundreds of children with Down syndrome, and none are vastly different from Kyle. In fact, it often seems that a large number of them are developing even more skills than he has at a similar age.

The families blessed by Down syndrome are largely happy, and parents recognize how Down syndrome enriches their lives and relationships. I am lucky enough to have other children as well. They are typically developing. Because I know how fleeting their childhoods are, I realize that the longer amount of time Kyle takes to learn skills gives me the gift of experiencing his developmental stages more fully as a parent.

Make no mistake, I am not a Pollyanna who can’t see past the nose on my face. I am realistic and know that my life will always be more challenging because of Kyle. I also believe it is in life’s hurdles that we experience the most joy and satisfaction. Kyle’s siblings may need to be responsible for him later in life. I have met many people who take care of a sibling with Down syndrome. All have spoken highly of the experience and how it adds value to their lives.

Kyle’s future is not scripted by any historically “true” perceptions of Down syndrome. Decades from now, the technologies and advantages of our time will be evident in the successes of people with Down syndrome. I hope it does not take that long for people’s perceptions to change.

In the meantime, it is you medical professionals who are on the front lines when parents make a decision to keep or terminate a Down syndrome pregnancy.

Please do all you can to further your knowledge of Down syndrome, starting with visiting http://brighter-tomorrows.org/ to complete a tutorial on delivering a Down syndrome diagnosis. A short, free webinar by Dr. Brian Skotko, a key Down syndrome researcher, is available at www.phscpd.org.Lastly, The National Down Syndrome Society at http://www.ndss.org features informative videos, research papers, and webinars that are beneficial to health providers.

Medical professionals are trained not to let their personal prejudices influence their counsel, but we are all human. The critical issue is that Down syndrome must be represented accurately to prospective parents, reflecting the constant advances made in education and therapy that continue to enhance the potential of people with disabilities. People with Down syndrome have value not only to their families, but to the world.