Sunday, January 10, 2010

Doctor or Dinosaur?

EDITOR'S NOTE: This post originally appeared on Yo Mamma Mamma on October 4, 2009. It is reproduced here with the author's permission. Click here to see this post in its original context (which may include accompanying photos), to view existing comments and to leave a comment of your own.

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If you were a pregnant mother, and had been told your child screened positive for Down syndrome, and your fancy doctor who was going to be doing your ultrasound showed you a slide with this information on his web site, what would you think?

What are the problems with a child or adult with Down syndrome? Unfortunately, there are many. These include

mental retardation,

growth retardation,

early onset of Alzheimer’s disease,

congenital heart defects,

hearing loss,

eye disorders,


gastrointestinal malformations,



spinal cord compression,

increased risk for infection,

and infertility.

You can see the slide if you click on the link in the center of the page that says "1rst trimester screening for Down Syndrome" and then look at the 6th slide

I wish all of us could have a list like this of the problems with being human. We all are predisposed to possible "issues." Some of us will get cancer at a higher rate, some have heart issues. Some of us are drug addicts, or alcohol addicts. Some have flat feet. If you totalled up everything that you might have, or your husband might have, or your typical children might have, and saw a list, you would live in fear.

In our case, so far, Violette has been quite healthy. She has a congenital heart defect, but it is minor. Thing about people with Down syndrome is that while "congenital heart defect" sounds frightening, where medicine is today, the type of heart defects typical of people with DS are usually treatable, and kids with DS do very very well after the surgery. Violette hasn't needed heart surgery, and if she does, it will be a minor procedure (believe it or not) where they will run something up her leg, and she'll be done.

Violette may have a "gastrointesinal malformation." She takes reflux medication every morning and every afternoon - a half a teaspoon full of zantac. No biggie if you stay on top of it. If you don't treat it, it can lead to serious issues. But we treat it, and she should be in good shape. (Her maternal grandmother has been taking meds like Zantac for the last 20 years for her "gastorintesinal malformation" and we all think she's more than OK.)

Other than that, right now she has bad eyes - like her mother and her father (and her grandparents and her cousins and her uncles.) And she'll be getting glasses.

This doctor irks me. I can't lie. If this slide was followed up with something about what life can be like for people with Down syndrome, a point to the quality of life of the family or a reference to learning more about DS from an organization that specializes in it (there are 5 clinics for DS in California, and several excellent parent support groups) I'd have more respect for what this doctor is trying to do. Why, for instance, didn't he comment on the fact that people with DS are less likly to get solid tumor cancers?

Doctors giving only one part of the story about Down syndrome should soon become the dinosaurs that they are. There is a new law, Public Law No: 110-374 is called the Prenatally and Postnatally Diagnosed Conditions Awareness Act.

It is the purpose of this Act to--

(1) increase patient referrals to providers of key support services for women who have received a positive diagnosis for Down syndrome, or other prenatally or postnatally diagnosed conditions, as well as to provide up-to-date information on the range of outcomes for individuals living with the diagnosed condition, including physical, developmental, educational, and psychosocial outcomes;

(2) strengthen existing networks of support through the Centers for Disease Control and Prevention, the Health Resources and Services Administration, and other patient and provider outreach programs; and

(3) ensure that patients receive up-to-date, evidence-based information about the accuracy of the test.

As for me, I don't spend a whole lot of time worried about Violette's health. Monitor it closely, yes, but worry about it, not so much. I feel she is here, with us for a reason. I want to enjoy living with her silly little self and not waste time worried about what might be. The list above is merely what is possible - not a definitive list of what is going to happen. It would have been nice if the doctor had pointed that out.