Sunday, October 4, 2009

31 for 21 - Doctor or Dinosaur?

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.


Karen said...

wow-a number of things disturb me about this video Melissa. First off-his purpose upon raising the detection rate for Ds and the other "birth defects" listed is what? Termination? He never really says-at least in the almost 17 minutes of this video.
I can imagine most of the patients don't digest alot of this information-especially if they're watching this video directly prior to having the test. The heart information seemed a bit much! I've heard heard all that-and Caleb has a heart defect!
Why are the future screenings paid for by the state, if positive?
Pretty disturbing overall, although I can't disagree with the information presented. There does need to be a balance of the "positive" side though-is that ever given do you know?
I agree-this Doc needs to spend some time with our kids and see what today's reality is-not the gloom and doom he presents in that slide.

Anonymous said...

My doc tried to scare me with the crazy mess. He told me my Aubry might hold a low level job like working in a groccery store or a fast food joint. I work in a grocery store, and Aubry's dad works at a fast food joint. Should we be terminated because thats the kind of jobs we like? I told him thats where her parents work so she will keep on with family tradition either way. Or she might just want to do something different. I also told him if we start "selectively" terminating pregnancies because of DS we might as well move along to the ugly people who are pregnant(beauty is in the eye of the beholder mind you), or move along to people who have the genetic marker in their blood like I had and ask them to terminate because their baby might have a disability.wait.... correctible disabilty. DS is not a death sentence. I feel lucky to know the people I know now. All the beautiful children with DS too. Yo mamma, here is a statement that really puzzles me.... " she doesnt even look like she has down syndrome" LOL Yes she does!! She is so beautiful, and unique. How dare you for saying she is ordinary. I have a 3 1/2 month old daughter Aubry, and she has down syndrome. I also have a 4 year old son Julian who has PDD. My daughter Ashley suffers from being a misunderstood teenager LOL.

Lisa said...

Did you notice that our posts are one after the other on Dan's blog? I remember the first email which introduced you and Violette to us. I remember the long emails which followed in the subsequent few days, and knowing at the time that you all would be just fine.

This is a great post. I read it last fall, but it got burried in all the awesome posts of 31 for 21. I am so glad it was featured on TPFFDSBB so I could find it again and absorb it.

Lisa said...

this is a great post! although it still amazes me that medical professionals say things like this while delivering a diagnosis (by the way, the worst one I ever heard was a doc show said "you baby will have the IQ of a potato"), it still doesn't surprise me. I hope one day all of our advocacy will result in slides like this (and docs like this!) being so rare that if they do say something like this there will be total outrage.