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.

* * * * *

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,

epilepsy,

gastrointestinal malformations,

hypothyroidism,

leukemia,

spinal cord compression,

increased risk for infection,

and infertility.


From www.fetal.com
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.

Baby Book Blahs, a Pity Party for One...

EDITOR'S NOTE: This post originally appeared on My Holland, My Italy on June 5, 2008. 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.

* * * * *

I tried to write a few things about what Vinnie is doing now, cooing and such, in his baby book. I guess I haven't written in it since the day after he was born. Basically it has some stuff from when I was pregnant like "My dreams and hopes for you are..." and it also has the date he was born with the weight and height. So I tried to fill in some other stuff but got really pissed. "My thought when you were born were..." I thought "Wow, you have Down syndrome". I could go on with the list of things it wanted me to fill in and I have two books for him so it's double but I will just say most of the answers were "Down syndrome". I wasn't all upset about it when he was born. I knew the moment I looked at him and I was fine with it. So it wasn't a bad thing but I don't want to put that in his book.

So by now you are saying "write what you felt second, after the Down syndrome stuff". I couldn't, I got caught up in my own little pity party. Then I had HORRIBLE feelings that I am ashamed of "he won't ever read it, so why bother". What a scumbag mom!

But on a happier note I did read the "My dreams and hopes for you" section that I had filled in when I was pregnant. I am happy to report that my hopes and dreams haven't changed much. Basically I said I wanted him to be happy, no matter what he does in life just be happy (I remember my dad once told me that if I wanted to be a garbage woman he was ok with that as long as I was happy. That was probably the only thing I remember him saying, well, only good thing). Treat others with respect and if he chose to have children give them unconditional love (this was a little hard on me since they say that males with Ds can not reproduce...no mini Vinnie's).


Now that I have caused most of my family and possibly some of my new "Ds" family a little concern I will sign off. I am ok, I just needed a little vent. No need to check in on me.

Mama Bear, Mama Bear, What Do You See?

EDITOR'S NOTE: This post originally appeared on Down Syndrome New Mama on September 7, 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.

* * * * *

Just as newborn babies of differing nationalities or races have visible distinguishing features, so do babies with Down syndrome. While babies with Down syndrome do share some unique features, they mostly look like their biological parents and other family members. All babies are different and not every baby will have all or even most of the physical characteristics described below.

Babies with Down syndrome have very delicate facial features (which have no negative effect on your baby’s senses or intelligence.) You will find that your baby’s features are very proportionate.

Head: your baby may have a marginally smaller head circumference. This size difference is hardly noticeable and you may not even see it or realize it until your pediatrician measures him and marks his growth chart. The back of your baby’s neck may be chunky but this disappears with age. The back of your baby’s head may be a bit less rounded than the average newborn.

Nose: your baby may have a cute button nose with a softly contoured nasal bridge. This smoothness lends itself to a slightly more broad facial appearance.

Eyes: your baby’s eyes may turn gently upward at the outer edge. His actual eyes will be the same size as any other baby but may give the illusion of being beautifully enhanced if your baby has sparkling brushfield spots. Your baby’s eyes may also have small crinkles at the inner corner called epicanthal folds.

Mouth: your baby may have a little rosebud mouth. A smaller mouth may give the illusion that an average sized tongue is bigger than it actually is, (though the jury is still out on whether some children with Ds do have more ample tongues.)

Ears: babies with Ds are graced with petite ears that may or may not have a slight curve at the top. Sometimes baby’s ears are set a little further down on his head though this is hardly noticeable.

Hands: some babies with Ds have a single line on their palms called a transverse palmar crease. This crease occurs in more than 3 percent of the general population.Your baby’s hands may be smaller and his fingers maybe shorter than average. This does not interfere with a baby’s gross or fine motor skills.

Feet: some babies have a small space between their first and second toes which is often accompanied by a vertical crease on the sole at this spot.

Chest: your baby’s chest may appear slightly bowed out or slightly depressed. This minor difference in shape has no negative effect on your baby.

Skin and hair: you may find yourself with a fair-skinned baby who has lighter colored hair than yours. Some babies have very fine soft hair that may be thin in spots. These thinner spots should fill in as your baby grows.

Muscle tone: many babies with Ds have low muscle tone. While this has no bearing on how your baby looks, you will notice that your baby is a bit floppy with an amazing level of flexibility.

So, mama bear, mama bear, what do you see? I see an adorable baby looking at me.