June 15, 2011

Down Syndrome

Today, one of my good friends is having an intensive ultrasound to see if her baby has Down Syndrome. One of her earlier tests came back as positive, which meant that the baby had a 20% chance of having Down Syndrome. (how does 20% translate to a positive result?) Not very high, but a lot higher than the 1 in 1250 she should have.

As most of you know, Gilbert has partial trisomy 21. Pretty much, he has partial down syndrome. We were told this in October of last year, but didn't really discuss it with our geneticist until February when we learned he was only the 6th known person in the world to have it. Sounds bizarre, but there are probably a lot more people out there that have it.

When Gilbert was born, he had physical characteristics that made the doctor recommend testing for downs. Different NICU nurses had different opinions on whether he had it or not and told me so. I would take pictures of him and then spend the night at the Ronald McDonald house going through them, deciding how many he looked normal in and how many he looked Downs-y in. Like if somehow the ratio of pictures and positive nurses went in the right direction, we could influence the results of the test. Hey, I was a bundle of emotional postpartum hormones.

I tried to be accepting and realize how loved and loving people with down syndrome were--how much they had to offer the world. But all I could think of where the things he couldn't do. The subconscious plans that I didn't even know I was making for him that I would have to give up. I felt guilty for hoping so desperately the test would come back with only two little chromosomes on 21. I was a nervous wreck by the time the doctor came out to tell me the results. It was negative.  I didn't feel joy, I only felt relief, like we had been spared some dire fate.

Over the next couple months, different worries crept in. Why does he have so many characteristics of it if he doesn't have it? Could he have something worse? Meanwhile, I took hundreds of pictures and choose the one he looked the least downs in to send out in thank you notes or put on facebook. I didn't even realize I was editing my own child--like he had to look a certain way before I could show him to others. I can honestly say, that didn't affect my love of him--I adored him. But somehow, I felt if he didn't have down syndrome he shouldn't look it.

In February 2010, we discovered that the spasms he had had for a month, was actually West Syndrome, a rare neurological condition in babies 4-6 months old. It damages the neurons to such a degree that 70-90% of the babies who get it eventually have such severe mental retardation, they are institutionalized.

And it is more common and more mild in children with Down Syndrome.

Suddenly, Down Syndrome seemed like a piece of cake, an old friend that I could deal with. If it meant that his chance for a recovery would be increased, Downs was suddenly desirable.  I couldn't imagine our friendly, happy little Gilbert so neuron damaged that he would be unable to recognize me as his mother. I remember standing there in the hospital room while Gilbert slept, looking down 6 stories to see the world of Syracuse still going on. After calling family and friends to tell them what was going on, I just stood there, not thinking, not feeling. Just watching people go about their life. That night, I took Gilbert out of his hosptial approved crib and I let him sleep with me even though the nurse told me not to. And I held him close and I realized that with worrying about the spasms and all for the past month that I had been trying to protect myself by withdrawing a little from him, like that would somehow shield me from the pain if something happened to him. That night, I lay there with the light from the university clock shining in our room and I just held him. And I finally slept. All through the night, which was the first time in almost a month. I didn't realize until the next morning that he had never had a spasm during the night. And he never had another one.

We don't know what happened, why he stopped having spasms. Might be just pure luck. The neurologist said in 40 years, he had never seen that happen. When I called to have Gilbert retested before putting him on the incredibly strong and brain damaging drug (how is that for ironic?) the neurologist said it just doesn't happen. We could do another EEG if it would make me feel better, but the chaotic brain waves would still be present. But they weren't. He had a normal EEG.

For the next few months, I over analyzed every twitch and jerk. And we started thinking more and more about Down Syndrome. Why did that keep cropping up? Even in little things, constant colds/congestions, acid reflux. Researching those things, there was always a little line at the bottom or buried in the middle saying they were more common in children with Down Syndrome. But he had been tested, and how could DNA lie?

Finally in September we went back to the geneticist and asked what on earth. She did further, more sensitive testing to look for ANY abnormality in his DNA. And there it was. A tiny little extra half chromosome hanging out on 21.

Most people have their children tested at birth if Downs is suspected. If the result is negative, then the physical characteristics and any trouble learning, etc is just put down to the luck of the draw. But some of these people that are leading pretty normal lives, might have that itty bitty half chromosome too. And that is so encouraging to me.

So far, Gilbert is in the range of normal for everything. He is delayed in speech, but not severely. He doesn't display fear in situations in which he should (like with strangers, of the road, etc) and so Early Intervention has labeled him Special Education. But at this point, it is hard to separate what is just being a toddler, a boy, part of his personality, or part of having a little extra half chromosome. So we just wait and see.

Down Syndrome is major. Anyone who acts like it is wonderful and that parents should be happy about it, is either forgetful, clueless, or completely out of touch with reality. Kids with Down Syndrome have so much to offer us, but their life is not easy and it isn't always easy on the parents.  I can sympathize with those who are terrified at the prospect of raising a Down Syndrome child. While Gilbert's DNA was being sorted I just kept thinking I wasn't a good enough person to have a Down Syndrome child--I didn't have the patience, the selflessness, the courage to flaunt that societal perfection.  When I told people about Gilbert's diagnosis, one of my cousins said "well he understands the things that matter." And that is just it. People with Down Syndrome don't have the facade that we do. We can sort of control our image by showing different depths of emotion, passion, interest to different people. That is civilized behavior. People with Down Syndrome wear their enthusiasms and emotions on their sleeve, which is what makes them so endearing. They retain so much of the childish honesty that they can be disturbing to us when we are used to people who are carefully blase about everything.

According to some studies, up to 90% of pregnancies with positive Down Syndrome diagnosises end in termination. This means that fewer people with Down Syndrome are born per capita, fewer people ever come in contact with someone with Down Syndrome in their well-ordered lives. Our culture has such an obsessive affair with perfection that people are even starting to start fetuses in a lab so they can choose which sex of child they want. How could Downs babies even have a chance against demands for perfection like that?

I had never given disabilities much thought before this. I wasn't always comfortable around handicapped people, but they didn't freak me out. Looking back on my initial reaction to the possibility of Downs and my almost shame at Gilbert looking like he had Downs, I know that I have at least had  subconscious thoughts that handicapped kids were for other people. My kids are meant to be perfect--cute, well-mannered, and intelligent. But they aren't. They are generally sweet, mostly loving, occasionally well-mannered, and fairly intelligent. They probably won't be star athletes, they (hopefully!) won't have Ivy League ambitions, and they more than likely won't be president someday (EEK!) And that is okay.

I would like to think I am wiser now. That if I discovered I carreid a baby with Down Syndrome that it wouldn't bother me. But I don't know. How can you know until you are in that situation?

When my friend called to talk about Down Syndrome, I cried. I knew what she was facing, the worry, the fear of what this means, the hope that it isn't Downs, the shame at that hope, the guilt of wanting to be able to change things, the guilt of just wanting what you were expecting--a "normal" child. No matter how prepared you are, no matter how wise and non-perfection seeking you think you are, having a child with a handicap, challenges all parts of you, your personality, your family, and your life. And it isn't always easy. Getting to know a few of the people in the Franklin County Down Syndrome Society and their families, I can safely say it is worth it. Really and truly, even though you hear it all the time, they are very, very special people. Once that initial shock wears off, once you get to know your own baby, the wanting to change the situation fades. Sometimes you might still mourn that imaginary child, but you realize there is so much that is precious in the one you have.

I don't want you all to think that we have been through any of this to the extent of people who have children with much more severe handicaps than Gilbert has. Going through even a lesser part of it has really forced me to come to terms with my own fears and worries about handicaps. And as often as you hear it, there is a lot we can learn about life and ourselves from those who are different. Like that post Nina put up about getting into the nitty gritty of life and not just skimming the surface. Like me trying to keep myself back from pain by withdrawing ever so slightly from Gilbert when we didn't know what was wrong with him last winter. We can't just live on the surface. Sooner or later something comes a long to sink us and once the pain has cleared, there is a whole world to gain.  And that new world of knowledge or perspective or wisdom or love is probably worth the pain.

I am starting to sound high faluting and metaphorical, so I better stop writing before I start wondering what on earth I am talking about.


Anonymous said...

Wow! You covered a long process of wondering and worrying. Having met Gilbert, I feel positive about his developmental progress. But I am his great-aunt, not his mother. As a mother, I worried about teething, ear infections, speech delays, everything and always you wonder if this child will grow up and, if so, if he/she will have a good life. This wondering and worrying never stops even if your child is "normal". Gilbert is blessed to be born into a family that will love him even if he doesn't get accepted at Harvard. He has a beautiful personality and he has enriched many lives already. Hopie

Evan and Clover and Co. said...

Mr. Gilbert is so well-loved, no matter what challenges he faces, he will do it with an army of well-wishers arrayed around him! Thinking back to that horrible February, it sure is nice to see him grinning in triumph as he has made it up to the top of the table (again!). And, hey, not many people can say they have a child that is one in a million, but you have a child that is one in a BILLION!! :-)

Verity Earl said...

This is so beautiful. You should be a writer. Or at least submit this to be published. I'm not joking. I know good writing when I see it.

I love you a lot. Mr. Gilbert is pretty great, and we are all lucky to have him! xoxo

Anonymous said...

Loved reading your blog Bethany!! What a wonderful little boy and amazing parents!

Rebekah said...

Hearty agreement with others at this beautiful essay. Thank you for sharing your perspective and feelings with us.

Virginia said...

Beautiful, beautiful, beautiful. In a very sad/stirring/hopeful way. I very much second Verity by saying you're an excellent writer, even though I'm not as qualified as she is about this sort of thing. I just know what touches my soul and this does that. I have tons to say, but it's not really comment material. I need to come up soon and do some serious visiting! I love you, I love Gilbert, and I love this blog.

Lisa said...

What's on the inside is what counts, and you are also a good mommy. Love you both!