Sunday, June 23, 2013

Mae started speech on Tuesday. It went well, though, M, her therapist, did not make sufficient hay of the fact that Mariana no longer takes a bottle, has improved oral motor skills and has added the word, "Dada" to her words. M is not the touchy-feely-excited type, but she's good at her job, so I can't complain as much as I would like.

We did get the speech insurance evaluation after her therapy. I'm not going to lie, seeing on paper that Mariana is at a 3-6 month level of development in some areas was really difficult. But, as Scott pointed out, Molly said no words until 17 months. That eval was Mae on that day, that moment. No, she didn't verbally interact with her environment, but it was new and different. Paul didn't verbally interact with his environment the first day of school, so no big difference. And besides, we didn't want a positive report because insurance would have denied the claim! It's funny how your brain can acknowledge the truth, but your heart will lie right to your face.

June 13th was Dr. Jerome Lejeune's birthday. He is Mariana's chosen patron saint. (Along with Mary and St. Ann.) If you don't already know, he was the geneticist who discovered that Down syndrome was caused by the existence of 3 of the 21st chromosome. Usually the chromosomes, numbered 1-23, are in pairs. That is why Down syndrome is also called Trisomy 21.

I reflect often on Dr. Lejeune because his discovery led to a lot of conflict for him. He knew, seemingly from the beginning, that ability to identify Trisomy 21 would lead to the extermination of children in the womb. He fought the rest of his career against this, which is why I love him so much. He was brave and he stood up to his colleagues. It's quite fashionable, and was in his day, to reduce humanity to computations, but Dr. Lejeune wouldn't have that.

There is another reason I am grateful to Dr. Lejeune; I am grateful he made his discovery of what causes Down syndrome because it gives our family a solid answer.

Molly has an inflammatory disorder. There is no medical diagnosis for her condition, and we spent years trying to help her. We believe we've found an answer in nutrition, but there is no guarantee that what we are doing is everything she needs. We are at peace, in a way, but there is that nagging reality that there is no name for her condition, there is no diagnosis and there is no way to know if all we are doing is all we can do.

On the other hand, there is Mariana, who has a diagnosis. There are years of research on how to help her. There are years of parent-advocates who have demanded equal opportunity for their children. Scott and I have it so easy because of this diagnosis and these parents who came before us. We have only admiration and respect and gratitude for each of them.

Prenatal diagnosis is a hot topic in the Ds circles. Though we chose against it, and are pleased with our choice, I just can't come down on the side of saying it's wrong. I also can not say that information is neutral. The information we have because of Dr. Lejeune has brought so much peace to us. Given that Mae defied so many odds in the early months, we sometimes doubted her diagnosis. A photo of her chromosomes reminded us of the facts. We can know so much more because of Dr. Lejeune and we can accept and reject things based on facts, not assumptions. The fact is, having a child with Down syndrome will change your life. The fact is, your child will need intervention regardless of how the syndrome effects him. The fact is, your child with Down syndrome will have an extra chromosome. But the rest of the story is up to you. Your love, your willingness to be loved, your desire to be your best self, all of that can make you realize that your child with Down syndrome as valuable as the rest of humanity. Dr. Lejeune gave us a gift of truth, and he fought for us to realize the beautiful potential in our kids. His discovery is a gift to my family, and to all of us who love people who have Down syndrome.

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