A One in a Million Boy

 

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AJ with Katelin at the 2016 Conference. AJ has CDKL5 (without Klinefelter’s syndrome), an atypical form of Rett syndrome.

Rett syndrome affects 1:10,000-15,000 females. You hear all kinds of statistics about girls; almost all literature has only the pronouns “she” and “her”.  Even doctors will talk in terms of only girls. Trials are only compiled of girls. But, in the midst of all that, a small, but incredible population is being left out- the boys.

Boys, I was always told, die in utero or in early infancy; that was what I believed until I met a miracle boy, named Thomas. All told, I’ve met three boys with Rett syndrome. Three. Their parents must feel SO alone, left out among all the girl t-shirts and princess caps. But, these boys are special. They have beat the odds like nobody’s business. They are among the rarest of people. There are a few known variants of Rett syndrome in boys, like CDKL5, but Boys with Rett syndrome , who have the MecP2 mutation, survive only because they also have Klinefelter’s syndrome. I often wonder how parents feel… their child survived only because he was going to be disabled anyway.

While the most common variant of Klinefelter’s syndrome affects 1:500-1,000 boys there are other variants that occur in 1:50,000. Imagine then the astronomical chances of that 1:50,000 having Rett syndrome as well.

I can’t imagine being in such a small circle, it often feels like just having a girl with Rett syndrome is being in a small circle, but it does not compare to being a parent of a boy. Not only do they most likely have to search longer for answers, because a boy with Rett syndrome doesn’t come to mind as quickly as a girl, and for a girl it can take a long time, but once finding the answer, having to contend with being outsiders in the predominately female world of Rett.

Even when I write blogs or posts I have to remind myself to say “boy”, “he”, “brother”, “son”; so, today I want to raise awareness of the boys with Rett syndrome; the one in a million boy. They are out there and deserve recognition and maybe it will help their parents have to fight one less battle of acceptance.

 

 

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This entry was posted in boys with Rett syndrome, Klinefelter's syndrome, Rett Syndrome, Rett syndrome conference 2016, Trail to a Texas Trial, Uncategorized and tagged , , , , . Bookmark the permalink.

6 Responses to A One in a Million Boy

  1. kelly mirolli says:

    My son has retts

  2. melelllan says:

    I hope that he is well, I bet he’s as sweet as anything. xo

  3. Kris Olson says:

    My son passed away 14 months ago. He had Rett Syndrome, 1164_1207delMutation. He also did not have Klinefelter’s. I adopted him when he was a toddler and he was diagnosed at age 19. We eventually found out that his was the very rare inherited kind. His mother was a carrier, sister had the deletion and was mildly affected. His niece (sister’s daughter) has classic Rett Syndrome, and his nephew, who passed away 2 years ago at age 14, was severely affected.

  4. Tonya Hanna says:

    I miscarried a son. The geneticist told us he had klinefelters, however when we went to the office for a foloow up they told us they were mistaken and that he had triplody. Which he had xxy. I often wonder if he may have had Rett as well.

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