Dancers Anonymous > Rett syndrome

Discussion in 'Dancers Anonymous' started by cornutt, Mar 27, 2009.

  1. cornutt

    cornutt Well-Known Member

    Some of you here may recall that I've written previously about our grandson. Since he was about 2, he has generally been diagnosed as autistic, with severe learning disabilities (he has never learned to speak) and lack of coordination. Over the past three years he has also developed symptoms which appeared to cerebal palsy. Whereas once he could walk, albiet awkwardly, he no longer can; he's confined to a wheelchair. His head has to be braced because his neck cannot support the head weight. And at about the same time this started, he began having severe seizures.

    Well, after a recent round of genetic testing, it turns out that he has neither autism nor cerebal palsy. It's something called Rett syndrome. I've been doing some reading today, and it's a genetic problem that prevents brain cells from developing due to the inability to synthesize an important protein. The typical progress of the disease fits our case: unnoticed until about 18 months, at which point delayed development is noted. Still, there is progress for a while, but then later in childhood symptoms worsen and previously acquired skills (like the ability to walk) are lost. It's the regression that makes it particularly devestating. The neural system just progressively shuts down. In fact, there are documented cases of Rett victims whose eventual death came about because their brain stems just quit functioning.

    Because it's a defect of the X chromosome, incidences of Rett syndrome are confined almost entirely to females. In males, usually damage to the neurological system is so severe that male fetuses with Rett seldom survive to term. In fact, it appears that there may be fewer than 5,000 known cases in the world of Rett in males born alive since the syndrome was identified. Because of the lack of male survivors, there has been almost no research done on Rett in males. So we don't have much of a road map to go by in terms of the grandson's future prospects.

    Well, at least we have identified the real root cause now. At this time, there is no treatment or therapy for Rett syndrome. There is some animal research that seems encouraging; the work suggests that the neural cells that have been effected by the syndrome have not died or atrophied, but are simply holding in an inmature, dormant state. The reserach suggests that if the missing protein can be infused from an external source, the cells may develop and begin to function normally. Apparently, it's a tricky bit, because the same treatment can kill the cells that did develop normally. The trick is to find some method of delivery that can distinguish and only deliver the protein to the undeveloped cells.

    Anyway... thanks to everyone who has previously expressed concern. I thought I'd pass this info along.
  2. chachachacat

    chachachacat Well-Known Member

    Sorry to hear about your grandson.
  3. gracie

    gracie Active Member

    So sorry. Thanks for this info, perhaps it will help another.
  4. fascination

    fascination Site Moderator Staff Member

    nothing harder than watching an innocent person survive a mysterious prayers and thanksgiving for your strength and grace truly are an exceptional big-hearted man
  5. wooh

    wooh Well-Known Member

    Glad they finally identified the cause at least. It's incredibly frustrating for it to be a mystery (said as the sister of a person with a still undiagnosed after 30 years problem). Here's to hoping that the diagnosis will if not lead to a cure, at least lead to treatment to make him more comfortable. Hugs and prayers for your grandson and the whole family.
  6. DancingJools

    DancingJools Member

    Cornutt, my heart goes to you and your family. You may already know this, but the "Dancing A La Carte" competition, held in Springfield, MA in late May, is dedicated to Rett Syndrome. One of the comp organizers is Jean-Marc Genereux (and his wife, France Mousseau), whose child has Rett Syndrome. They have been very active in raising awareness about it, and raising funds for the International Rett Syndrome Foundation.
    If you go to the comp's website (obvious URL), there is a link to a page on Rett Syndrome.
  7. cornutt

    cornutt Well-Known Member

    I was going through some old threads that I had posted to, and I came across this one. I figured I should post an update.

    Our grandson died last March 9. He was 12 years old. The Rett syndrome had pretty much shut down every voluntary muscle in his body; he could no longer hold his head up or move his mouth to eat (he was being fed via a tube). His lungs were also failing congestively and he was on oxygen. At some point during the night, his heart apparently gave up. He was staying at the maternal grandmother's house. She said she had checked on him at 3 AM and he was OK then; when her alarm clock went off at 5:30, she went to check again and his body was already cold. He is buried in a family cemetery, next to a young military man who was killed in Afghanistan last year. After the service, us pallbearers got out shovels and we covered the grave ourselves.
  8. fascination

    fascination Site Moderator Staff Member belated deepest sympathies....none of us ever expects to bur our children or our grandchildren....I have buried an infant child who only lived a brief time and it was debilitating.. and now that I am a grandma, I know that it would fair to tear my heart out of my chest if anything where ever to happen to that little deepest condolences
  9. madmaximus

    madmaximus Well-Known Member

    My deepest condolences Cornutt.

    For the loss of a child, I know that there are no words that could possibly give solace and balm.

    I sincerely hope that there will be something positive that will rise from this difficult event for you and those involved.

  10. SDsalsaguy

    SDsalsaguy Administrator Staff Member

    I don't have the words to adequately express my condolences cornutt. Please just know that my deepest sympathies are with you and your family.
  11. Ice Bucket

    Ice Bucket Member

    So sorry to hear this, mate. I can't begin to imagine what you and your family are going through. Love and strength to all of you.
  12. pygmalion

    pygmalion Well-Known Member

    I'm so sorry, cornutt. I know you mentioned this in passing, in the YA thread, when your son had the emergency room visit (How is your son, btw?) I noticed it, but didn't know if you wanted to talk about it.

    I don't know that there are any words that can bring solace. I know I don't have any words that seem anywhere near enough. So I will just pray that you and your family find peace and, eventually, joy in the memory of your grandson.

  13. cornutt

    cornutt Well-Known Member

    Thank you, everybody. And yes, our son is much better. He still doesn't remember very much of that day prior to the CAT scan, but the rest of his memory is fine now.

    The thing with the grandson was that we knew the day was coming... we just weren't sure when. The doctors from the University of Alabama-Birmingham who were tracking his case weren't really sure how he had lived as long as he did. But he had gotten steadily worse over the past year, and for the past three month or so before he died, he was almost totally unresponsive to stimuli. So the poor little guy is finally out of his misery.

    The thing that makes me the saddest is that the poor little guy never got to do very many of the normal little-boy things. I remember one time when he was in a walker and we played "drag race" up and down the driveway. He had so much fun! Unfortunately, his period of being ambulatory only lasted about a year.
  14. wooh

    wooh Well-Known Member

    So sorry to hear this cornutt. My prayers and thoughts are with you and your family.
  15. cornutt

    cornutt Well-Known Member

    Wooh, thank you.
  16. bordertangoman

    bordertangoman Well-Known Member mane padme hum
  17. ChaChaMama

    ChaChaMama Well-Known Member

    So sorry for your loss.
  18. cornutt

    cornutt Well-Known Member

    Thank you both.

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