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Wednesday, June 2, 2010

What is Rett Syndrome?


From Wikipedia:
is a neurodevelopmental disorder affecting gray matter. The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some). Repetitive hand movements such as mouthing or wringing are also noted. Girls with Rett's Disorder are prone to gastrointestinal disorders and up to 80% have seizures. They typically have no verbal skills, and about 50% of females are not ambulatory. Scoliosis, growth failure, and constipation are very common and can be problematic.

The signs of this disorder are most easily confused with those of Angelman syndrome, cerebral palsy and autism.


Rett syndrome is a severe, genetic disorder that affects the way the brain develops. Occurring almost exclusively in girls, Rett syndrome produces symptoms similar to those of autism.
Most babies with Rett syndrome develop normally at first, but their progress often slows by the time they reach 18 months of age. Over time, children with Rett syndrome have increasing problems with motor function that may affect their ability to use their hands, speak, walk, chew and even breathe.

The above is all true. It gives you symptoms of Rett Syndrome. The definition, even clinical description, can't convey what Rett Syndrome is all about.

 My girl, Campbell, was born October 31st, at 11:53PM in 2007. She had problems from the start with her oxygen conversion. It was scary seeing my child have her hands lifted up, and dropped lifelessly. Then came the tubes. 11 days in the hospital, and then she was ready to come home.

She was a very content child. She was always happy, unless she needed food/drink/nap/changing. A very exuberant girl. She had quite the personality.

After a few months, we started noticing she wasn't hitting any of her developmental milestones, like rolling over, crawling, walking, socializing. For the first few months, we weren't concerned. Her overall health was good, and she was happy. Then the time came, a point of no return, when we were forced to acknowledge something was wrong. Not knowing what it might be or what it could mean puts some unpleasant thoughts in your head, let me tell you.

Her mother made an appointment with a doctor to get a genetic test done. Lo and behold, The results came back - R270X mutation: A form of Rett Syndrome. This is the exact moment the world changed forever.

All of a sudden, one gets to know one's self. There were tears, not because of anything that happened to me, I wept thinking of what it would be like for her. I've always wanted her to have every opportunity in the world. There were some selfish thoughts, too. I looked at her and she's smile, and part of me took comfort that this precious little girl would always need her daddy.

She was enrolled in physical and occupational therapies right away. After two months, she was able to hold herself up on all fours - "quadruped position". I didn't expect it, but I certainly didn't expect what happened next. This is one of those moments you wish your whole life you had a video camera handy. I had just that. Watch her - again, she had never so much been on all fours on her own before. Always sitting or laying down.

She was able to stand on her knees! reading the definitions above, knowing 50% of these girls are non-ambulatory, for her to make such progress so quickly, and to be in such good spirits throughout,  it was a ray of hope that nothing could dim. The look of delight on her face was certainly contagious that day.

Developmental and speech therapies were soon added. At home, we also were able to get in-home habilitation specialists to work on therapy goals, and keep things consistant.

Rett Syndrome is a condition in which the protein that forms around synapses in the brain to protect and solidify them isn't produced properly. This lack of MeCP-2 keeps the brain in an immature state. We know how to move our hands, feet, arms, legs and whatnot, because the use of the muscles makes a connection in the brain. The more we use the same muscles the stronger the connection gets. The MeCP-2 protein covers this connection, to keep the connection in place, so we don't have to consciously think about how to move each individual muscle any time we move. The use of the muscles is learned. In Rett Syndrome, girls do not adequately produce this protein, so rather than atrophy, the synapses in the brain remain in an immature state. Always eager to learn, but not always able to hold on to what is learned.

We read of a study, the results of which were published 3 weeks before Campbell's diagnosis, in which laboratory mice that were given the genetic code for Rett Syndrome were injected with IGF-1(Isulin-like Growth Factor) to see if the molecular chain could compensate for the lack of the MeCP-2 protein. In
laboratory models, over the course of 3 years, the symptoms of Rett Syndrome had been reversed.

 This was exciting news, yes, but there hasn't been a single neurological disorder that could be reversed in human history. But there it was - in mice.

 I checked the article, and by finding the names of certain people, we able to locate the hospital that plans on conducting these clinical trials with IGF-1 in humans. I made contact with the people, and we are currently waiting on the start of the trial. Campbell has an excellent chance of acceptance - Can go to Boston once a month, she is the right age (2-14) and her mutation ends with X. There's a reason for that.  I'm not going into it, but trust me.

We saw Dr. Omar Khwajha in Boston, he was part of the team that identified the genetic cause of Rett Syndrome. He had some street cred. The appointment was simple - driving through Boston was not - after looking at Campbell, he said she's very mild symptom-wise. Also, that she should be walking within 1-3 years, and that is her best hope to fight off scoliosis, which is typical of Rett girls.

You've gotten the abridged story so far.

But WHAT is Rett Syndrome?
  I watch Campbell playing and enjoying herself, and it makes me smile to no end. Lately, she's been more fussy than usual, and it puzzled me for a while. She had been so happy. Then it hit me like a load of bricks: Her brain is fully functional, but the muscular control is lacking. She's frustrated. She wants something and doesn't know how she can express her wishes.
  Rett Syndrome basically takes a child away from herself. She wants to say and do so much, but the motor function isn't there. It's like being in a nightmare where you can't scream, but it's real. And it's for life. This little girl with hopes and dreams she's currently unable to express. Kills me to think about, but there is hope right around the corner.

For more information on Rett Syndrome, and stories from more parents and children affected, go to