They're at the most severe end of the spectrum...

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The girls with Rett Syndrome are the most strongly affected. It leaves them completely helpless and in need of full assistance in every aspect of life.. they also have seizures.

My daughter has RS. This week alone, out of the families I know with girls with RS, a 3, 4, and 14 year old have died. Researchers are so close to finding a cute (they've reversed symptoms completely in mice).

I'm asking those of you to have a minute to please click on the link below and vote for rett syndrome research. That's a huge chunk of money, and currently, a single high school is winning it for a weight room. I don't usually do this, but as a mom, I have to do everything I can to provide hope for my little girl.

Link to Pepsi's page to vote

A short video about my little girl and Rett Syndrome..
http://www.youtube.com/watch?v=-UPl22IOrSA

Thank you

I voted and watched the video. Thank you for posting the video of your dear daughter's journey so far.

veiled expressions

I voted and watched the video.

While I hate to interject something here which may be perceived as "negative" by some,
I must say i'm a bit disturbed by the rather twisted set of priorities here.


I'm sure it's a high school in an economically-deprived area and i'm all for helping the economically-disadvantaged.

But a weight room?

Last time I checked....nobody dried up and withered away for want of a weight room
in their high school.

Decent textbooks, teachers, computers and safe schools are one thing.

Weight rooms....sorry...not a priority.


That's not to say they shouldn't have one....but to choose to fund this over research for Rett's syndrome is a bit obscene IMO.

Anyway....I wish you and your daughter the best of luck.

There is such a thing as mild Rett's. I know several women who were diagnosed just with autism or AS, who had had the standard development in Rett's but a milder form, and who tested as having the gene for Rett's. One of them has a daughter with severe Rett's.

i just watch the video
i hope you can carry on getting support... and raise money adn tell people abut this condion.

Yes, and I believe there is a correlation between severity and the amount of cells with the dominant X cell carrying the MeCP2 mutation. My daughter is severe, but not as severe as the girls who need a feeding tube. She cannot do anything for herself, and has lost her ability to speak, and never was able to walk. RS took a lot from her. She's in therapy to keep her as strong as possible as we wait for a cure. I only hope something comes along before it's too late.

I agree 100%, and thank you

...I'm doing my summer internship in a gene therapy lab; does that count?

Seriously, though, I think a great deal can be done with the things we know now, without new discoveries. Good medical care; communities supporting families; and technology to fill in the gaps... Lifespans for Rett's girls have already doubled in the last couple of decades, just from that.

I say "girls" because Rett's almost always does happen to girls, because males can't make it to viability; but of course every once in a while there'll be a boy with Rett's because he's got an XXY or similar genotype, and that's enough to survive to birth. But it's an overwhelmingly female thing, in general.

I still don't think people with Rett's are the most severe, other than the associated mortality (which I agree, is pretty severe, but it itself isn't an "autistic" symptom).

Those with Rett's are on average, less "autistic" than people with "autistic disorder", for example, but they just have the other medical conditions that shorten their lifespan, sadly.

IIRC, most with Rett's tend to improve quite a lot socially as they develop, whereas those with AD/AS stay the same for the most part [in comparison to their peers].

I think high mortality rates automatically make it more severe. A person can live happily for eighty years being profoundly autistic.

I disagree with your statement that non-Rett's ASDs involve a stasis of social development; the ASD people I've met who are college students are all more skilled than the high schoolers, and these are more skilled than the children. Maybe our natural talent for socializing doesn't change; but our skill does, just like a dyslexic person will be a better reader at twenty than they were at ten, even though they're still just as dyslexic.

I voted and posted on my Facebook page.