Tag Archives: Rett Syndrome

Outrun Rett

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One of my Rett momma friends is organizing a charity run this coming weekend that Lily and I will be participating in.  I’ve been so busy that the event has just crept up upon me and I’ve had no time to help promote, or to fundraise.  Until now!

For those of you in the New York area, consider joining us.  For those of you afar, consider donating.  All proceeds go to Rett Syndrome Research Trust.  And every single dollar raised moves us closer (and faster) to a cure.

Lily and I will be run/walking this 5k, and I’ll have the stroller as a back-up.   I dream of the day that we will be able to go for runs and hikes without any equipment needed.

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The Beauty of Technology

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A friend posted the below link on his Facebook page yesterday.  I began to open the link knowing that I was opening myself up to an avalanche of self-pity and ‘what-if’s’. So I closed it down.  But the title of the article, well, it stayed with me.  I woke up this morning and had to add my take to his somewhat smug post (which, by the way, I totally get and likely would have posted similarly had I not found myself in my unique parenting situation).

Here is the link: ‘Stunning photo series shows what it’s like to grow up without technology’.  

Here’s my comment:

Just reading the title of this article fills me with a level of jealousy I never knew existed. I have two iPhones, two IPads, a tablet and a $20,000 eye gaze device that I rely on to not only speak to, but also educate and comfort my child with Rett Syndrome. And because of this technology, my 5 year old nonverbal child told me (through technology) last night that she wanted a jacket because she was cold. I don’t think anyone could truly understand how amazing that moment was – to hear her express her basic needs – unless they have to live through it. Not all technology is bad and not everyone can follow the ‘ideal life’.

I dream of the day when Rett Syndrome will no longer be our reality.

 

Lily, Lily legs

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The other day I posted the below message in Facebook. I thought it went up on the ‘My daughter has Rett Syndrome’ family group. But it was posted to the greater FB community as well. And I’m grateful for my error. I got so many fantastic recommendations from both groups. Now to choose which chair support to buy….

Here is the post:

So Lily is getting REALLY long. Which is not surprising as I’m 5’11” and her dad is 6’5″. But it’s starting to cause an issue for when we go out to dinner. Or go grocery shopping. Those Caroline’s carts have not made their way to Whole Foods in NYC (or any other grocery store for that matter). And when eating out, she can still fit in a highchair (she’s skinny) but she’s literally got both feet on the ground! If I don’t have her in the highchair, she will roam the restaurant looking for cute boys to steal food from. What do you do when you take your girls out to eat, who are roamers, and don’t fit into highchairs anymore?!

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Those piggies are flat on the ground!

 

Understanding cognition in girls and women with Rett Syndrome

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In my quest to find an answer for whether or not to do the neuropsych, I came across this recent article.  Here is a relevant excerpt:

It is extremely difficult to evaluate the cognitive abilities of individuals with RTT as these are masked by their motor, apractic and atactic difficulties, which limit normative evaluation. On the other hand, many research projects have suggested that individuals with RTT are able to learn [18-21], and that the learning skills can be enhanced with appropriate motivational factors [18] as well as that learning is sustained after a ‘washout’ period of the learning program has ended [18]. It is also clear today that individuals with RTT can learn new skills [22,23], including literacy [20,21,24], and that learning ability is sustained in individuals with RTT at all ages.
The article is insightful in many levels and the premise is basically that girls and women with Rett Syndrome need intensive and constant therapy/intervention throughout their lifetime to maximize their quality of life.
I’ve seen the positive effects of intensive intervention firsthand.  And there is now some data to demonstrate that Lily is progressing both motorically and cognitively.  For example, her first progress report for the year has come in and it is the FIRST TIME that the teacher at school has indicated that Lily has made significant progress in a few areas.  It is most definitely because she has a Tobii at school now, and that her teachers and therapists are committed to engaging with her through it.