Tag Archives: Rett Syndrome

Brave

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So here we are. Back at the hospital.

Lily is participating in a research study over the next 40 weeks on the impact of cholesterol on girls with Rett syndrome. The premise: lowering cholesterol levels in the brain (which are unusually high for girls with Rett) will improve gross motor function. Preliminary research is promising. (And if interested, I will email you the research paper).

I’m filled with tempered hope that all these tests my sweetie is, and will be, undertaking (along with 19 other Rett sweeties) will be worth the effort.

She is so brave. She is so strong. And I’m in awe at how she is taking all of these wires and pricks and prods in stride.

Our follow up appointments – thankfully – will be much less intrusive than this first visit.

I will be sure to keep you all updated on the progress.

C & L

A good week indeed

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Lily came home from school today in such a great mood!  Likely because today was the first day that she had a Tobii at school (which took a year of advocating). Using the Tobii, she told her teacher today that she loves her cousin and grandma and that she wants to go home and play with the nanny.

A good week indeed!!!!  My kid has a voice at school.  Finally!!!!!!!

Newest Diagnosis for Lily

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And it’s the hardest one to digest yet.  We were at the hospital today to check in with the neurologist on how the steroids are working (I’ve not seen a marked difference, except in the size of her cheeks and tantrums) and I pushed the doc to give me the results from the genetic testing, which we weren’t scheduled to get for another 5 weeks.  Anyway, we got the results.  And Lily has Rett Syndrome (which falls under the autism spectrum, but is so much more than just autism).  Confirmed by the geneticist.  This is likely the cause of her ESES (rare form of epilepsy) and the reason for her regressions.  We will stick with the steroid treatment for the next few weeks but if we don’t see any major improvements, this medical avenue will end.
Please, please, please send us both strength and courage and virtual hugs as we both need them; me probably more than her!
Lily is still the sweetest, prettiest, kindest and bravest little almost 3 year old out there. And I’m still convinced that she’s going to live a kick-ass life.
To learn more about Rett Syndrome, here’s a relatively comprehensive, yet digestible, fact sheet on it: