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: