Newest Diagnosis for Lily

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:

Settling back into our routine

It’s been a week since we left the hospital and we are both still excited and relieved to be home!!

Lily’s been doing great. The steroids have made her sleepy and she does have roid rage from time to time (which is scary to see – especially when it’s an almost 3 year old) but generally she’s been responding well to it all. So far I’ve noticed her nonverbal language improving (her hands go up when I say ‘up’ for example) and her motor skills are better too (she’s bending her knees when she walks!). But no marked difference in verbal language. Yet. Docs said to give it two to three weeks.

We have a follow up appointment on Thursday with the neurologist to check in.

I’m still not thrilled at administering the daily shot but I’m getting good at it. Lily is the best patient ever. She never cries when she gets it.

I still well up 😦

Sending love to all. And please keep the prayers and positive vibes coming our way.

C & L

(These were taken earlier today. Her cheeks have gotten pudgier but she wears it well!)Image

A week at the hospital

Happy new year. We’ve been busy girls. At the hospital since Monday. Don’t know what day today is. But I think we can leave on Saturday. I really hope so.

We are making the most of it. I keep telling L we are on vacation – at the hospital!

Started the steroids a few says ago (to treat the ESES – a rare form of epilepsy she got diagnosed with the last time we were here). Today was my first time giving her an injection. She didn’t cry. But I sure did. My sweetie.

I’m hanging in there. One of my best friends from grad school was here with us the first two days and then the nanny came for a visit yesterday. John’s been popping in and out.  So I’ve been getting some breaks here and there. Today a friend is coming who I met at the ashram over New Years.

Exhausted. But L is doing great.

Please keep sending positive vibes this way.

C & L