Grace for Rett » Grace's Life with Rett Syndrome

An Update {and a tantrum}

Grace’s specialist called last night and asked to come over this morning (so naturally, Steven and I were up till 1am cleaning!) She’s so so lovely and she came over because she hadn’t met Steven at the initial diagnosis appointment because he was at Jack’s school nativity show. We talked about lots of things and I asked questions I hadn’t thought of before.

Q. Why do some RS girls have feeding tubes?
A. Because they can’t keep their weight up through normal eating and that’s just something we will be watching closely for Grace. She said to add a third whole milk feed everyday to keep her in the right weight.
Q. What does she think about her RS patients’ ability to understand the world around them? Does Grace understand things?
A. They understand one-word concepts (their name, ‘no’, ‘yes’, ‘food’) but not sentences and no understanding about the world around them.
Q. Do any of your RS patients speak?
A. Some of them can say one word, but none of them communicate
She reiterated that Grace is unusual from any patients she’s ever had with RS because she is so floppy and the neurological investigations are still moving forward.

The head of physical therapy has asked to see Grace at her appointment on the 13th and they are aggressively planning her therapy.
Grace is ’speaking’ loads and has started letting us know when she’s upset and even threw a temper tantrum the other day which was beautiful. I never thought I’d say that!

Erica - January 7, 2010 - 6:28 am

Hi there, I am a mom of a little one with Rett Syndrome as well. we just got her diagnosis on 11.09.09. She is 3 and a half. I find what the specialist told you to be unsettling and not really true. maybe about the feeding tube but nothing else. there is such a range of abilities. my daughter can understand sentences and the world around her and I bet yours does too! and my daughter communicates-not well but she gets her point across. She has about 25 words!
where is your daughters mutation? Avery has a deletion on the c terminal. she is mildly affected so far.
I saw your blog on a Rett Google alert-your daughter is beautiful and your photos are amazing!!

elizabethhalford - January 7, 2010 - 11:25 am

@erica: Hi Erica thanks for the message 🙂 Grace hasn’t seen the geneticist yet to know more details about where her mutation actually is so I don’t know. Because Grace’s RS started on the extreme early end (6 months), she had never learned to say a word, sit up, crawl, hold her bottle, etc. so she doesn’t have anything to build upon. I don’t know how that pans out in the physical/speech therapy, we’ll see when that gets started next week. And when I say ‘no understanding of the world around them’, I just mean that (like autistic children) they don’t comprehend social situations if you know what I mean. But of course, these are things I’ve read in the RS manual from IRSA and saw on the Silent Angels DVD. You have far more experience than I do at this point so I really appreciate the encouragement!

Erica - January 8, 2010 - 7:56 am

Im glad you got my message! I wasnt sure if I did it right. I bet Grace will surprise you. yes, we had been dealing with delays and wondering for a long time so when we got the diagnosis nothing really changed-sky is still the limit for Avery as Im sure it is for Grace-Rett is so all across the board. I was told that even if two girls the same age have the same deletion they wont necessarily have the same symptoms or severity of symptoms-I think all due to x-inactivation or something! Are you on facebook? There is a HUGE community of other Rett moms and dads there that I have found extremely helpful! if you are, add me as a friend and I can help you find the great parents and pages! search for Erica Bessey Robertson
where do you live?

Erica - January 8, 2010 - 8:00 am

oh,we have a blog too!
hope youll stop by!

elizabethhalford - January 12, 2010 - 10:30 am

Oh she is BEAUTIFUL! Just spent some time on your site. Grace starts her PT tomorrow. Before RS ‘hit’ her, she’d never done the things Avery did (walking, sitting up, etc). I don’t know if I should be hoping that PT will actually teach her these things now that she has RS. Trying not to get my hopes up.

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