Memory lane (how we told folks that Grace had Rett)

Facebook has that great “on this day” thing where it reminds you of things you posted on that day in previous years. Sometimes I laugh, sometimes I think “wow I used to be such an a-hole”. About this time 7 years ago, Grace was going through her sudden Rett regression and we were in the hospital, waiting for answers, having tests.

This blogsite didn’t exist back then so I guess I was blogging about it over on our little site where I kept our family up to date with life in the UK. But thanks to Facebook, I found some old posts. So here are some excerpts from posts about how we told y’all that Grace was sick:

November 13, 2009

Everyone has been asking exactly what happened to Gracie so here I am finally coming out and writing it so everyone will know. We’ve been concerned about her for quite a while, but never came open with everyone because we were waiting for answers. But then something happened and it turned from a ‘concern’ into a mysterious and unknown illness.

Grace was born on the 24th November (she’s almost 1)! She laughed for the first time at 2 months on my birthday (1st milestone). Then when she was 5 months old, she rolled over for the first time. After that, nothing. She never sat up on her own, never held a bottle, crawled, said a word or waved ‘bye-bye’. We thought she was just a lazy third child, always carried around and had brothers running circles around her. She always seemed very cuddly with her head on your chest.

7webWe gave her time to catch up and never had any other kids around us her same age to compare her to so we didn’t think anything of it. Then last week, I had an 8 month old baby in my photo studio who was walking around, sitting up and engaging in ways which Grace never has. It really was a wake-up call and I suddenly saw things in Grace which I never saw before. 2 days later, we went to the Dr. and he said that she is clearly very ‘delayed’ and has missed all of her milestones ‘by far’.

In the meantime, Steven had been away in Africa for 2 weeks and when he came back, he saw quite a big difference in her, having been away and coming back gave him a different perspective than I had.

Last Monday, she began crossing her eyes and would bring them back if we clapped our hands or surprised her. On Tuesday, she was cross-eyed for most of the day and couldn’t straighten them. She started looking at her hands strangely, as if the was discovering them for the first time. When she ate biscuits, she choked on the bits rather than chewing and swallowing them. We took her to the hospital that night and said that although she’d always been delayed, we were suddenly seeing changes in her quickly. She stayed overnight and the next day, she had blood tests, EEG and a urine test. The EEG was normal (no seizures). The bloods and urines will take up to 2 weeks to come back because they are testing many detailed things like looking her her genes, metabolic panel, etc. They will be doing detailed tests on her chromosomes.

We went home after 24 hours and the next day (yesterday) she woke after 12 hours of sleep with a heavy head and promptly fell back asleep on my shoulder which she did twice in the day. She has never EVER fallen asleep on me like that before. Also yesterday, she was unable to roll over like she could before. She did so a couple of times, but not without 5 or 6 tries to get over. Also yesterday, she started playing with her tongue more than usual – chewing on it, thrusting her food out a lot and when she lays on her back, it seems to be falling towards the back of her throat. So last night for bed, we put her to sleep on her tummy and tucked her in real tight so she couldn’t roll onto her back and choke on her tongue.

A positive development is that in the hospital, she seemed to begin asking for her ‘baba’ when she saw her bottle and yesterday, while we were having a cuddle in bed, she turned her head towards Steven and whispered ‘dadda’. It was beautiful. Today, she is rolling over. Also today, she started having a strangely clawed hand which she gets fixated on bringing infront of her eyes and looking at. It is her left hand and also the left eye is the one that turns in the most.

In herself, she is happy – giggly, smiley and not in any discomfort and for that we are so so thankful.

After 4-5 days of steady decline, she is having a really good day today and we are encouraged that a healing has begun.

We’re trying hard to hurry along the process of hiring a nanny to help us. Being that I have a business and we home educate the boys and Grace will need to start therapy soon, we just can’t do this on our own and stay healthy and stable for the kids.

Remember to send her happy wishes on her birthday in only 11 days! She will be 1? I will be keeping any cards, well wishes or blessings you send to her for her to keep forever and ever to know how much everyone loved her in her time of need.

God bless and keep checking back for good reports about our girl.

December 19, 2009 (D-Day)

6webWe were summoned to the hospital where we met the specialists who have been caring for Grace who sat me down. It was kind of like a movie – me on one side, them on the other. They very plainly just said “Grace has Rett Syndrome” and then we proceeded to talk about all that it entails and about her particular gene mutations which are special in her.

Girls with Rett can have it as a result of a single mutation or a mutation of two genes. She has the single gene. We now have to decide if we’re going to be tested to see if we are carriers. There is only a 5% chance that she got it from one of us and a 95% chance that it was a completely new gene developed out of the blue only in her.

The Drs said that the syndrome started up earlier than usual in Grace (around 6 months they predict) so they don’t know if they can predict the things we can expect in the future.

We’re meeting a geneticist who will look at her genes in detail to tell us more about her particular mutation and what it means for her future. It’s all very early days there are lots more tests to go. She has some symptoms which aren’t typical for Rett and she has to complete her neurological tests (including MRI of brain and spine as well as a possible spinal fluid test) to see if she has another condition in addition to Rett.

Because Rett is a neuro-muscular condition and she has a delicate immune system, the whole family will be getting swine flu and seasonal flu shots.

There will be no problem traveling to Florida (hopefully in February) and we’ll be traveling with letters to explain her condition should she need medical care or special considerations on the flight, etc etc.

Last night, I said ‘buh-bye’ and she copied me. It was the first time I’ve ever heard her voice it was beautiful. They said she is probably at the end of her regression period and will just continue gaining skills from here. The Dr. said that one of her 2 1/2 yo’s who got her retts at 16 months has just learned to walk. We are hopeful.

January 21, 2010

It’s been a while! Some bullet points to keep you updated:

  • Grace has started her MDA (multiple disciplinary assessment) which is two weeks with occupational, physical and speech therapists and then in two weeks, we will have a feedback meeting which will include the therapists and her doctors. This is where they all tell us their ‘findings’ as a panel and tell us their plans and recommendations for her therapy/treatment.
  • MRI tomorrow.
  • Grace makes great strides every day. Yesterday and today, she is happy and engaged with us. She is screaming to get our attention (an ear piercing, yet very good sign). She is engaging in the eating process (making eye contact with her food and working with her mouth to get it off the spoon).
  • She has become attached to a couple of toys which she hasn’t ever done before now.

I’m sure there’s more that I’m forgetting. Will write more after the MRI.

Feb 17, 2010

Wow it’s been a while.

Let me see…updates. Oh, yes…we decided to put the boys in school (!!) It’s not the life I’d planned, but then again I didn’t plan Rett Syndrome either so I’m just going with the flow.

2smlrGrace’s 3 weeks MDA (multiple disciplinary assessment) is over now and the verdict? She’s floppy. No joke. So now she’s been officially recommended speech, occupational and physical therapies and portage service. We’re also waiting for equipment for her. A special chair and a standing frame which looks a lot like a torture device to strap her into a standing position for a certain amount of time per day.

Her MRI came back normal so they’re just putting her ‘extreme hypotonia’ (floppiness) down to the fact that her Rett began at the extremely young age. Her Dr hasn’t ever had a patient whose Rett began as early as did Grace’s so she finds this all quite interesting.

Grace has been crying for 3 hours every night starting at 1am for 5 nights now. Inconsolable crying. I’m soooo tired.