So Grace’s D + V {diorama and vomiting} turned into vomiting blood and an ambulance to the hospital. I’ve never seen any of my kids so poorly. Remember that time she fell 5 feet onto her head? She was STILL smiling through that. And this week, we went for 4 days without so much as a shadow of a smile which is a pretty good indication that this illness had hit her hard.

In the hospital, she had fluids through an NG tube and went home freshly hydrated and strengthened to get through another day or two of sickness. She’s all better now, but man, oh man…don’t ever want to do that again!

By the way, this beanbag has been amazing for Grace. Click the image to be taken to see where I got it.

Grace has been so so sick this weekend. I must admit sometimes when the boys are down and out, it’s nice to have a calm day cuddling with them, but this is the first time that Grace has been well and truly S.I.C.K and it’s been hard. She just ate for the first time in two days and it hasn’t come back up again so I think she’s on the mend. But for two days, it’s just been vomiting, sleeping, fevers and -ya know- coming out the other end. I never know what to do when the kids vomit just after medicine. Do you give it to them again?

When Grace is ill, her Rett symptoms are harder to control. The crossed eyes, her wild hands, but most of all, the tremors. We have to hold her head still for her because she can’t do it herself.

Needless to say, we’re very much looking forward to a cure. So someday when Grace is puking up the lovely germs some kid gave her at school, we can proclaim, “in the bucket, Grace!” instead of right down my shirt.

With the PH probe in her nose

Grace and I spent yesterday and today at Southampton General Hospital having a couple of tests done to prepare for her g-tube surgery next month. So for 5 days leading up to her appointment, she was off all of her meds. We expected a hellish few days and….nothing. No crying, no pain…nothing. She had a PH test where the threaded a little probe wire down her throat to record her acid levels because we had reasons to believe that she’s had severe reflux for two years, now {vomiting, coughing, crying, gurgling, etc}. And then they did contrast x-rays to watch some dye go through her stomach to see if there were any physiological reasons for the reflux.

All of this was to decide if she would have a fundoplication at the same time as her feeding tube.

And the results are…{drum roll please}…she doesn’t have reflux! Not at all.

So her feeding tube surgery {a peg} will be very straightforward and nothing too exciting. We’ll still be in the hospital for 3 days, though, but at least it’s the nicest hospital we’ve experienced so far.

thank GOD for iPads

getting her x-ray

Yesterday morning, the boys decided to raise money for Grace’s cure because they “want her to play with us”. So Jack donated his piggy bank and they came up with a bag of toys {and one fossil} which they were willing to sell in exchange for £3.

Elijah got up at church and made his announcement about the plan and explained about “Grace’s hero Dr. Adrian Bird”. He showed his drawing of ‘the Rett rat’ before & after the cure which happened in Dr. Bird’s lab in 2007:

Then he showed the mathematical equation for the ‘potion’:

They both then spent the whole time after church standing by their table {why didn’t I take a picture?!?} selling their wares and calling people over to make a donation. In total, they raised £29.30! Go Elijah & Jack!

On Grace’s first birthday {one month before her diagnosis}, we had an amazing birthday miracle. It was the first and only time that she has ever reached out and put birthday cake into her mouth. On her second birthday, she was quite lethargic and didn’t really care about anything going on so that was difficult for us.

But yesterday was her 3rd birthday and it was the best one yet. She was super happy, super connected and super aware that everything was all about her. And we also had a couple little birthday miracles! When we showed her Nanny’s gift and told her it was from Nanny, she very forcefully and intentionally shouted “NNNNNA NNNNA”. She totally nailed her ‘N’ sound and that’s the first time she has ever uttered an ‘N’. The second amazing thing that happened was that when we presented her with her cake, she BLEW THE CANDLE! Not hard enough to put it out, but we were astounded and she was very proud of herself.

She had a bit too much cake, I think, because she puked it up in the night

The type of tube Grace will have

I seem to remember an episode of the Simpsons where Homer was amazed at the invention of feeding tubes so he could eat without any effort. Anyone else remember that?

We went to Grace’s surgeon appointment yesterday and she immediately started talking about which tube Grace would have. My head was spinning. I was like, “so are you saying that you think Grace needs this?” She replied that Grace “clearly hasn’t gained weight in a year” which I wasn’t aware of. I guess different doctors have kinder ways of talking about weight and she was so plain about the fact. In her opinion, she doesn’t think that what Grace is experiencing (see my last post) is actually Sandifer Syndrome because she didn’t think that strange eye movements were a symptom, however I told her that I read they were and she said she’d look into it.

Although insertion of a feeding tube (a ‘peg’) is a very safe and routine procedure which needs to be redone every 18 to 24 months, there’s a more high risk surgery called a fundiplocation for children with severe reflux. This is a more risky and heavy duty surgery and it mostly happens separately after the first operation if the reflux persists. However, in some cases it’s done at the same time and she’s considering this in Grace’s case. First, we have to have a couple tests to see how severe her reflux is and if she does, indeed, have this Sandifer Syndrome I mentioned.

The first test is an overnight PH study where she goes off her meds for a few days and they measure the PH levels in her stomach. The other is a contrast study of her digestive system to see if she has any anomalies which are causing the reflux. She’d also like a prolonged EEG which will measure her brain activity for a few days to see if she has seizures, however her specialist said she hasn’t done one in 10 years and is looking for the equipment to carry this out. Grace will definitely have one but it will probably take months before that happens. At any rate, the reflux tests will be in the next 3-4 weeks and the surgery will take place shortly after. So I suppose we’re looking at another lovely Rett Syndrome Christmas.

On that note, it’s her birthday on the 24th (Thanksgiving) and I’m trying to be positive. Both her other birthdays were tainted with sadness for different reasons and I wanted this one to be different.

Grace has been behaving really strangely lately and I have assumed that this is due to anxiety. In my research, I’ve read the studies on Rett mice and their increased anxiety and stress response levels and took that to mean that this must be the explanation for Grace’s sudden strange changes which include instant stiffness, so rigid that we can’t bend her arms and she twists and contorts in unnatural ways that make her very uncomfortable. As you can see in the photo to the right, she rolls her eyes back. Also with this is very strange head movements and a look as if Grace has disappeared for a moment. These last from 1-3 minutes and every single description from this I read on Wikipedia describes what Grace is experiencing.

So the other day, I spoke to her beloved Dr. L (we LOVE this lady!) and she mentioned Sandifer Syndrome. I was frustrated and thinking “you’re not listening to me!” when I said I thought it was anxiety, but the more I look into it, the more sense it makes that this is exactly what Grace is going through.

Sandifer only happens in 1% of reflux cases and usually subsides by the age of three except in cases of severe mental disability, in which case it can extend to adolescence. We’ve increased her reflux meds and she’s starting the muscle  relaxer Baclofen to ease the spasms. Balcofen is a really interesting medication used to treat things like alcohol dependence, Lou Gehrig’s disease and Multiple Sclerosis. I just hate seeing this take her body over and causing her pain. As if she hasn’t had enough stolen from her by Rett

For about 18 months now, Grace has had this very basic standing frame given to us by physio –> As you can see, we had to get pretty creative since she’s as floppy as a (insert clever simile here). We had to pad the front of her with towels and then we had to get the ortho team to make gaiters to put on her legs since she always found a way of bending her knees and just sort of hang there rather than actively stand.

So last month, we took Grace down to the physio office to meet the rep from Jenx who provided her with her bee chair and first standing frame. She was fitted for the Jenx Miltistander which we were told wasn’t given to famlies but used in schools for multiple children. We were also told that this was the most expensive frame there is and that it’s the newest thing no one has yet. Dunno how true that is or if they meant overall or just in this area? But being that Grace doesn’t put any weight on her own feet and can’t even straighten her knees, this stander was exactly what she needed. The benefits are:

• Through hydraulics, the whole unit lays flat while she’s being strapped in and then you push a button and raise her to standing position.
• There are dedicated knee straps which is perfect because that’s where we get the most difficulty – she bends her knees and then the standing frame isn’t doing its job. This does away with the extra steps of getting her into her gaiters before standing.

So our lovely physical therapist applied to see if Grace would be provided one for use in our home and she got it!

Here are some photos of Grace in her new standing frame

When I first met my good friend Kori, co-founder of the RSRT UK, she brought me to tears when she said that “someday, a diagnosis of Rett Syndrome will be good news.” This replays in my mind over and over and over as I think about diseases that used to be bad news like Rett Syndrome is now. Spina Bifida used to be 100% disabling. Now, they can do surgery on babies in the womb to make them whole before they ever even enter the world. Meningitis used to be incurable. Hypothyroidism used to be incurable. Diabetes also killed. I have hypothyroidism. The doctor didn’t say, “it’s bad news. You’re dying”. He said, “Good news. take one of these pills a day and you’ll be fine.” I’m sure that when epidemics of smallpox were killing by the thousands, it was unimaginable to believe that there would ever be a time that we could say “that was back then before smallpox was eradicated.”

Someday, Rett Syndrome families will look back on us in 2011 – they might even read this blog – and they’ll say “oh wow that was back when there was no cure”.

So just like Kori, I dream of the day when doctors will say “good news – your daughter has Rett Syndrome. And there’s a cure.”