Grace's Life with Rett Syndrome

Jan 25 2012

Grace’s tummy results are in {PH Study, Contrast X-ray, Feeding Tube, Fundoplication, etc}

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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.

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thank GOD for iPads

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getting her x-ray

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Jan 23 2012

The boys raise money for RSRT

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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!

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Nov 25 2011

Grace’s 3rd Birthday {two little miracles}

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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

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Nov 02 2011

Homer Simpson wanted one, Grace gets one soon {feeding tube}

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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.

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Meggan - November 2, 2011 - 3:59 pm

I had a fundiplocation when I was 19. I had had reflux as long as I could remember but thought it was part of normal life. I remember waking up in the night as young as 5 and being annoyed by the burning feeling in my chest. My last two years of high school it finally became unbearable and my esophagus was being torn apart by the acid. Enter the fundiplocation surgery. I am now 30 years old and can say that the surgery was a success. I only have heartburn when I’m pregnant (who doesn’t) and my esophagus is in excellent shape. The one down side, when I need to throw up, nothing comes out. I can heave and heave (sorry maybe tmi) and all the food stays snug in the tummy. Hope everything turns out well!

Tiffany - November 19, 2011 - 6:39 pm

Sasha, also diagnosed with Rett’s, had a nissan fundo at the age of 4. I thought it was going to be the worst thing ever, taking away one of her last enjoyments, food. I can absolutely say I was wrong. Her gtube nissan fundo was the best thing we ever did for sasha. She began to thrive, her reflux was completely gone almost overnight, and she was off of all reflux meds. It also greatly decreased the amount of aspiration pneumonia occurances that she was having several times a year to almost none. It is so easy to feed her this way, no more battles of trying to get enough nutrition into her, and she doesn’t seem to mind not having anything orally anymore, which I thought she would. This has also proven to be a great way to get her seizure meds delivered to her also. I would love to answer any more questions about the experience we had if you have any! Good luck to grace and your family…..
xxoooxx, Tiffany

admin - November 20, 2011 - 8:29 pm

Oh wow that’s really great feedback thank you for that Tiffany!

Erika - November 25, 2011 - 6:25 pm

That is the same surgery Asher had when he was about 2 months old. It went smoothly and healed fast. No more reflux. Now, nearly 3 years later, looking back, it was the right thing to do at the time. It does come with some annoyances, as others have described……not being able to throw up when sick means the “Bug” has to work it’s way through the entire GI tract before exiting and can prolong illness and discomfort a little. And losing the ability to burp is a minor irritation because Asher walked around with a bloated abdomen and became a VERY “windy” child. He was also taking all of his foods orally at that time and had the button removed so we couldn’t “burp” his line for comfort, which is different from your situation. But, taken as a whole, it sounds like those minor inconveniences could mean a lot more peace for your family and dear little Grace by removing the Reflux Scream Sessions. I pray all goes well with the surgery and Grace thrives above and beyond what is expected Love you guys!

Oct 31 2011

Sandifer Syndrome?

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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