MRI (written in June but delayed in publishing)

Tomorrow will be Ambrose’s third MRI in his short life. A procedure I’m lucky enough to say I haven’t needed as of yet in my not so short one. The first MRI was critical in helping the doctors to narrow in on his eventual diagnosis. The last one and the one tomorrow are just a way for them to track his regression. These are the procedures that help the doctors stuying GM1 but do nothing to help our son. It’s very hard to put Ambrose through these hard, sad moments knowing that they in no way change  his future. 

Why do we do it then? 

Ambrose is on a drug that has proven to slow regressions for some patients with GM1. This drug, miglustat (or Zavesca,) is part of the synergy trial we enrolled Ambrose in. The trial involves keeping him in ketosis through a special diet and keeping him on the medication. Zavesca is not a cheap drug, even with 70% of it funded through emplyer benefits, the remaining 30% would cost the entirity of our combined monthly income. We’re lucky enough that Actelion – the makers of Zavesca support this clinic trial and are willing to cover the 30% remainder as long as we are part of it. Sadly for Ambrose, being part of it means running through tests every year that make him misserable. 

Six Month Hiatus

I haven’t posted now in about 6 months. Reading back my last post from November I’m tearing up as all those doubts are now a part of our daily lives. Ambrose HATES his G-tube, I’ve been putting off writing about this in the hopes that he was just healing, but realizing how long it’s been and that he hasn’t gotten any more comfortable with it I honestly don’t think he ever will. He has regressed now to a place where he needs it or I don’t think he’s be getting anywhere close to enough water and even knowing that I can honestly say I deeply regret putting him through the surgery and everything that’s followed.

Ambrose got his wheelchair in January, finally! He actually loves it. It holds him up high so he can see and interact with people and the seat is designed perfectly for his kyphosis so he doesn’t hurt and get squirmy like he does in other seats. We are thankful that we upgraded to our van last spring so we can actually travel with him, but are realizing that proper wheelchair van might be in our near future. The chair is much heavier than we had anticipated, as is Ambrose and we’re starting to realize that he’s getting too big for his carseat but lacks the muscle strength to graduate to a booster. This spring we will be working on a wheelchair ramp as four days a week Ambrose goes to school in his chair, we’re lucky enough that the bus pulls up to our door, but dragging the chair up and down our steep stairs (especially in winter) is a huge challenge.

I’ll try to keep stay more up to date. That’s all for now.

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Ketogenic Diet, Minnesota and Surgery

It has been a busy time for us lately. Ambrose was in the hospital 3 weeks ago to start on the Ketogenic Diet. The process was much harder than I was prepared for, but the transition since we have been home has been surprisingly smooth. Ambrose is cleaning his plate at every meal and eating all kinds of healthy foods he would have snubbed only one month ago. His meal prep and feedings take a great deal of energy on our part, but it seems worth it alone to see him happily eat broccoli and kale salad!

When we were still in the hospital struggling with an overly ketonic boy resisting both food and water, we made the decision that we should arrange a G-tube for Ambrose sooner than later. A common sentiment in the GM1 forums is that parents wish they had gotten this for their children sooner and when we brought it up with his doctor we got the sense that it was something he felt was overdue.

Ambrose got put on the fast track list, which meant he had a date mid December, that we found out last week was bumped to late November. Ambrose’s surgery date infact is in just 3 days, and I find myself struggling with this giant next step that seems to be rushing up on us.

I traded away my shift tonight so I could catch up on sleep and be fresh tomorrow to start preparations for yet another week long hospital stay. Unfortunately my mind is racing and I’m filled with so much emotion and uncertainty that I can’t lay still or even think about sleep. I was finally starting to feel sure that the Ketogenic diet was a positive step for Ambrose and now I’m filled with a fresh set of misgivings about this surgery and Minnesota and the coming medication.  I’ve written before about the difficulty in having to make this sort of decision for another person. It never gets easier, and it seems there are no guarantees, except many, many more sleepless nights.

Ketogenic Diet and Clinical Trial

We have just over two weeks left before we start Ambrose on the ketogenic Diet. This is with three hopes in mind:

1) That it will help control his seizures

2) That it will reduce side effects when we start him on Miglustat (Zavesca)

3) That it might actually improve the performance of the Miglustat

Ambrose is still fed orally so we know that the ketogenic diet is going to be a huge challenge. It requires strict calorie counting and a narrow range of foods that do not seem all that appealing. I worry that in the course of a week (the time he’ll be admitted to hospital to be monitored as he starts the diet) he’ll lose what little independence he still holds dear.

A month later we’ll be heading down to Minnesota to meet the clinical trial team and finally get Ambrose started with Miglustat. We have a busy few months ahead of us and it’s hard to tell if it’s all more scary or exciting.

Over 1 year

It’s just over a year now since we got Ambrose’s diagnosis. It’s hard to even remember what things were like back then. What Ambrose was like; or what I was like. In just one short year we’ve already lost so much of our guy. He has gone from a charming, happy boy who just happened not to talk and not to run or walk as well as the other kids to a boy so sadly and so obviously afflicted by a terrible condition. We went from Parents who would fight giants to save our boy, to people who feel they’ve been stepped on by those very same Goliaths.

Ambrose’s second year of school starts next week. Thinking about his new year, just makes me realize how far he has regressed since last September. I worry that his needs are too high now and that his school, which we love won’t work for him this year.

Strange New Seizure

Today Ambrose had a “seizure” (atleast that’s what his doctor is calling it) that is unlike any he’s had before. This reminded me of watching a sufferer of Parkinson’s Disease, you can see that he wants to be moving, but looks like his body just won’t cooperate. This event lasted about 2 minutes. I’ve attached the video but please be warned it is hard to watch.

Trying to control the seizures

Ambrose’s quality of life has been terrible the last month or so and it has honestly been making us question everything. When me met with his neurologist to discuss the Ketogenic diet they stressed the importance of getting his seizure activity under control (at that point they were very mild, lasting no more than a minute, with roughly 5-10 a day.) We got Ambrose back on seizure meds and in the time between then and now he has deteriorated rapidly. He’s having many seizures an hour, they’re longer a fiercer and leave him a wreck. We’re trying everything we can to support our man, but ultimately are at the point where we need to make some pretty serious decisions for our little man.
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Weekend Away

The boys and I just got back from a long weekend is Whistler. We got to visit with lots of family and swim in a mountain lake every day. It was great to see everyone but we are all suffering a little jet lag. The boys definitely loved being surrounded by so much love and attention! I added two pictures of them happy at home. Now back to reality!
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