And now for something new…

Since this episode in our lives began in August, I have learned something key about myself: if the caller ID on my phone displays that it is one of the specialists offices calling, or the clinic here in town, HSC (Health Sciences Center, the big hospital in Winnipeg where most of his specialists are located) or even some unknown Winnipeg number, I can count on my anxiety level rising rapidly!! (Picture a volcano with lava slowly pushing up to erupt. Yup, that’s me with my anxiety burning as it slowly begins to explode.) So, as you can imagine, when my phone rang on Friday afternoon around 1:30 and the ID said “HSC”, my heart began racing, right on cue.

It was the Genetics office. We had been awaiting the initial results of the bloodwork taken 3 weeks ago, so I was hoping they were calling with uplifting results. Mainly, I was hoping to hear that whatever Evy has is not a progressive disease (meaning that he should not get “worse”, he should progress at his own rate, and his lifespan should not be affected). Well, no such luck, because many genetic results can take 2-3 months to arrive back…but they DID have some news for us…it just wasn’t the news I was expecting…

Evys’ bloodwork showed a low level of “something”, and they wanted to repeat that specific test to ensure it wasn’t a “fluke”. “What level was low, may I ask?” I said to our genetic counselor. She hesitated a moment, and said “It was in the plasma, something called ‘Guanidinoacetate’. It’s normally not low…it could have been just by chance, but we would like to repeat that test to be certain.” I responded “Oh, ok…” and proceeded to make sure the new requisition form would be faxed over to our lab here in Flin Flon so that we could complete this new test asap. I said “thank you, have a good long weekend”, and we ended the call…

A few minutes later, I thought “why didn’t I ask what this could indicate?”….”why didn’t I write that stupid long name down…what was it called?….something in the plasma…” Now, if you know me personally, you know that making phone calls isn’t something I like to do. In fact, making phone calls used to cause me great anxiety, and I would avoid doing it at almost all costs! I’ve conditioned myself to get over that for the most part, but phoning Genetics back still didn’t make me feel all warm and fuzzy that afternoon!

This time when we spoke, I made sure to write that damn loooong name down (as I asked her to spell it, ha!!): “guanidinoacetate”, she spelled/said. I then did a bit of research about how a low level of “gua….na-something-or-other” (I’ll get that right eventually) may correlate to the other pieces of what we affectionately call “The Evy Puzzle”. Our genetic counselor had also said this “this” wasn’t something that had been on their list of “most likely” causes for his abnormal white matter and delays….therefore I wondered what “this” was…

Just a heads up–if you thought I was clumsy about spelling that last word, just wait until you see THIS name, ha!! (and here I had always thought I was good at spelling, lol!) The new possibility is ‘Guanidinoacetate methyltransferase deficiency”, “GAMT deficiency” for short. It is a genetic metabolic disorder that affects the brain, and muscles. It would account for everything about our bug: his hypertonia (low muscle tone), his delayed speech development, his ataxia (issues coordinating movements) and his autistic-like tendencies. This is the first option that actually fits him like a glove. Also,s ince it is a metabolic disease, it actually does have treatments to help manage it (which the other things we had explored so far did not, so in this manner it would be kind of a plus!). As I read more and more about it, I thought “wow…what a bullseye this is!”…but of course, they could repeat the bloodwork and we could find out that indeed his guanidinoacetate level is NOT low afterall (see? I didn’t even have to look it up that time to spell it, I knew I would get better ;)), maybe it was just a one-off. Maybe we won’t be any closer yet to solving our Evy Puzzle…

Or maybe this is it. Maybe this is our final answer. Just maybe…

 

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