How we got here from there…

Hi, Warren here. I’m just sitting in our room at Ronald McDonald house and uploading Donna’s notes she has been keeping since we started our trip to Melbourne. What we’re doing is going back to the start and posting information prior to today (Monday the 3rd of November) in the order that it happened.

At the same time, we’ll start adding new information here as it comes up, so please check back through the posts regularly, as some may come in later.

The current situation as we know it is this: The specialists are all but convinced that Alyssa has Glycogen Storage Disease Type 1a. This afternoon, they are taking a blood sample for DNA (genetic) testing to confirm the diagnosis. We won’t know absolutely for sure until these test results come in, but they will take 2-3 months to be processed, they will extract the DNA at the lab here at the Royal Children’s Hospital, then send it to the US for sequencing.

As I say, they’re fairly convinced, they could do a liver biopsy (which was what we were expecting when we flew here) but that’s a rather more traumatic experience for a newborn child than simply having some bloods taken.

Donna is currently visiting with the social worker of the metabolic team, and checking out the genetic health department here at the RCH. I think they are worried that she is not coping, but we’ve been talking a lot and she’s been keeping the journal from which these posts are coming that seems to help her manage the deluge of information coming our way. It doesn’t help that we both miss Tristan and Liam terribly, her moreso since she had already spent a week in hospital before Alyssa came home.

It’s been an emotional rollercoaster, and we are quite literally living 3 hours at a time, structuring things around Alyssa’s feeding schedule and trying to give her every chance to re-learn how to feed properly. We had a few setbacks over the weekend, but unfortunately this is going to be a case of trial and error I think.

The biggest concern is that Alyssa may have picked up an infection here, which is causing her to be disinterested in feeding. Couple that with the fact that she hasn’t had a lot of practice yet and it is very frustrating for all of us.

Today, Dr Boneh, our metabolic specialist, determined that until the possibility of infection was ruled out, they would put Alyssa on a continuous feed pump, to ensure that her glucose levels remain adequate even if she begins to vomit.

Basically, we’re stuck on hold here until such time as they discover if she has an infection, or can otherwise determine why she is so disinterested in feeding.

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3 responses to “How we got here from there…

  1. lusciouslawns

    I didn’t know you were keeping a blog about Alyssa! That is such a great idea. So, do you know if her sleepyness is caused by the Glycogen Storage Disease? How hard will her condition be when she reaches adulthood? I hope you have some answers soon…. I’ve been anxiously following both of your statuses the last few weeks. Now I can read your blog too 🙂

    Thinking of you all!

    Lauren

  2. Thanks for letting us all know.

  3. Hey Lauren.

    we think the sleepiness is caused by an infection (See latest post for Nov 3rd) because since she’s had antibiotics she has started to become more alert. If not, it’s very coincidental…

    Her condition is going to be a lifelong thing for her to manage, but she will have to choose how to manage it – she could opt to have a permanent line into her stomach with a feed tube to pump glucose solution overnight, or she could opt to use cornstarch type drink (ie cornflour mixed with water) which is a starch that slowly digests overnight to release glucose.

    It really depends on how long it takes her to digest the cornstarch, and how much or little glucose she can metabolise from glycogen (glycogen is like a tree of glucose, depending on the enzyme deficiency, there can be either some or no glucose derived from metabolising glycogen)

    The doctors advise that until adulthood, continuous overnight feeding has shown in longitudinal studies to have better outcomes for physical development during childhood.

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