2 months old!

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Merry Christmas

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Seizures

I realized this morning that many of you probably don't know that Elianna is having seizures because I haven't said it.
Seizures are a common feature of Zellwegers. Elianna has been having them for sure since we came home from the hospital (and likely before, just no one saw them, it is hard to distinguish in babies, though I did once see what I thought was one).
Sometimes the seizures seem to coincide with the blue episodes/apnea (where she stops breathing), other times not. Her seizures have changed a lot over time too. The current ones have a few different flavours, some where she just looks like she's having a big stretch, some where she flinches repeatedly, and some where they make her cry involuntarily (these are the worst to witness because even though she isn't aware it's still hard to hear and there's not much I can do).
This morning she had a crying seizure at 5am (first time that's happened during sleeping hours) and by 8am she'd had a total of 7 of these crying seizures. That's how I got onto this subject in the first place.
I often go through the day is such a haze I don't have the ability to count how many she's having, because every day blurs together and the rhythm of each day (pump/feed, do a few things before the next one, pump/feed, wash pump dishes and repeat) makes it hard to keep track.
So, today I got a picture of what is going on, since one woke me up and I looked at the clock and then had my alarm for getting up give me a definite time frame to count through. She's had another one as I type this blog post.
She is on an anti seizure medication but we need to give it a couple of weeks to take full effect. So far it doesn't seem to be doing much but we are hopeful it will help.


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roller coaster

As the days go by and I am learning more about Zellwegers through the experiences of other parents, I'm learning one thing. This is a disease that is incredibly unpredictable. We don't know what will happen or when. Peroxisomes are structures within cells that perform part of a cells metabolism processes. This is what makes the condition incurable, it's a not chemical problem, it's structural. There is a host of things that are common in this disease, demyelination of nerves which can effect almost anything, often hearing and vision are impaired, muscle tone and motor development, adrenal insufficiency, seizures and more I can't think of at the moment. The brain was effected in utero and doesn't have all the folds it should. Kids can gain skills and reach developmental milestones and lose them, some even go up and down with skills. It just depends on which nerves are effected and how much and when more demyelination happens.

Most kids with the disease die from respiratory insufficiency/failure.










Elianna's death is no longer as imminent as we first thought it was, but it is still the expected eventual outcome. For the time being she is growing (by that I mean physically, gaining weight) and stable. We are for the time being leading a relatively normal life (if tube feeding and the realities of her low muscle tone, which means she has little to no head control at 10 weeks and can barely move her arms can be called normal), knowing that we will experience a big disruption to this normal at some point in the future. It's kinda like the plans one makes in the last days of pregnancy (only our time frame is unknown instead of a couple of weeks), where every plan is made with the contingency that it could be disrupted by labour and delivery, only instead of anticipation it's dread that we face, because we know it will be hard and incredibly sad when our disruption happens.





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