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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