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November 2, 2013

“All you need is love. But a little chocolate now and then doesn’t hurt.”
― Charles M. Schulz

We’ve had some news this week and I’m not quite sure what to make of it. My mind is racing, and once again I am searching through literature trying to make sense out of the latest round of test results. Once again I am waiting to hear back from researchers literally around the globe who I have been talking to, trying to pinpoint an underlying cause (and hopefully some sort of roadmap) for all of Mary’s symptoms. But now, we have a new one to add to the list.

We saw endocrinology last week. It was supposed to be simple, but like so many other times when the genetics team has requested a consult, it didn’t end up that way. Over the last few years we have had multiple metabolic panels, glucose tests, thyroid function tests… All of it has always come back completely normal. This, whatever it is, is not metabolic. In some sense, metabolic would be good. Metabolic could be treatable…..

So last week they ran another round of tests (to follow up on some other tests). My heart breaks for her every time they have to draw blood from her. And then, this week they drew still more blood to follow up on the results from last week’s tests.

After years of testing, suddenly her thyroid is not putting out enough thyroid hormone. There appears to be nothing wrong with her thyroid. The problem is actually that her pituitary gland, which is located in the brain and controls many other glands as well, is not doing its job by telling her thyroid to put out more hormone. So now, we have a new development. A new system is involved, and it just so happens to be the endocrine system (which is very often affected in mitochondrial disease). All by itself, this is relatively simple – they give her a pill once a day for the rest of her life that will replace the missing thyroid hormone. It might even help with some of the fatigue – at least I hope it will. But since it had always been normal before and she still had such fatigue then, I am not sure if it will help much…. In terms of the larger picture, I’m not sure what to think.

This is something that has developed. Which means that whatever disease process she has is progressing, and we still don’t even know what that is…. Or what is next… In some ways it looks like the final piece to the puzzle. The endocrine system was one of the last two major systems in Mary’s body that had been left unaffected…. Before this little piece fell into place, I had moments where I could talk myself out of the thought that she has mitochondrial disease. That it is something else, and all this therapy that we are doing will mean independence for a long, healthy life. That we could manage it. That she would continue the forward progress she has fought so hard to make…. It’s harder to reason myself out of this now. This looks more certain…. But I’m not a doctor. I’m not even a researcher. I’m just a worried mom who reads a few too many science journals. I could still be wrong. I’ve never wanted to be wrong so badly….

Add to all of this, Mary has struggled over these last two weeks. Despite her enormous progress in her physical therapy sessions, she has been…..just….. off everywhere else. That terrible fatigue has returned. She has become very pale. Nervously, I had her doctors repeat a CBC (complete blood count) to make sure we weren’t seeing a sudden drop in her red blood cell counts. The nurse who read off her results to me this morning was alarmed – the count was low, but I knew it was the same low that it has been. So she’s okay there… For now….

Any other kid could have an off week, and it would be okay. But with so many things to track in her, so many symptoms to manage, we have to jump at every change. It’s exhausting, and scary. I got called just fifteen minutes after dropping her off at school the other day to come pick her up. She has been having enormous difficulty with fatigue in school for the last week. Last night she trick or treated at just two houses from her stroller before the fatigue of just being out in the cold became too much. It was difficult to watch. Fortunately, she was able to get some Halloween fun in at her school the night before, but even that was difficult for her. And so yesterday, when I had trouble rousing her in the morning, I opted to keep her home. To give her a day of nothing. A day of resting with her Mickey Mouse dolls in her room. A day with no expectations. And I think it helped her. She seemed happier in the evening. She even dug into some of her hard-earned Halloween candy. (I think she has decided that Kit Kats are her favorite – she gets a stick of chocolate for each hand. 😉 ) She is still so pale though. I’m not sure what to make of that. I’m not sure what to make of any of it.

It’s weeks like these, when she suddenly looks so fragile. When I am suddenly reminded of the fears that I try to keep quarantined in the back of my mind. These are all clues to a mystery. We are getting closer to the answers…. and I’m not so sure I want to know what they are….


Trick or Treating at Mary’s School

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