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What it’s Not….

November 23, 2013

“There is nothing like looking, if you want to find something. You certainly usually find something, if you look, but it is not always quite the something you were after.”
― J.R.R. Tolkien, The Hobbit

For three and a half of Mary’s four years, her doctors have been talking about mitochondrial disease. During that same time, there have been many other equally, if not more frightening potential diagnoses tossed about. Essentially every three to six months we have a round of appointments with various specialists, and each time they gently explain to us about another way that we will lose her. We have spent much of her life bracing ourselves for her death. Although I have talked about it here in this space, I don’t think I ever realized just how constant and how convincing that shroud of dark uncertainty had been around us. Think of watching a psychological thriller movie and at the end of it, you suddenly realize, only because you allowed yourself to relax a little, that your wrist is aching and your palms are marked by your clenched fingers.

Our team at our local hospital has been amazing. We have some of top doctors in the world working with us. But they are coming up empty handed. And each time a test comes back negative and another symptom pops up, the mutterings about mitochondrial disease begin anew. On paper, if you were to list out Mary’s symptoms, it lines up. But we happen to have an amazing mitochondrial doctor on Mary’s team. And she has said numerous times that she just doesn’t “feel” like Mary has mitochondrial disease. Certainly reassuring, but she can’t point to anything directly ruling it out. And these doctors have been wrong before. And while the doctors have been going back and forth, Mary has been making gains in some areas, but slipping dramatically in others. She is four. I have always said we would stop this hunt once she was old enough to understand what was being discussed. I realized today, we have reached that point.

Today we saw a new doctor in a new hospital in another state. We left Troy and Joyce at home with Daddy and cashed in some hotel points. Mary and I drove out to Cleveland yesterday afternoon. We checked into our hotel and enjoyed a girls’ night out. It was fun. It was needed. This morning, after a restless night’s sleep, we walked over to the Cleveland Clinic, a world-renowned center with some of the best doctors in the world. It was enormous, the campus sprawling over many city blocks….

Our appointment was for a full hour and a half consultation. The doctor we saw had already discussed Mary several times with our mito doctor here. He was prepared for the meeting. He knew what he was looking for. After discussing her development and her regressions, he confirmed what I had long suspected, that when she contracted the chicken pox from the vaccine at the age of 16 months, it likely amplified whatever set in motion whatever led to the series of regressions she experienced. That said, the vaccine itself is not what caused whatever it is she has. But still, it would explain some of what we experienced a few weeks ago after she received the booster doses of the same vaccines – the extreme fatigue, the distractedness, the paleness and lethargy. For now, we will continue to vaccinate because in this case the symptoms appear to be caused more by exposure to the virus than by the vaccination itself, and obviously exposure to the actual virus (as is more likely these days….) would be far more dangerous to her.

After evaluating her sleep issues, pica, swallowing issues and other symptoms, we talked about mitochondrial disease. This doctor, who specializes in mito, who we sought out as another mito specialist, this doctor who likely knows as much,if not more about mitochondrial disease as any other mito specialist in the world, agrees with our mito doc. Mary does not have classic mitochondrial disease. And this is not just a gut feeling. He pointed out the structural abnormalities, the facial features, the hip dysplasia, and the obvious fact that she is doing relatively well right now. I could suddenly feel the air flow back into the room. I suddenly realized just how certain I had been that he would confirm that this sounded like mito. Instead the conversation turned to other possibilities.

He felt like Mary looks like a chid with an Angelman-like syndrome. Angelman’s syndrome has been ruled out, but apparently there are other versions of this genetic syndrome. Another possibility that he brought up was something called glycosylation disease. Glycosylation, as I understand it – which is not much at this point, has to do with how all of the proteins in the body are folded. It would explain shy so many systems are involved. And from my very limited reading on the subject, it has a tendency to stabilize, meaning that if you have survived it as long as Mary has, then it’s more a matter of symptom management. The catch here is in talking via email with her mito doc here tonight, again, she has already been tested for CDGs(congenital disease of glycosylation). However there are many, many variations of this disease and some labs offer more extensive testing than others.

After having already explained to this new doctor that Mary could very likely understand everything we were saying, I was relatively blunt in my questions – well, in code anyway. I told him that we had been told many times that she had diseases like ataxia telangiectasia (which he knew meant a vey limited lifespan). I asked him, “should we be planning for college?” For a second he looked puzzled as he deciphered my carefully coded question. Then, a sympathetic look came over his face as he said, “oh yes. Yes. Absolutely you should be planning for college.”

Our long drive home this afternoon felt more like a long exhale. Suddenly, all the tension from over three years of testing was lifted, if only for a moment… College….. Maybe Harvard… Or Carnegie Mellon…. Or a local school with lots of trees…. I guess we better start saving up. 😉

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4 Comments leave one →
  1. Life&Ink permalink
    November 23, 2013 4:22 am

    Oh I will gladly contribute to this college fund!!!!!!! 🙂

  2. November 23, 2013 4:46 pm

    OH my!!!! So happy she will be ok!! She is so beautiful and I love reading about her!

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