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August 30, 2013

“I have heard there are troubles of more than one kind. Some come from ahead and some come from behind. But I’ve bought a big bat. I’m all ready you see. Now my troubles are going to have troubles with me!”
― Dr. Seuss


Editor’s note: the following is a lot of me blowing off steam, and as such, it is not grammatically correct, or well-written. There are also many run on sentences. But sometimes it’s just good to scream into cyberspace at night when the kids are sleeping. Apologies in advance for the lack of editing. 😉 Thanks for listening.

I talked to the genetics department yesterday. Those crystal ball tests are back. Except there’s no crystal ball. The results of the genome sequencing were inconclusive it seems. The doctors are asking the lab for an expanded report so they can go over the results themselves. Apparently, all they found was a “variance of unknown significance.” When I pressed our new genetics counselor for more information, like, oh gee, I don’t know, where is the variance? She confessed that she could not elaborate more because she had misplaced Mary’s chart. Awesome. (Note sarcasm).

To say I am frustrated would certainly be an understatement. I am angry. I am fuming. I am searching fervently for a new center, a new team of doctors, someone who may have some clue as to what is happening with my girl. But after going through a series of emotions, pacing nervously waiting on hold with the genetics counselor, angrily explaining to her how all of this was unacceptable, and then spending my evening going back and forth between sulking in frustration and researching other options, I have realized that anger is a much easier emotion for me than fear. And potentially a more productive one.

There is too much riding on this to sit still. I am fully aware that none of this is necessarily anyone’s fault. They may very well be doing their very best. But at this point, their very best just isn’t good enough. I need answers. I need to know what we should be watching and what we can let go. I need to know if I can plan a future for my sweet girl and what kind of future that might be. And maybe it wouldn’t feel so urgent if they hadn’t been pulling us in all kinds of directions. First, she’s dying, then she’s fine, then it’s mito, then it’s not, then it’s progressive, degenerative and, as usual, fatal, and then, oh wait, she doesn’t have that either….

In the meantime new symptoms keep cropping up, like the moles in that old arcade game, and not knowing what is causing all of it, we are forced to deal with them separately. The low functioning immune system means we’ll be quicker with the antibiotics, the hearing loss means hearing aids and deaf education, the worsening eyesight means constant eye doctor appointments and new glasses three times a year, the heat intolerance, the cold intolerance, the macrocephaly that is, despite a previous scare, not hydrocephalus, but we do have the beginnings of a chiari malformation, which apparently means a whole lot of nothing, the elevated alpha-feta protein indicating liver cancer that just isn’t there, the unexplained anemia, the neurological symptoms, the autism. Whack, whack, whack. Doctors, therapists, researchers, teachers, all working separately, each on their appointed mole. Nothing is coordinated. It all hinges on this test. On this “variance of unknown significance….”

And I feel helpless. I feel like the answer is right there now, but the biggest brains around me just don’t know what to make of it. But feeling helpless is too much like feeling fear. I’ve lived there for too long. It accomplishes nothing. And so for now, as far as the medical professionals go, I’m going straight into IEP mode. If they can’t provide what my girl needs, I will find someone who can. I’ve already started asking around among my “real life” friends. We are going to be gathering our records and hitting the road. I have a few good places in mind. Feel free to add your favorites to the list. I am open to suggestions. But I am done cowering in the corner waiting on someone else to help us. Because sometimes, anger just works better than fear.

4 Comments leave one →
  1. therocchronicles permalink
    August 30, 2013 5:05 am

    Keep pushing, keep asking, keep following your gut. It sounds like you are on the right path in searching for new members for the team. And yes, often anger is the spark that sets things in motion–it definitely works better than fear.

    • August 31, 2013 2:32 am

      It is already moving the doctors a little faster in terms of their analysis. They’ve moved up our appointments and I have one awesome nurse who’s holding their feet to the fire on this for me…. Here’s hoping!

  2. August 30, 2013 5:58 am

    I wish I knew who the best professionals were 😦 We work with the Center for Special Needs at Floating. I have had great luck withing with Floating thus far despite having been uncertain as I had no idea of their reputation. I’d always associated Childrens with the best care out there in Boston. However, we’ve run into weird issues with various admin staff just being daft, so I can’t say it’s all without bumps.

    Answers… I hope you have them soon and in the interim, I hope sanity prevails and a clear plan comes into focus to take the medical community you’re involved with to task. If they can’t help you the least they can do is help turn you towards people who -can-. You and your family deserve a clear course of action not “maybe this” or “possibly that”. Meanwhile I hope you all can enjoy a little bit more summer. Answers or no, life’s still here and there’s good days to enjoy… or crappy dismal cool days that make you scratch your head (it was only 62 or something today, what was that?!). Let’s hope we get more of the good ones 🙂

    • August 31, 2013 2:43 am

      Boston is definitely on my short list. Since my family all lives up there, I was always raised to believe they were the best! The hospital here is decent, but maybe not as great as their reputation. It’s not entirely their fault. A lab in California wooed them into trying them out, so Mary was the first one they decided to sequence. Actually, she was the very first sample they ever sent out for exome sequencing ever from our Children’s Hospital. The doctors are frustrated almost as much as I am. But I’m thinking if we don’t get any answers out of this, we may need to be talking to some folks who have a bit more experience in interpreting these tests…. The problem is figuring out just who that might be. I will definitely look into Floating – I hadn’t thought of that one. My mind went right to Children’s when I thought of Boston. Thanks!

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