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September 15, 2013

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I’m not sure where to start.

A lot has happened this week. Some things have left me filled with enormous gratitude, while others have knocked the wind right out of me and made me question whether or not I am strong enough for this journey. And others, have just left me feeling alone.

Last week we met with Mary’s neurologist. You can read a little about that here. Basically she gave us the results of Mary’s full exome sequencing, and we poured over research papers describing the gene in question, trying to determine if it was finally the answer to the puzzle. It looked like a lot of pieces were lining up. It looked as though this might be at least a clue. But it didn’t explain everything. There were too many unknowns. And by the time we saw Mary’s genetics team, they had determined that this just wasn’t the answer. For a week, we had a diagnosis. For a week we had an explanation for some of what we were seeing. For a week, we had an explanation that did not involve mitochondrial disease. But now, we’re back to the beginning. And the conversation has come back to mito.

A consensus appears to be forming. How this can be so difficult to diagnose is beyond me. Yes, I understand the science behind it makes a firm diagnosis elusive. But all the tests, all the specialists, the consensus is growing. It looks more and more like mito each day, especially when they can’t find anything else. It is disheartening to say the very least. I cling to the “vibe” that her neurologist just isn’t feeling. That this mitochondrial specialist just doesn’t see her as a mito patient. I want to believe that. I want to believe that forward progress will continue. I want to believe that she will have every chance at a full life with no more major regressions. But it’s all starting to add up. There are so many systems involved now in whatever Mary’s condition is. She is doing well though. She is learning, growing, smiling. As long as we carefully manage her routine and watch out for potential landmines, like germs and overheating, she does great. So this can’t be mito, right? Her genetics doctor appears more concerned than ever that it is, and realistically there is this nagging feeling in the back of my mind that she is right.

In the midst of all the uncertainty, another research group has offered to take a look at Mary’s case. They are among the very best at what they do, and I can’t tell you what it means to me to have someone else step forward to even consider helping my girl. It is as though an enormous weight has been lifted. A fresh set of eyes to go over the clues that we have accumulated. I attempted to type out my gratitude to them over email, but it quickly became difficult to see the keyboard through the tears of relief. Thanks just isn’t a big enough word. Just by offering to look they have given us back a bit of hope that we might find an answer to all of this.

While I know there is a good chance that they will not be able to help us, that all the testing that could possibly be done has already been done, just to have someone else verify that… That would be something. Because right now I feel like we are just running in circles, and the clock is ticking. If this is mito or something else, I fear that she will deteriorate before we can start any kind of treatment. We are already seeing more choking and aspirating incidents. Her eyesight has gotten worse…. Things are changing. Whether this means regression, or just that she is shoveling her food too fast and choking, and her eyes are just evening out a bit, I have no way of knowing.

There is no cure for mito, but there are various combinations of vitamins that have been shown to help, depending on the type of disease. If I knew, I could be giving these to her…. I could do something, before…..

Editor’s note:

Today marks the beginning of mitochondrial disease awareness week. Whether or not Mary has mito or something else, the families already living with this diagnosis deserve your support.

“Every thirty minutes, a child is born who will develop a mitochondrial disease by age 10. Most of these affected children will not survive beyond their teenage years.”
– United Mitochondrial Disease Foundation

This is an invisible killer and because the diagnosis is so elusive, there just isn’t enough funding for research – the kind of research that can save lives. Lives like Mary’s.

Below is a brief explanation of just what mitochondrial disease is. Many family and friends have been asking, because it is not commonly understood disease – hence the lack of funding. One good explanation I have heard is, imagine trying to run your whole house on one 9volt battery. But here is a more official explanation from the UMDF’s website:

Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.

Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.

Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.

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2 Comments leave one →
  1. Life&Ink permalink
    September 15, 2013 5:14 pm

    I feel compelled to say that I am sending you a huge hug for there are times when words just don’t seem to be enough, when they can’t do what the comforting touch of another person can do. Thank you too for the info from the website, as I was reading the post I found myself wanting to know more about Mitochondrial Disease. I wanted to know more about what you might be facing and what Mary might be up against. My thoughts and prayers go to you and your family.

    • September 15, 2013 5:23 pm

      Thanks Charlotte. It’s important to point out that she has NOT been officially diagnosed with this yet… Not sure if it’s more important to tell that to readers or to myself… It’s just been a heck of a week here. Thanks for the hugs. xoxo

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