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In the depth of winter, I finally learned that within me there lay an invincible summer. ~Albert Camus

Sometimes those of us with chronic illness get so caught up in the can’ts. The shouldn’ts. The mustn’ts. I decided to focus this summer on the things I can do. From embracing the lives of loved ones lost to adventures in lands (not-so-)faraway. So we celebrated, joined, conquered, ventured, traveled, laughed, cried, and smiled. And we experienced life. It didn’t matter that I did most of it hooked up to at least 3-4 tubes at a time. It mattered that I did it.

Now that the summer comes to a close (thank you, labor day), I thought I’d go through the tradition of writing the back-to-school essay “What I did this summer.” Then I rethought. And decided I’d show you.

What I did this summer:

{And wished her Happy Birthday}

{At the 2011 UMDF Symposium in Chicago}

{With my Great Aunt Arden at the Sears Willis Tower}

{Lab safety is a must while tutoring}

{Sisters Day Out – Southwick Zoo}

{First time at Niagara Falls – Maid of the Mist}

{Seneca Falls, NY – With two of my most influential people – On the bridge from one of my favorite movies, It’s a Wonderful Life}

{For the first time since my license was revoked for seizure activity}

{TPN bag, enteral tubes, and all!}

{White Mountains in NH with my favorite in-laws}

{Haven’t attempted this since I was a gymnast – take that mito!}

{At the 2011 Mighty Matthew Benefit in Plattsburgh, NY}

{We love you, Princess Eithene!}

{So blessed to live in Boston, the Medical Mecca of the World!}

{With 4 adults, 2 kiddos, 2 dogs, and a partridge in a pear tree}

{Disappointing from the weather standpoint, but fun nonetheless}

{With a grand closing to a grand summer!}

And no one can say I didn’t do. Because I did. I really did.

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Wednesday morning we set off for our first big adventure in nearly a year. The destination? Chicago for the 2011 UMDF Symposium. The goal is to learn more about mitochondrial disease (you know, that pesky neurometabolic disorder that we can’t seem to shake) and the current treatments and research as well as meet up with members of the mito community from across the country. We’re pretty stoked to say the least.

But it certainly wasn’t easy to get here. First, we had to apply to a bunch of grants to pay for the trip. You see, Keith’s still a grad student and my work hours are few and variable; we just don’t have the kind of money necessary for this kind of trip – or any kind of trip for that matter. Luckily, we were able to get a good chunk of it covered.

After that, we had to coordinate all the medical mess. Because I have numerous medical interventions intended to keep me healthy and happy, nothing is ever exactly “easy.” For one, I’m on 24/7 intravenous infusions to provide nutrition, keep my autonomic nervous system content, and my blood glucose stable. The infusion bags are heavy, bulky, and many. And they have to be refrigerated or the contents will become denatured and useless. Bummer.

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I’ve been home for nearly two weeks now. Recovery has been slow and has sapped me of most of my excess energy so many apologies. Because there’s so much to cover – and I’m having difficulties organizing my thoughts – we’re going to go about this bullet-style.

  • I’m home. I was discharged with a four-week course of IV Vancomycin (a very powerful antibiotic) at a very high dose. Because we never got those sensitivities back (i.e. what bug we’re fighting and what antibiotic is best to fight it) and my reaction to the infection scared them (though I assure you, it did not scare nor surprise me or Keith), the doctors are playing it safe. I guess that’s what they do best. I was also on Cipro (another antibiotic), but I have finished that course.

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Once you choose hope, anything’s possible. -Christopher Reeve

Four months ago I got my muscle biopsy results. It showed severe deficiencies and came with the official diagnosis of Mitochondrial Disease. Although I had lived over a year with a “clinical diagnosis,” it had suddenly become real. Really real. I found myself at a crossroad: I could breakdown and cry; or, I could do something about it.

That night I spoke with my best friend and expressed how I felt. Less than a year earlier, she had had the same conversation with her physicians. She heard those same words: “You have mitochondrial disease.” She felt the reality come over herself. And she chose to fight back.

We spoke for a long time about what we could do. How we could change the future. How we could keep this horrible disease from consuming our every wish and dream. Our every hope.

It was on that night that the Show of Hope was first conceived.

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While inpatient with mitochondrial disease, you’re often an enigma. Most of the health professionals have either never heard of this disease or might vaguely remember it being mentioned back in medical school. And those who have heard of it often have misconceptions (e.g. “all people with mito have some sort of mental delays/retardation” or “mito only affects infants and toddlers”). That’s why I make each and every admission a chance to educate about mitochondrial disease.

Because it’s a complex disease and involves “difficult” vocabulary, it’s easier to describe with analogies. Usually we use the “my batteries don’t work efficiently” analogy, but there are so many other ways to look at the disease. Recently, Chuck Mohan, the CEO of the United Mitochondrial Disease Foundation, made an extensive list of other ways to describe mitochondrial disease. Because it might just help one new person understand it, I’m going to share his list here:

Mitochondrial Disease is like:

  • Replacing your car battery with two Double “A” Energizers and wondering why it won’t start. But your car still looks pretty good, that is until it begins to rust from inactivity.
  • Trying to supply the electrical requirements of Los Angeles (pop. 3.7 million) with the one electrical plant in Ranchester Wyoming (pop. 701).
  • Swimming against Olympian, 8 Gold Medal winner, Michael Phelps, and you’re pool is filled with molasses.
  • That dream you have where you are trying to run away from danger but you just can’t move? Yep, that’s mitochondrial disease.
  • The way you feel after running a 50 yard dash compared to the way you feel after running a 50 yard dash with a 50 pound knapsack on your back.
  • The way you feel after working an 18 hour day or 18 days without a day off. Well, if you had a mitochondrial disease you’d probably feel that way after breakfast.
  • Buying a perfectly good Volkswagen Beetle with a 110 horsepower engine. It’s a great looking car and it runs terrific. Now take out a ring, gum up the valves, add some sugar to the gas tank and put in an old head gasket. The car still looks great but now it will only generate about 50 horsepower. That will get the Volkswagen around the flat streets of Kansas on a spring day, but now load it up with 3 of your hefty friends, or more if they’ll fit, with a trunk full of luggage and take it to the hills of Western Pennsylvania on a 90’ day. It won’t make it! But it still looks great!

For more from Chuck Mohan, go to umdfblog.com.

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It’s hard to describe exactly how I’m feeling.  My emotions are still incredibly complex and difficult to decipher.

For well over a year, I’ve lived with a “clinical” diagnosis of mitochondrial disease, the result of a lifetime of various symptoms and presentations. What does this entail? Many of my doctors felt that my symptoms and test results were indicative of mito. And they were going to treat it as such. Unfortunately, there is a bit of a stigma attached to a clinical diagnosis. Both in the medical field and among other Mitovians (families affected by mito). Physicians don’t take it seriously (no “proof”!) and frequently suggest a psychological basis (either on behalf of the parent or the patient) to explain the multitude of medical issues – despite tests implying otherwise. And the mito community itself frequently scoffs at clinical diagnoses. Despite all the good we gain from the camaraderie provided by the amazing support network of the mito community, there is also plenty of judgment and doubt.  Some diagnoses are deemed “more serious” or “more true” based on the diagnosis method.  It’s unfortunate, but true.

There are diagnoses based on muscle biopsies (these seem to be given the most credence, despite the high false negative rate).  And there are diagnoses based on genetic mutations or deletions (these are usually given a good bit of respect, but have a high false positive rate, because although mutations are present, they may not be expressed).  Finally, at the bottom, we have “clinical diagnosis.”  These are generally symptom-based with a few objective studies and laboratories to back up the decision.  These are often regarded as untrue, made-up, without basis.  And it sucks that patients aren’t given care by doctors just because these clinical diagnoses are not believed.

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As I sit in my room at MGH for the 7th day now – with no end in sight – I had begun to forget that Christmas was just around the corner. I got about halfway through decorating our tree before I went inpatient and I’m not sure if I’ll even get the chance to finish before the holiday is upon us.

Luckily, Keith and I have decided to continue with our trend in recent years and scale the holidays back this year. We’re certainly not scaling back the holiday cheer – oh, no! But we try to walk a different path when it comes to the consumer aspects.

Each year, we hem and haw, stress and spend. And what’s the result? We give our loved ones things. Gift cards that get lost. Trinkets that gather dust. Games that are played for a few months, then forgotten.

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