Still Miles to Go

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.

Like many others, my clinical diagnosis was based on my myriad of symptoms as well as lab tests showing hallmark indicators of the disease.  For instance, I had high lactate and pyruvate levels (great indicators for the presence of mito) as well as very low free carnitine and coenzyme Q10 levels.  After the preliminary study for the biopsy came back, we knew I had mitochondrial proliferation.  Mitochondrial proliferation can indicate a diseased process because your body is trying to make up for malfunctioning cells by making more malfunctioning cells.  Still, even with these results, some physicians claim these are coincidental.  Part of me wishes they were.

As I had mentioned a couple weeks ago, my muscle biopsy is back. We finally got to see Dr. Sims to discuss it. We knew it was abnormal because when Kelly (her awesome receptionist) called to tell us it was back and to schedule an appointment, she told us she was unable to give us the results over the phone but that my mito cocktail was now being covered by MassHealth. Previously, MassHealth would not cover the cocktail (we paid out-of-pocket) because I did not have an “official” diagnosis. Kelly went on to say, “I know you two are quite smart and can infer something from the fact that MassHealth approved the medication with the results.”

My first feeling was validation. Ha! I told you there was something there! It most certainly wasn’t “just in my head.” But as time went on, I began feeling dread. Mito is not a diagnosis you want. Sure, it’s an answer, but it’s definitely not a good one. Part of me wished that the biopsy was normal, that it was – as so many doctors tried to convince us, despite a multitude of abnormal tests indicating otherwise – “all in my head.” If it was mental, then there was treatment! Unfortunately, that’s not the case with mito.

Upon my current admission, the biopsy results were not yet in my file.  But physicians were more likely to listen after speaking with Dr. Sims.  Imagine that: doctors listening!    Although we have tried repeatedly over the last week to get to see Dr. Sims and get my results, the weather and her schedule thwarted our efforts.  Because my GI doctors had halted my use of Baclofen (a muscle relaxant), we were beginning to see a huge uptick in the number and severity of my myoclonic jerks, tremors, and hiccuping spells (they will last for hours with no relief).  My hospitalist called Sims to consult and she decided that it warranted a visit.

Keith had gone to walk True and I was shocked to see her so soon.  She quickly dived in.  I am deficient in Complex I.  And not just a little bit.  She explained that because I had a mitochondrial proliferation, the performance of my Complex I at 7% of the mean was actually overestimated because my body has compensated by producing MORE of the mitochondria.  So while a normal person’s single mitochondria would perform at 100%, mine (who are on the multiple buddy system) could hardly muster a fraction of that.  I was told that I likely perform below the 1st percentile, meaning that my Complex I performs better than less than 1% of the entire population.  Furthermore, the laboratory found I have a severe Coenzyme Q10 (CoQ10) deficiency in my muscles.  Because CoQ10 helps produce energy in the mitochondria, this needs to be rectified.  Although I’m already on a high dosage of CoQ10, we will be monitoring levels routinely and likely increasing my dosage.

I was a little taken-aback because I had just woken up and Keith wasn’t there so I didn’t ask half of the questions I wanted.  So everything is still swarming in my head.  I got my answers.  Nothing really changed though.  There isn’t a magic cure.  There isn’t even a solid treatment.  Still, I feel empowered.  I found my enemy.  I know what we’re up against.  And it’s a lot easier to fight something with a name and face.  And that’s what I’m going to do: I’m going to fight.  Fight an ugly monster named Mitochondrial Encephalomyopathy due to NADH dehydrogenase deficiency and CoQ10 deficiency. And this is one battle I’m not going to lose!

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For more information on reading the biopsy, you can see my blog here.  For more information on a Complex I Deficiency, UMDF has a great description here.