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.

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