When Doctors Refuse to Diagnose You Because It Won't Affect Your Treatment Plan

I never knew until I was sick that doctors can refuse to diagnose you if the presumed treatment plan wouldn’t change. Insurance companies have been pushing back at testing for conditions which have no treatment. This has the downstream effect of doctors also refusing to test. I ran into this problem twice – once when I asked about a muscle biopsy to confirm myopathic Ehlers-Danlos syndrome and once when several doctors suspected I had mitochondrial disease.

• What is Ehlers-Danlos Syndrome?
• What Are Common Ehlers-Danlos Syndrome Symptoms?

I was able to get genetic testing for Ehlers-Danlos which confirmed I have a mutation in collagen XII. However, I am the only documented person with this mutation so far, so they really don’t know much about it and currently they say that they do not know if it causes symptoms, just that it might. So my current diagnosis is Ehlers-Danlos syndrome and the doctor said I either have hypermobility type or myopathic type.

Although knowing for sure would not change my treatment, it would be helpful 1) to have the additional legitimacy conferred by a myopathic diagnosis, which explains the muscle involvement of my disease and 2) to add to what is known about this very rare subtype. Instead, I am just in a waiting pattern to see if others are at some point diagnosed with the same mutation and if that will, sometime downstream, definitively provide a diagnosis.

I do not have a diagnosis for mitochondrial disease. I think it is likely that I have mitochondrial disease. Three doctors have suggested it. When I overdo, bad things happen. My cognition and speech are affected, my muscles become slower to respond and then sometimes fail completely. My vision gets very blurry. I need sleep to recover, and recovery can take up to two weeks. There is no real treatment for mitochondrial disease. Primarily it is treated with targeted supplementation. But the legitimacy of having the diagnosis is very desirable. And really, I would just like to know. It’s my body. I’d like to be fully informed about what is happening to it.

It will be difficult to get a mitochondrial diagnosis. Specialists are rare. All of the specialists I have found in my city deal only with pediatric cases.

Hopefully over time and with the progress of genetic databases diagnoses will become simpler and easier to access. In the meantime, many people with these rare conditions that don’t have treatments will, like me, be lost in the middle.

Has this happened to you? Share your story below!