Who do you see when they can't figure it out?

drjlm

Hi folks,

I'm a 29 year old male that has been seeing a wide range of medical professionals for three years now to try to pin down the cause (and treat) some strange symptoms that seem neurological/neuromuscular in nature.

It started with a feeling of tiredness, twitching, weakness, and dizziness that began after a viral infection but has never really gone away. Recently, I have begun feeling shaky and have a mild hand tremor. Cold, stress, and alcohol seem to make the whole situation worse (I now try to avoid all!).

Lab-wise, I have a consistently slightly elevated creatine kinase (250 - 365 u/l) - once 2,659 post-workout but EMG was normal. Unconjugated bilirubin and uric acid are also slightly raised.

The neuromuscular specialist I saw was totally disinterested as both my neurological exam and EMG are normal and apparently so long as the tremor doesn't interfere with day-to-day life there's nothing he can do (ie side effects outweight possible benefits of treatment).

An endocrinologist that referred me onto him was more helpful and discussed metabolic/mitochondrial myopathies but wanted to push me to the neuromuscular specialists and doesn't seem to want to see me again. A muscle biopsy was discussed (by the endo) at one point but I obviously need an interested doctor to order one.

I'm just wondering where to turn to in this situation.

My family doctor is obviously out of his depth in this and has done everything in his power to help and I've seen all the major neurologists in my area that I can afford to at this stage (that's only two!). I've thought about getting genetic testing done as it seems to play a big part in the world of 'inborn errors of metabolism' and such diseases but I don't believe there is such a specialty in medicine.

So where does one go when the doctors seem to think there is something wrong but have no idea what? Sorry if this is an all-too-common dilemma around these parts and I'm repeating what's been asked before.