Where did you get your diagnosis? For over 25 years I’ve had a wide range of pain and other ailments, have gone from doctor to doctor to figure it out. Most just say I need an anti-depressant or to go to Mayo (copout). I came across Gitelman’s and EVERYTHING fits, even lab test done in 2003 which caused a Nephrologist to accuse me of taking diuretics. Armed with the info I found on the Net, I went to see another Nephrologist, but he doesn’t know how to diagnose it. Any recommendations?

I was lucky in that I skipped out on the diagnostic nightmare of Gitelman’s – my younger sister Lizzie was diagnosed before me (and her experience took a similar route to yours, it sounds like) so when I began displaying similar symptoms it was relatively easy to confirm.

Because Gitelman’s is a genetic condition (autosomal recessive – both parents must be a carrier, though not necessarily have the disease themselves) there is genetic testing available to confirm the diagnosis.

I didn’t have this done, instead I was asked to do a 24hr urine test (where they give you a lovely yellow jug to pee into and keep in your fridge for 24 hours) to see how much potassium and magnesium I was wasting. The results of this, combined with my symptoms were enough for my nephrologist to make a diagnosis.

I hope this helps, neither trying to get diagnosed nor living with Gitelman’s is particularly fun, but I do hope that you’re able to find some answers soon.

Feel free to email me if you have any more questions.

(Typically I answer questions privately, but this one came in anonymously so I had to publish it. If you have a question, feel free to indicate if you’d like it answered on the blog or privately.)

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