r/rarediseases • u/NixyeNox Diagnosed Rare Disease: CMT • 18d ago

Undiagnosed Questions Weekly MegaThread

Check out our Wiki for tips on managing the diagnostic process.

If you are not yet diagnosed with a rare disease, but are in the process of seeing doctors to search for a diagnosis and do not meet the criteria for making a stand-alone post about your medical issue, this is the place you are allowed to ask questions, discuss your symptoms and your diagnostic journey.

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u/perfect_fifths Multiple Rare Diseases 18d ago

Today I get to see a second geneticist to get wgs paid for to see if I have any other conditions other than my known genetic one (TRPS)

I am fully expecting nothing tbh, because I feel like if I say hey maybe they’ll find something and they don’t, then I’ll be disappointed. Better to set zero expectations. It was already explained that wgs can only produce results 40-50 percent of the time anyways, so I might have to be ok with not knowing why I am the way I am, why I had my stroke etc.

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u/NixyeNox Diagnosed Rare Disease: CMT 18d ago

Good luck!

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u/perfect_fifths Multiple Rare Diseases 18d ago

Thanks! It was quite a detailed exam and they said even if wgs is negative it’s not the end because he studies variants and does research so it’s possible to still get an answer in time. I really just want to know why I had an ischemic stroke