
▲ 6 r/rarediseases
Nieman-Pick C1
I am almost 30 and use a cane full time. I have had horrible health issues since I was about 14/15 years old but not a single diagnosis. I did a few commercial tests and paid for my results to be read privately. What can I say/do to help my doctors listen to me and test me? I carry 2 mutations on chromosome 18 and they read as pathogenic.
u/Desperate-Trash7604 — 5 days ago