Neurodegeneration with Brain Iron Accumulation (NBIA) Community

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Our journey to diagnosis: neuroferritinopathy

From wrong diagnosis to right diagnosis. It only took 7 years.

Hello everyone. In 2010 i started having restless legs while lying down for sleep. (Or so i thought at the time). This escalated to my arms and i was hospitalized. Doctors said my thyroid was causing problems and that i have hashimoto's thyroiditis. I was 34 years old at the time. Doctor put me on eltroxin, but over time the tiredness increased and so did my doses. Till i ended up in hospital again with tremors, writhing and shaking of arms and legs. Next i got wrongfully diagnosed with stress related conversion syndrome. This easy way out diagnosis clinged to me though i fought it and kept sticking to my guns and saying that there was something seriously wrong with me. It went well for a while. I has sporadic episodes and ended up in hospital again after i lost control trying to walk, lost my speech completely and blacked out. Doctor thought i had a stroke because of spots on my brain (which my current neurologist showed to cystic spots on my brain). In jan /feb of 2016 i started having episodes of photophobia. I went to a natural healer which after a physical told me to go to my current neurologist. She (my current neurologist) then told us that she wanted to admit me to hospital for diagnostic tests. One of the tests was a lumbar puncture which no one thought of doing in our 7 year ordeal. The results came back that my lumbar puncture was double what it normally should be. The doctor diagnosed me with NBIA. A month later doctor asked me to undergo a new set of testing including liver biopsy and eye tests to check for PKAN. I did not have PKAN so the only other diagnosis left was neuroferritinopathy because i am now 41 years old and all the other NBIA strains are exclusive to children.