I was diagnosed with Langerhans cell Histiocytosis in May of 2016 after a biopsy of skin lesions. I had never heard of this rare disease and the NP at Mayo Rochester who called with results said she had had to look it up and she gave me some basic information. I soon learned much about this blood disorder of myeloid cell origin which affects only 1 or 2 adults per million population. It is more commonly a pediatric disease, although still rare. It can cause lesions on skin, bones, lungs, liver, or spleen. It can also cause problems with the central nervous system.
After a PET scan and other tests and imaging, it appears that mine is skin only. I did test positive for an acquired mutation of the BRAF gene that is found in up to 60% of patients with the disease. I have tried numerous topical treatments, including several strong steroidal ointments and cream, ointment to rev up my immune system and even nitrogen mustard in gel form. Although some helped, all topical treatments eventually, or very quickly caused worse skin irritation that the original lesions. Brachytherapy to affected skin in the groin area caused painful burns. For the last 5 months, I have been taking Hydrea, 500mg and then 1000mg per day.
This has resulted in the best response yet. I still seem to have flare ups and then subsiding of the skins, but much less severe. In June, 2019, a bone marrow biopsy was performed after blood labs had shown low platelet counts and high monocytes over a period of time. I was diagnosed with chronic myelomonocytic leukemia (CMML 0). This is another rare disease that is a myeloid disorder. My best hope is for a slow progression of this leukemia, since current treatments only treat symptoms. There are possible treatments being studied, but not yet available. Having any rare disease is frustrating since there is often very little money available for research because so few would benefit. It is also difficult to find providers who are knowledgeable about diseases so rarely seen! Any others have any experience with these disorders?