Nate Milam II, Patient Advocate for the Histiocytosis Association, discusses his diagnostic odyssey with histiocytosis.
Histiocytosis is a rare hematologic disorder characterized by the overproduction of histiocytes, a type of white blood cell. In people with histiocytosis, these cells multiply excessively and build up in certain areas of the body, causing granulomas. The condition primarily affects children, but is also found in adults of all ages. The symptoms of histiocytosis vary from person to person, depending on the areas of the body affected. The granulomas may impact many areas of the body, including but not limited to the skin and nails, mouth, bones, lymph nodes, pituitary gland, and thyroid gland. The cause of this disease is unknown. In about half of the cases, genetic changes in the BRAF gene appear to be involved.
The Histiocytosis Association focuses on raising awareness of the disease and striving to forward treatment and research. Currently, there is only one treatment, cobimetinib, approved by the U.S. Food and Drug Administration for the treatment of some forms of histiocytic neoplasms.
Mr. Milam was misdiagnosed with Chron’s disease at seven years of age. After years of treatment and surgeries targeted for Chron’s, he went septic at the age of 19. This led to doctors ordering genetic testing, where it was discovered that his proper diagnosis was histiocytosis, specifically hemophagocytic lymphohistiocytosis (HLH). Because the disease had progressed so much by that time, Mr. Milam’s best treatment option was a bone marrow transplant, typically only used in extreme cases. This experience led Mr. Milam down the road of patient advocacy where he spreads awareness for histiocytosis so that others do not have to go through the same difficult diagnostic odyssey.
To learn more about histiocytosis and other rare hematologic conditions, visit https://checkrare.com/diseases/hematologic-disorders/