Is anyone familiar with Gorham-Stout, also known as Disappearing Bone Disease?
GSD (Gorham-Stout Disease) is a vascular anomaly thought to be an error in the development of the lymphatic system. As bones are routinely broken down, they are replaced with lymphatic vessels and a fibrous band of connective tissue instead of more bone. Also known as Vanishing Bone Disease, it is listed in the international directory of rare diseases (https://rarediseases.org/rare-diseases/gorham-stout-disease/ and https://www.childrenshospital.org/conditions/gorham-stout-disease#:~:text=How we care for Gorham-Stout disease).
Up until recently, it was thought to be a disease found exclusively in children, but now that more adults are reporting having symptoms, there is thought that it might even be a form of osteoporosis. Signs of the disease can vary, but for me, it first manifested as small divets or depressions in the skull I could feel with my fingers that grew larger with time. I wore hair extensions for years and thought it might have been caused by that.
My current understanding is that the diagnosis cannot be fully confirmed without doing a skull biopsy, and this is a high-risk procedure that often results in ongoing cerebral-spinal fluid leakage. It is discouraged by the doctors I have seen. Right now there is no known cure for Gorham-Stout. Current therapy is experimental and consists of a combination of bisphosphonates, interferon and an immunosuppressant drug called sirolimus. All have disturbing side-effects that seem - at least at this point in my situation - potentially worse than the disease itself. I personally have a poor tolerance of bisphosphonates, and my mother, in fact, died as a direct result of her taking Fosamax.
If anyone has knowledge of this disease and any recommendations or referrals for me to contact I would be extremely grateful. Any information at all would be helpful. Thank you.
