My older sister Laura has a rare disease called Stiff Person Syndrome (SPS). It is characterized by alternating rigidity and spasticity of the muscles, tremors, anxiety, and a hyper-excitability of muscles. Emotional stress, loud noises, or even a gentle touch can cause prolonged, often severe, spasms. The average time to diagnose the disease is 7 years. A lack of awareness of the disease is responsible for this prolonged delay in diagnosis. The cause of SPS is unknown, and there is no cure on the immediate horizon. In addition to SPS, my sister has hypothyroidism, Postural Orthostatic Tachycardia Syndrome, chronic urticaria, and unspecified idiopathic peripheral neuropathy. My sister had symptoms for several years before she was diagnosed. She saw physicians in several different fields. Her family doctor told her that she wouldn't do any more testing and that she needed to go see a psychiatrist, insinuating that it was all in her head. My sister even saw a neurologist at a top U.S. hospital who is listed as an expert in SPS, but he made no mention of SPS as a possible diagnosis. My sister and I came upon SPS after looking at her medical records and doing a lot of research on the Internet. My sister was not diagnosed until our family found a neurologist who would finally listen to us. I was in my psychiatry residency at the time and had faxed a letter to her new neurologist about why I thought my sister had SPS. I asked him to order the test that can confirm this disease. I was so relieved when my mother called me after my sister's appointment with this neurologist and told me "He thinks you are right." Obviously, I was not happy that my sister was on her way to getting this diagnosis, but I was happy that we finally had some answers and that a physician was finally listening. My sister has gone through 2 rounds of IVIG which caused drug-induced meningitis both times and aplastic anemia the second time. She was able to walk for some time with a cane or walker but is now bedridden. When she was able to walk, she would not leave the house unless it was for work or a doctor’s appointment because she was afraid of falling, which is a common fear among those with SPS. My sister is no longer able to work. She has had numerous emergency department visits due to falls, but there was a point in time where she would not even go to the emergency department after a fall because nurses and doctors would laugh at her when they heard that she has SPS, as if she was making it up. My sister has failed multiple medications. She is currently in the hospital, but is not getting any better. Her physicians are not sure what to do for her. She found a clinical trial through the NIH for stem cell transplants to treat autoimmune neurologic diseases which have been unresponsive to other treatments, but the hospital requires a deposit of $400,000 for the transplant. My sister is a fighter and refuses to give up. Any and all help will be greatly appreciated. Please pray for my sister’s healing. Thank you all. Sophia Kassem
