My 33 year old sister Laura has a rare disease called Stiff Person Syndrome. It affects only one in one million individuals, worldwide. It is considered a neurological disease, but it is often classified as an autoimmune disease, characterized by alternating rigidity and spasticity of the muscles, tremors, anxiety and a hyper-excitability of muscles. Emotional stress or even a gentle touch, are known to cause prolonged, often severe, spasms.
The average time to diagnose the disease is seven years, and misdiagnoses during this period include anxiety or adjustment disorder, phobia, multiple sclerosis, dystonia, fibromyalgia, Parkinson’s Disease and psychosomatic illness. A lack of awareness of the disease is responsible for this prolonged delay in diagnosis.
The cause of Stiff Person Syndrome is unknown, and there is no cure on the immediate horizon. In addition to Stiff Person Syndrome, 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, including allergy and immunology, cardiology, rheumatology, orthopedic surgery and neurology. Her family doctor told her that she would not do any more testing and that she needed to go see a psychiatrist. My sister even saw a neurologist at Cleveland Clinic, who is listed as an expert in Stiff Person Syndrome, but he told her that it was rare and she did not have it.
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 Stiff Person Syndrome. 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 two rounds of IVIg and ended up with drug-induced meningitis both times. She was able to walk for some time with a cane or walker but is now almost 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 common among those with Stiff Person Syndrome.
My sister is no longer able to work. She has had numerous emergency department visits due to falls, but she doesn’t even go anymore after a fall because nurses and doctors laugh at her when they hear what disease she has. They think she is making it up because they have never heard of it. My sister has failed multiple medications. She found a clinical trial through the NIH for a stem cell transplant, but is waiting to hear if insurance will help to cover the cost. If insurance will not help to cover the cost, the hospital requires a deposit of $400,000 for the transplant!
I am a doctor, but I feel like I am able to do so little for my sister.