- Posted December 16, 2013 by
This iReport is part of an assignment:
Living with a rare disease?
Ohio Woman Battles Rare One in a Million Disease: Stiff Person Syndrome
- JacqueCNN, CNN iReport producer
Laura Kassem, a 33 year old Ohio woman and former Social Security Administration employee, has a rare disease called Stiff Person Syndrome (SPS). 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 7 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 SPS is unknown, and there is no cure on the immediate horizon. In addition to SPS, Laura has hypothyroidism, Postural Orthostatic Tachycardia Syndrome, chronic urticaria, and unspecified idiopathic peripheral neuropathy.
Before receiving the diagnosis of SPS, Laura had symptoms for several years. She saw physicians in several different fields. Her family physician told her that she would not do any more testing and that she needed to go see a psychiatrist. Laura 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. Laura and her younger sister Sophia came upon SPS after looking at Laura’s medical records and doing a lot of research on the Internet. Laura was not diagnosed until her family found a neurologist who would finally listen to them. Sophia was in her psychiatry residency at the time and had faxed a letter to Laura’s new neurologist about why she thought Laura had SPS. Sophia had asked the new neurologist to order the test that can confirm this disease. Sophia was so relieved when her mother called her after her sister's appointment with this neurologist and told her "He thinks you are right." Obviously, Sophia was not happy that her sister was on her way to getting this diagnosis, but she was happy that they had some answers and that a physician was finally listening to them.
Laura has gone through 2 rounds of IVIG infusion. She ended up with drug-induced meningitis after both infusions and hemolytic anemia after the second infusion. She was able to walk for some time with a cane or walker but is now bedridden. When Laura 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 SPS. Laura 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 hear that she has SPS, as if she is making it up.
Laura has failed multiple medications. Due to side effects and complications from prior treatments, Laura has few treatment options left. Laura’s physicians are not sure what to do for her, and she is not getting any better. She has been bedridden for almost two months and requires around the clock care by family members. Prior to a recent hospitalization, Laura found a clinical trial on the NIH website for a stem cell transplants for patients with autoimmune neurological diseases who have failed to respond to previous treatments. This clinical trial is not funded by the NIH or the National Organization for Rare Disorders. Unfortunately, Laura’s insurance does not cover experimental treatments. The hospital participating in this clinical trial requires an upfront deposit of $400,000 for the transplant. Sophia has started an online donation campaign in order to finance this treatment, which has led to remission of symptoms in two individuals with SPS in Canada. Both sisters are attempting to raise awareness for the rare disease that has been holding Laura a prisoner in her own body. Please help support the Stem Cell Transplant Fund for Laura and pray for Laura's healing.