Bringing Awareness to a One in a Million Disease: My Sister Has Stiff Person Syndrome

Story Hero: Laura
Location: New Albany, OH, United States
RARE Condition: Stiff Person Syndrome

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.

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Global Genes Comments

  1. This is the website for my gofundme campaign to raise money for a stem cell transplant for my sister:

    http://www.gofundme.com/56b35g

  2. “I asked him to order the test that can confirm this disease.” I love how the family took charge in the situation, did research, and said “please do the tests.” I have a primary diagnosis of CVID and a secondary of Sweet’s Syndrome. The Sweet’s diagnosis went undiagnosed for about 15 years. I too did some research and new what it was despite doctors telling me for years that the characteristic sores were mosquito bites. One day I went to the doctor during a severe breakout and said “I’m not leaving until you do a biopsy. I know what it is!” i was right.

    I am glad that Laura finally got her diagnosis…it is the first step in beginning the fight; knowing what you are dealing with! I wish you all the best – health, happiness, and longevity.

    BTW – I get IVIg treatment monthly for the CVID and also had Aseptic Meningitis as a result. After the fourth treatment it got better – to the point where the infusions now go much more smoothly.

    • Yoni, I am glad you advocated for yourself and were able to find out what was causing the sores. Patients often have to be their own advocates, especially when they have a rare disease. I am glad that IVIg has worked out for you! Best wishes on your journey with CVID and Sweet’s Syndrome!

      Sophia

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