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


Laura-Sophia

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. Comments: I am writing to you today because my brother is very very sick he has
    a disease called Stiff Person Sydrome or SPS.  This is a rare neurological
    disease that effects 1 in a million people.  It started about 6 years ago
    with uncontrollable muscle spasms and was diagnosed then as an auto-immune
    disease.  Since then he has had a bunch of different “lets try this”
    medicines and IV treatments but none of them seem to be doing any good.  He
    now has developed Liver Disease and is battling Hep. B. and has to live on a
    diet of Low to no sodium and gluten free.  He has gotten extremely thin,
    but since his liver is not functioning properly he is retaining up to 20 lbs of
    fluid.  He is having extreme pain in both feet and takes a trip to the ER
    nearly every week.  He has been going to the “best in the Midwest” Mayo
    Clinic in Rodchester, MN but it is a 4 almost 5 hour drive so its only once
    every 6-8 weeks that they see him. I really want him to have a Stem Cell
    Transplant but ins wont pay it help

  2. I was seen on 8/11/16 and have been told the Dr. is 95% sure it is SPS. I had been seeing a neurologist for years and I even told him I thought it was SPS only to be told it’s so rare you don’t have it. I have been on the medications for it for about ten years without the official diagnosis. The problems started getting worse and I finally demanded to be referred to another Dr. who almost immediately said SPS. I cried in relief and fear, relief that there was finally a name for the demon that was torturing me. I am still waiting for the “official” diagnosis but it really makes me angry that I went to my neurologists and told him this is what I thought I had yet he ignored me. It is so frustrating and stressful to not be believed by your Drs. They really don’t understand the intense pain involved in this disease. So now I wait, yet in my heart I know, I’ve know for almost five years now. I guess I’m just venting.

  3. I found a good group in Facebook, and does help … SPS is not easy but God is our hope , we are trying to do a fundraising for her HSCT ,here is a link where we can learn a lot about SPS. http://www.thetinman.org/

  4. Adelina says:

    My sister was diagnosed with SPS last month after 15 years of going through lot pain and lots of doctors. She is in the hospital right now back home, she lives in Brazil. Please I mean asking for help , anybody who has this disease and know how to fight please send me any information about treatments and special the stem cell transplant. Thank you

  5. Roseanne says:

    Hi I was just diagnosed with sps. I also have pots I’m also young and just don’t know where to turn for answers since this is such a rare disease. I’d love it if I could contact your sister to discuss her case. If not that’s completely fine and I understand. Thanks for taking the time to post her story and I wish her all the best along with your family.

    • Her sister is a sweetheart. I am sorry you were diagnosed with this disease. There is a lot of great groups on facebook that can help you if you have questions. Be careful, many like to cause drama, so don’t become too involved. Go for information, and try to refrain from the drama that happens. Your body doesn’t need the stress.

  6. GhostyRebs says:

    I’m very sorry to hear of the difficult time your sister has had. I wonder if I have SPS as that description fits me better than any other I’ve read. Who was the second SPS expert you saw who listed?

  7. GhostyRebs says:

    I’m very sorry to hear of the difficult time your sister has had. I wonder if I have SPS as that description fits me better than any other I’ve read. Who was the second SPS expert you saw who listed?

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

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

    • Adelina says:

      My sister was diagnosed with SPS last month after 15 years of going through lot pain and lots of doctors. She is in the hospital right now back home, she lives in Brazil. Please I mean asking for help , anybody who has this disease and know how to fight please send me any information about treatments and special the stem cell transplant. Thank you

      • Adeline, there is many groups on facebook for sps. Be aware some people in the groups are not so nice, but there is a lot of information. My husband had stem cell transplant a year and a half ago. He’s had little improvement, but praying he continues to get better. He is back to doing ivig treatments to help with some of the pain. The groups can lead you in the right direction about different treatment options. There’s even a group for stem cell transplant for sps. I am so sorry your sister was diagnosed with this horrible disease.

  9. “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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