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.

30 thoughts on “Bringing Awareness to a One in a Million Disease: My Sister Has Stiff Person Syndrome”

  1. Yoni Maisel says:

    “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.

  2. 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!


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

  4. 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?

  5. 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?

  6. 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.

  7. 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

  8. 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

  9. Lisa Eklund says:

    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.

  10. Lisa Eklund says:

    Did you ever get a diagnoses?

  11. Lisa Eklund says:

    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.

  12. Adelina says:

    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.

  13. Kim says:

    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.

  14. JAMIE says:

    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

  15. Laura Kassem says:

    It’s true many insurance carriers won’t pay for the transplant. I had that problem for 2 years. However, now that I have the right insurance I’ve been getting the runaround from the transplant hospital. Given the problems with your brother’s liver, he most likely won’t qualify for the clinical trial anyhow. I think Hepatitis disqualifies a person but I don’t have the study protocol in from of me to say absolutely for sure but I’m fairly certain.

  16. Laura Kassem says:

    Oh and Mayo is the best place for SPS. Most neurologists know about it there and it was discovered there back in the 1920s and researched for over 30 years by the first neurologists at Mayo but not published until after their retirement in 1956. I wish I could go back to Mayo but it’s too far and I’m already dealing with the clinical trial process.

  17. Laura Kassem says:

    Hi Roseanne. I didn’t know that this was still active. If you still get notifications you can find me at, where you can leave me a message and then I can decide whether we should go to email after that because I have found that the groups have become totally crazy and am not even in the main groups anymore as a result. Plus it’s as if other SPSers don’t care about raising awareness. They’d rather fight. I’m at a point where I might stop my efforts at raising awareness myself.

  18. Laura Kassem says:

    Hi GhostyRebs. My sister got it wrong about the 1st neurologist. He is a very old man still at the Cleveland Clinic. He did not diagnose me. He said I had idiopathic neuropathy but was young and would get better. I never saw him again as I thought he was a joke making me travel all that way to tell me that. I diagnosed myself from a case on ABC’s 20/20 that sounded like me. My sister agreed and I just saw a local neurologist at the university hospital in my town but when I presented him with the transplant information he became a complete jerk to me after seeing him for 4 years. I never saw him again. Even his boss was a jerk. He didn’t want to see me but once my story went on TV, I got a call from his office to see him that week and he made sure I met every requirement for the transplant but after I came back from Denver, I learned he didn’t want to see me anymore from Denver. I even called his office and just kept getting the runaround and was without a neurologist for a long time. Cleveland Clinic is not knowledgeable in SPS even though they have over 300 neurologists. Mayo Clinic in MN has the most experts but I can’t keep going there. I found a closer solution at a better university than at home an hour away at the University of Michigan. They aren’t afraid to give me all the medications I need like all the doctors I saw in Ohio, which include Cleveland Clinic too. In Ohio prescribing controlled substances is more hardly regulated than in MI.

  19. I am so glad to have found you and your blog. I am a 43yo female, and was diagnosed early this year with SPS and small fiber neuropathy that has progressed to encompass most of the left side of my body. I am currently receiving plasmapheresis as treatment for the SPS, as I had the same issues with meningitis from the IVIG.

    I feel lucky that I have a great neurologist, Dr. Brian Beck, who was the first doctor in almost 10 years to actually listen to my complaints and symptoms and get me the right tests and accurate diagnosis. Before this I had been misdiagnosed with MS, Fibro, attention-seeking, and drug-seeking. The rest of my team of doctors feel fairly useless to me, as they have admitted that they know nothing about SPS. My primary doc at least did some basic research, but my pain management doctor freely admits that he does not know how to treat me, yet will not work with my neuro to establish a helpful regimen of pain control instead of what he thinks I need. It is extremely frustrating to say the least.

    I am actively seeking new studies and research programs for SPS, so if anyone has any info they can direct me to, I would be appreciative.

    I hope your sister is doing well and that she is able to move forward with the stem cell transplant! I can be reached at

  20. Suzanne Ogden says:

    My 76 year old sister was diagnosed with SPS approximately two years ago by the neurology team at Montreal General Hospital, they determined the SPS diagnosis in two months time. Prior to her hospitalization, she was not seeing a medical doctor even though she was having muscle issues and self treating with muscle relaxants for years preceding the fall that triggered her hospitalization. Her symptoms have progressed dramatically and she is in a long term nursing facility and on a regiment of various medications, some of which are causing some negative side effects, however due to the high level of pain she has, there seems to be no alternative meds. She is transported back to Montreal General for a brief time once a year for evaluation. Sadly this rare condition is unknown to most medical professionals, therefore it gets so little attention.

  21. Laura Kassem says:

    Adelina just be aware that the tinman was not written by any doctor but another person with SPS who compiled our information and info from other places. Now if your sister is in Brazil, her best hope might be trying to get on the waiting list in Puebla, Mexico for a stem cell transplant. It’s not the kind of stem cell transplant I am looking to do but you are far away and they are way cheaper than the US.

  22. I am so glad to read others stories and would love for people to share their knowledge and stories on my website

  23. Brittni Kingsby says:

    Hey I’m Brittni and I have SPS too! I started an Instagram account to raise awareness for it. If anyone reading this has it or knows someone you can follow spsawareness and message it to me!

  24. Kara Norton says:

    Hey Brittni, can I get the name of your Instagram account?

  25. Darrel Carriveau says:

    Hi Brittni, my name is Darrel Carriveau and I was diagnosed with SMS in December2017. I’ve had symptoms since 2011, nobody understood what I was trying to tell them, until I made my neurologist watch a video of the Fainting Goats . I told him that this is what it looks like when I fall down. he then ordered some blood work. that is when he realized what I may have . I have just received my loading dose of Gamma Gard (IVIg). had some kind of bad reaction worst headache I had ever had. Thought it was aseptic meningitis. went to hospital results were negative. I’m all good with the headache now but my next dose is March 16 and I’m kind of leary about getting another headache. This is only going to get worse isn’t it. what is the end stage of this disease.

  26. Brittni Kingsby says:

    Hi Darrel! When I was getting my IVIGs (every three weeks for two years!) I also got severe migraines. They would hospitalize me, separate the doses, and slow the drip. They also had to keep an eye on my blood pressure because it would drop to the point that my heart almost didn’t have enough blood to pump. They usually give you Tylenol and Benadryl before the infusion to prevent headaches. And yes this syndrome is a progressive one, so the longer you have it the worse it gets. Also I unfortunately don’t have that Instagram anymore because there was no stories to tell and get SPS out there.

  27. Brittni Kingsby says:

    Hi Kara! I unfortunately don’t have that Instagram anymore because there was no one messaging me stories to tell and get SPS out there.

  28. Brenda Eyre says:

    I have SPS. Confirmed with lumbar puncture GAD65 count off the charts. Spasms are getting worse. My Neuroimmunologist is Dr.Stacey Clardy with the University of Utah Hospital. She is amazing. Do not go on Facebook looking for support groups, most of them are liars saying they have the disease. You don’t need the drama. I wish I could say my prognosis was positive but it’s not. Did all the usual, IVIG, Rituxan Infusions, Plasmapheresis…My Dr wanted to do Bone marrow transplant but insurance denied it, considered it “experimental”. Umm, weren’t all medical procedures once experimental? So, although my oldest son is a scientist for a pharmaceutical company and volunteer Search and Rescue and my other son is graduating from medical school M.D. this year and also volunteer Search and Rescue here I am, I try not to see them because my disease is progressing fast and I don’t want them to see me like this. My German Shepherd is amazing helps me not fall. The GAD65 antibody is attacking my cerebellum. All I want to say is to my fellow SPS sufferers, hang in there. Don’t let ignorant doctors laugh at your diagnosis. Find a good Neuroimmunologist. Not neurologist. Neuroimmunologist.
    Keep smiling, it sucks I know. But smile for me ok?

  29. Alyssa Espinoza says:

    My name is Alyssa, I was diagnosed with SPS 2/14/16.
    My symptoms range/ed from falling, tripping, completely STIFF legs, unable to walk for weeks, muscle rippling, CHRONIC PAIN, severe spasms and cramps through out my body. My breathing will be affected from time to time as well.
    I have been receiving IVIG treatments every two weeks, twice a week; for the last 3 years in June. Will soon be trying Rituxan. UCLA and Stanford patient.
    My local “small town” hospital started me on Dilaudid at the age of 20. From every mixture of an anti depressant for my spasms to every other mixture of pain medication daily for years I was on Dilaudid and Morphine, not functioning because I was so heavily sedated to control my pain. I realized I needed change somewhere and I made a personal choice with the support of my family to try medicinal marijuana.
    I truly wish I would’ve tried it sooner. I’m up and out of my bed, I actually have a little color to my skin now from wanting/being able to walk outside and sit for a bit.
    Life feels like it’s getting back a NEW normal in a way. I still live life very cautiously, but I am making small strides!
    For those who are curious understand there’s a science to it. But don’t be afraid. Make sure to do your homework, I don’t know everything about it but I’m willing to help answer any questions I possibly can! I understand some won’t take this seriously but I hope this may be seen by someone curious about medicinal marijuana for their own journey with SPS!

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