Stiff Person Syndrome: Want to connect with others

@sheeva888, @ingritamoreno, @johnbishop, and all...Well, you are wonderful! As always, the dear folks on the Mayo Connect site always hear you and reach out with caring and great information and support. Thanks to you...

Since I sent my message asking for help, my son has received a report from his new neurologist, a wonderful doctor who first diagnosed and treated him 10 years ago, after 10 years of horrible medical treatment with no diagnosis and no treatment other than opioids and accusations of drug shopping. Those days left a deep mark on him and he has trouble discussing with doctors openly about his real levels of pain, various symptoms, and emotional issues. He has severe trust issues with the medical field after so many hellish years with no help or apparent caring. He's now back with the original neurologist who's very much up on developments in brain health and treatment. Including possible infusions!!!

The report indicates strong suspicion of Stiff Person Syndrome, with underlying Dystonia and other autoimmune involvement. It all makes sense now. I have several autoimmune diseases that have hit me hard and been challenging...first one is Sarcoidosis at age 40! His Dystonia hit him at age 35! Wow...what a bit of historical insight.

He has ordered a list of bloodwork testing including the ones you've mentioned and others. I've ordered all hospital and doctor records from the past several years and the imaging unencrypted to send to this doctor.
They are advising him to increase gentle activity which was impossible until this month since I helped him taper off Tizanidine and onto Baclofen. What a job, but what an improvement in his movement ability, reduction of pain, control of muscles...and naturally his mental state. Currently, he's on Seroquel for sleep and anxiety, but you are taking diazepam...are you finding it helpful?

His sleep is quite a mess, for many years he woke up screaming with terrifying night terrors and had few nights with peace. Now, with Seroquel and the changes in other meds during the day, he gets several hours of good, restful sleep every night. Also, he has a precious Havanese dog, only 8 pounds, who is his best and only friend. She is truly a therapy dog, helps him relax, and feel loved and they have a friendship, and partnership that works miracles. I'm applying for a therapy dog certificate to make it official and help him take her wherever needed.

He is now walking the dog more often, actually going into our pool now for the first time! After I shared some things I learned from the PT in my therapy pool sessions, he's finding the water and heat a great help. He was attempting to swim in deep water, causing increased electrical currents throughout his body. By holding on with his one usable hand/arm in the shallow end, standing with good balance, he simply walks in place allowing the water to move around his body massaging and doing its thing, and his legs are getting a good workout. He mentioned last night he's feeling stronger, his legs and calves are stronger. It's another miracle...

He's lost 10 pounds, intentionally, in the last 2 months, by improving his eating of course although he eats a well-rounded diet, drinking less caffeine sodas!!!, increased exercise, more general movement even standing and moving while listening to music or watching tv. He's now able to do these things with the med changes!!!

This doctor also addressed my son's several vitamin and mineral deficiencies. His body doesn't absorb B12, B6 is low, D is low, very low Testosterone, low magnesium, and others. He may have some infusions to help with some of the deficiencies and also possible inflammation in the brain. He takes Cerefolin, a superb prescription supplement for low B12 and it addresses other brain issues. It's one of a kind, difficult to get, and quite expensive not covered by insurance...$250 for 90 day supply. We just found the manufacturer and get it for $199. directly from them. Only took a decade...but, who am I to scoff at another miracle. They seem to be flowing into both our lives for several months in multiple areas. I'll be in touch soon after learning more...

Gratitude is overflowing in our lives right now!!!! For you and his new doctors and my doctors and help with his life for the future. I'm so thankful to my God for guiding us to the angels in our lives, helping us so much.
Blessings to you all...Elizabeth

The Stiff Person Syndrome Research Foundation (SPSRF) is a great resource. Based out of Bethesda, MD. Tara Zier sees Dr. Scott Newsome at John’s Hopkins.

Also, you could check out the NIH and NORD websites. As well as searches for medical articles on PubMed and Google Scholar.

I see Dr. Marinos Dalakas at Thomas Jefferson University Hospital in Philadelphia, PA. He is one of the doctors on the foundation’s medical advisory board. He has been studying SPS for a very long time and continues to. He has published many studies over the years.

I am currently taking diazepam, Baclofen, Gabapentin and monthly IVIg infusions in-home (3 days in a row each time). I also use medical marijuana for anxiety and to help take the edge off the pain. I practice my own physical therapy (low impact exercises, stretching, some yoga poses) at home or walk outside when possible. Pool exercises are good in the summer. I find hot tubs, saunas, steam rooms and epsom salt sensory Deprivation floats to be helpful. Of course I have heating pads, vests, and wraps all over the house.

Hi Elizabeth,
I don't know if I could be of much help because I have been recently diagnosed in April this year to be more exact and I'm also looking for more information and learning about this rare neurological disorder.
But I'm happy to share my story with you and others that are also wondering. My diagnosis was based off on a blood test called GAD65, my result was greater that 250 which is considered high. My last symptoms back in March 2023 and what made my primary care doctor suspect I had Parkinson's Disease was the way I walked, my gait was compromised so he referred me to a neurologist and she ordered the test GAD65 and it came back positive. She ruled out Parkinson's, MS or ALS looking at previous MRIs records from December last year that other doctors had ordered because I had double vision for one month.
so my symptoms now are mainly pain on the left side of my lower back, left buttock, left calf and tingling on my left foot oh! and just very recently also pain on my right forearm, of course my imbalance at walking remains and the medications that help me with the pain, tingling and walk around slowly are 10 mgs of Diazepam daily, 2 Baclofen pills a day and one gabapentin 100 mg at bedtime. Of course physical therapy twice a week too and medication for anxiety.
I live in Southern California and I do not have the means to travel to a Mayo Clinic so what I have around me will have to do for now.
The pages that I follow on Instagram are: "Bent But Not Broken" and "Stiff Persson Research Foundation", Tara Zeer and Lea Jabre have great information.
Please feel free to ask me any questions should you have any and I wish you and your son all the best.

Blessings to you too,

Ingrid

@JustinMcClanahan, @johnbishop, @ingritamoreno, and all...I just found your site and your messages by mistake and am so thankful. My son, diagnosed for 20+ years with Cervical Dystonia, is in excruciating nerve pain 24/7 from his neck through his back/left shoulder/left arm which if increased by touch or movement sends horrible electrical impulses throughout his entire body...just received a possible diagnosis of Stiff Person Syndrome. Please help me with information and links to find legitimate sources to help us understand this rare thing, its symptoms and any treatments. He has a Dilaudid pain pump that helps greatly, takes Baclofen which is also a big help, and some other meds for various issues, but how do we address this syndrome directly?

He saw a neurologist at the University of Florida, Gainesville, Fixel Movement Disorder Institute last year who first mentioned this diagnosis, with no follow-up due to her moving to California! We now consulted with a neurologist we found who suggested it may be a legitimate diagnosis and are awaiting his recommendations.

Help, please, with any current information and suggestions. You friends on Connect have helped me and guided me through some quite difficult years and illnesses. I'm praying you can do the same for my son and me now.

Blessings, Elizabeth

Hello @ingritamoreno, like @becsbuddy mentioned, I moved your discussion and combined it with the following discussion:

- Stiff Person Syndrome
https://connect.mayoclinic.org/discussion/stiff-person-syndrome
Here, you can learn about other members' journeys with Stiff Person Syndrome and meet members like @upartist, @speechless623 @maliakajeme @estelatorres and @pattygail,

@ingritamoreno, how are you doing with your diagnosis of stiff person syndrome?

Celine Dion - may be of interest.

Thank you!

@ingritamoreno Welcome to Mayo Clinic Connect. You have found the right place and I’m sure we can help with the answers. I’m going to ask our moderator to move your discussion to the following discussion on Stiff Person Syndrome where you will be able to meet other like members.
https://connect.mayoclinic.org/discussion/stiff-person-syndrome/
How did you find Connect?

Is there any one here with Stiff Person Syndrome?

HNPP - I have HNPP as well. I'm 64 and it first started with numbness at 17 then major numbness at 21. EMG and NCS showed sensory abnormalities, but they were baffled regarding the cause and they just labeled it peripheral neuropathy. They wanted to do a nerve biopsy and my mother said no. It wasn't until my own son had so many neuro issues and they thought he had CMT, but genetic testing revealed it was HNPP. He had nerve transposition surgeries in both arms due to chronic pain and loss of use of fingers 4 & 5 on both hands. Surgery was successful, but has has many issues with HNPP today. My HNPP progressed over the years. I have shooting/stabbing pains, pain with touch in some areas, electric shocks, numbness (makes for loss of fine motor skills), fasciculations, RLS, dizziness, muscle fatigue in arms, legs, eyes. For decades, I've had to rest my phone or book on a pillow to use. Hard to get up from the ground. Legs stop working after a couple flights of stairs. Vision goes blurry easily with eye strain. The real shocker came in 2015 when I was suddenly aspirating everything I tried to eat. I have difficulty controlling the food when I chew and it slips down my throat before I'm ready. Not fun. Stopped eating after 50 events in 3 weeks and lost 25 pounds in a month causing Afib. Thought I had ALS, but two neurologists determined in was my HNPP. Too much chewing fatigues the muscles so I rely on liquid meals a lot. I've learned which foods are most likely to cause issues - lots - and eat with my head down. Eating is a social issue now. I don't eat challenging foods in public so I can focus. Nerves are easily damaged so my face once stayed numb for 9 months after dental work. In 2017, I took a strong antibiotic that did nerve damage and destroyed my sense of smell and taste to this day. My neurologist said it's permanent. Have metastatic breast cancer and was told the chemo for that would leave me in constant pain due to pre-x neuropathy. Using other meds. My heart goes out to everyone with this especially when you see it listed as just a nuisance disease. Most doctors including neurologists have not heard of it.