Stiff Person Syndrome: Want to connect with others

Can anyone offer suggestions on getting officially diagnosed and to see a specialist in this area? Maybe share your story? My primary care is clueless about this when I have brought it up to him but agrees, I have all the symptoms. I live near Johns Hopkins and can easily get there but it is impossible to get an appointment with neurology. My symptoms are progressing and am afraid I will loose mobility in both legs soon (already have in one). Time is not on my side. My primary care has just been treating symptoms with pain medicine for years. Never the cause, as it just continues to get worse.

@mdllama
If you want to chat and are open to possibly coming to a neurologist in Philadelphia I can try to assist you. Are you on LinkedIn?

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.

Is there any one here with Stiff Person Syndrome?

@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?

Thank you!

Celine Dion - may be of interest.

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?

@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

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