Celine Dion - Stiff Person Syndrome

[hapl808]

Saw that Celine Dion was 'diagnosed' with Stiff Person Syndrome. I put it in quotes, because like many things I feel like these diagnoses are dependent on your neurologist more than anything objective.

I've looked at SPS before since I have all the symptoms, but seeing as muscle relaxants and avoiding triggers seem to be the only treatments, I didn't really find it relevant to get a diagnosis. Although I did find it interesting that no one ever suggested it among the four neurologists I've seen, along with multiple rheumatologists. (I found out about it several years ago looking at Myhill's website.)

My feeling is the SPS sounds exactly like a form of EDS combined with ME/CFS. What's the difference between non-hypermobile EDS and SPS?

Anyways, it sounds like she's just doing physical therapy which will either help her or it won't. My guess sadly is that it won't, because there are too many demands on someone like that's time and physical energy, and PT for SPS seems pretty much guesswork at best. She may be able to partially recover if she's willing to give up the life she had before, but if she chases that life it seems more likely that she'll just crash again.

Ah well.

 

[Gingergrrl]

Saw that Celine Dion was 'diagnosed' with Stiff Person Syndrome.

Wow, I had not heard that and want to Google it and learn more.

I've looked at SPS before since I have all the symptoms, but seeing as muscle relaxants and avoiding triggers seem to be the only treatments

SPS was one of the diagnoses that doctors were looking at in my case, too, back in 2016 b/c I tested positive at high levels for the Anti GAD65 autoantibody. But they did not think it was my diagnosis b/c I had progressive muscle weakness vs. stiffness/spasms. They ultimately thought that my Anti GAD65 autoantibodies related to my other issues w/Hashimoto's & Dysautonomia instead of SPS.

I also tested positive for calcium channel autoantibodies (LEMS) which was a much better match with my symptoms. They said that immunotherapies (in my case high dose IVIG & Rituximab) would be helpful for all of my autoantibodies. I remember researching it and they do use immunotherapies for SPS so I wonder if Celine Dion may try them in the future?

Although I did find it interesting that no one ever suggested it among the four neurologists I've seen, along with multiple rheumatologists.

Were you tested for Anti GAD65 autoantibodies? You have probably already told me but I forgot! I was tested when I did the other Mayo Panels and then later again with Quest (and positive with both).

 

[hapl808]

Were you tested for Anti GAD65 autoantibodies? You have probably already told me but I forgot! I was tested when I did the other Mayo Panels and then later again with Quest (and positive with both).

I have not been tested for it. I had a bunch of other useless Mayo panels that told me nothing (carnitine profiles, etc). Unfortunately blood work seems to be a trigger for me, which makes it more difficult.

It is interesting that IVIG seems helpful for kinda everything, and seems like more people should be getting it.

Sadly there's an incredibly dense article in New Republic today that basically reframes Long Covid and ME/CFS as just psychosocial disorders where maybe people just need some exercise and better mindset.

Ah, the more things change, the more they stay the same.

 

[Rufous McKinney]

Sadly there's an incredibly dense article in New Republic today that basically reframes Long Covid and ME/CFS as just psychosocial disorders where maybe people just need some exercise and better mindset.

thats why private companies spend their $8M dollars studying a pill for us.

or Dr. Davis commits the last twenty years to examining this topic, because he has nothing else to do.

Or six to ten major research facilities exist, studying us. Are those researchers confused?

 

[hapl808]

Are those researchers confused?

Maybe the researchers are just sad? Have they tried losing weight or exercising more?

 

[keepontruckin]

if there is some truth in some autoimmune disease having me/cfs she could have variations of that too. eg fatigue body reactions to anxiety, gut issues etc

 

[Nord Wolf]

Yet another disease I had never heard of. I managed to watch an interview yesterday with Tara Zier, the founder of the Stiff Person Research Foundation.

It sounds like she had the same BS experiences as most of us here with the medical field.

 

[lenora]

I feel that I have something to offer re: Stiff Person Syndrome (herein SPS). Many years ago my sister in Flagstaff went to the Mayo Clinic in Phoenix looking for answers to the many problems she was experiencing. Most were different than mine....but I did know where to send many people and at that time, the Mayo wasn't the best. I have no idea of its reputation today....it's supposed to be improving.

I sent her over to the Barrow Neurological Hospital in Phoenix. The work done there was on the brain only (or was at that time). She was seen and interviewed by a team of 20 doctors. In the meantime, and before that even my neurologist here had already told me it sounded like Stiff Person Syndrome. He had one patient only with it. At that time, the only treatment for it was Xanax, increased as necessary. This was b/c if the patient was startled, spasms developed and they were extremely strong....strong enough to cause fractures. I don't know what ever happened to that particular patient.

So, probably a year or more later, Barrow decided that Kate probably had SPS and a no. of other problems. Finally, a diagnosis that made sense was made and she was provided with multiple meds (she had other problems also), couldn't walk and had to have a wheelchair and in the end, one Dr. didn't feel she had SPS. She certainly had all of the symptoms, but this hold-out prevented the diagnosis of SPS being made. She never seemed to have ME.

During this time, like me, she had multiple other problems....heart disease, COPD (which I don't have...but she was a smoker and lived in a high altitude), tinnitus, dizziness and severe circulatory problems. I'll fast forward as much as possible.

Kate was incredibly ill, yet b/c of the meds used to visit me often with her husband. She was on oxygen, had gone to PT enough to learn how to walk again, with a walker) so she could complete her dream of going to the Scandinavian Countries. Extremely independent individual.

She did go and spent 2 wks. there with her husband's help. She suffered worse than just about anyone I've ever met...most people with SPS never leave their houses b/c of the noise and how it affects them alone.

Sadly, she was down to about 80 lbs., if that, and developed gall bladder problems. She was kept in a coma and died. Her husband and daughter were shocked, but as I told them...her body was way too weak to withstand another surgery (she'd had many at that point).

As I write this, her husband recently visited me with his new "friend" then wrote to tell me that they'll be marrying next week. It's fine, it has been 3 yrs., and we'll stay in touch. Still, losing her was and is so difficult. We spoke everyday...and she was a good 5-6 years younger than I am. I've now lost almost all of my brothers and sisters and there were 9 of. All were younger, some much younger. One is now in hospice as I write.

Celine Dion is a person who pushes through and will have access to the best of medical care. Her case is ultra-interesting to me and yes, it did take a long time for her to find a diagnosis. She strikes me as a strong-willed person who, as puts it...."Knows only thing, and that's singing and making people happy." She'll be a spokesperson for SPS and that's what we're still lacking.

Jennifer Brea tried and was successful with her film, however she's still recovering from CCI surgery and COVID. Famous people have been affected by our illness, but they aren't willing to come forward as spokespeople. They give large amounts for research and I hope that has continued. I don't know. Also, this illness is unpredictable as to when exhaustion will truly be worse.

I'm sure you join me in wishing her well. It's an ugly illness to watch and it's sad to see a person destroyed by it. To go back to the beginning....here my lone doctor, who had never examined my sister, recognized the symptoms of this unusual disease and diagnosed her. He diagnosed me with my many problems, some requiring surgery, over 35+ years ago. So some doctors are more inquisitive, shall we say, more people friendly. He recently died, but his type was the best a person could have. We met when we were both very young...a lot of people wouldn't have even gone to him b/c he didn't have a lot of experience at that point, but the right type of person is worth more than gold. Keep looking. Yours, Lenora

 

[Rufous McKinney]

I managed to watch an interview yesterday

I got to EIGHT MINUTES

I bet a bunch of us with ME are in fact dealing with a version of whatever is Stiff Person Disease...

 

[hapl808]

I bet a bunch of us with ME are in fact dealing with a version of whatever is Stiff Person Disease...

Yep. Any of us who can't walk, whose crashes also cause muscle stiffness, etc. Even the noise sensitivity part of SPS sounds like ME/CFS.

As I've often said, despite having it I don't 'believe' in ME/CFS. And by that I mean that disorders and diseases are distinct. Syphilis is a diseases - we can test for it, treat it, verify that we've cured it. Where Alzheimer's is a disorder. We know the symptoms, but there's no single definitive test, two people can have the same plaques and one is fine and the other is no longer present, etc. So maybe Alzheimer's is five different forms of dementia lumped together - we just don't know.

Same way that once we could sequence viruses, we can determine if two people were infected by the same variant. Before that, we'd have no way to know.

Technology has a long way to go.

 

[Rufous McKinney]

two people can have the same plaques and one is fine and the other is no longer present, etc.

the plaque theory on ALZ was recently found to not be working. After many years of refusing to fund research contrary to that theory.

 

[Violeta]

Some info about Stiff Person Syndrome

We can divide SPS into III categories: type I, associated with other autoimmune conditions and usually GAD-positive; type 2, paraneoplastic, anti-amphiphysin-positive most of the time; and type 3, seronegative SPS, which is mainly idiopathic [2]. The etiology of SPS has an apparent autoimmune root, but its pathogenesis is not completely clear. It is generally associated with antibodies against glutamic acid decarboxylase (GAD) and antibodies against gephyrin, the glycine-alpha1 receptor, or gamma-aminobutyric acid (GABA) receptor-associated protein [3]. Lack of signals dependent on GABA causes rigidity and stiffness of the truncal muscles and increases sensitivity to touch or noise. Other autoimmune disorders can be diagnosed, such as Type 1 diabetes and Hashimoto’s thyroiditis, due to its autoimmune basis. In contrast, paraneoplastic SPS is generally linked to anti-amphiphysin antibodies and is associated with malignant tumors of the lung, thymus, breast, and lymphoma [3].

 

[Gingergrrl]

I have not been tested for it. I had a bunch of other useless Mayo panels that told me nothing (carnitine profiles, etc). Unfortunately blood work seems to be a trigger for me, which makes it more difficult.

Thanks for explaining and I couldn't remember which Mayo Panels you'd had. Did you have any panels for paraneoplastic syndromes?

It is interesting that IVIG seems helpful for kinda everything, and seems like more people should be getting it.

I agree and IVIG can be useful in immune deficiency and autoimmunity even when the diagnosis is unclear.

Sadly there's an incredibly dense article in New Republic today that basically reframes Long Covid and ME/CFS as just psychosocial disorders where maybe people just need some exercise and better mindset.

I looked at that article and it is God Awful. The author discussed ONE patient's case and then decided that all ME/CFS & Long Covid were FND. But she provided no proof of this except citing the usual suspects from the PACE Trial, etc, that have been disproven. But there is no point trying to have a rational discussion with someone who has already made up their mind (as much as I'd like to refer her to Ed Yong's articles)!

Yep. Any of us who can't walk, whose crashes also cause muscle stiffness, etc. Even the noise sensitivity part of SPS sounds like ME/CFS.

It seems like there is a Venn Diagram between many of these different illnesses where some of the symptoms overlap.

Some info about Stiff Person Syndrome

Thank you for this info and it was really helpful.

We can divide SPS into III categories: type I, associated with other autoimmune conditions and usually GAD-positive; type 2, paraneoplastic, anti-amphiphysin-positive most of the time; and type 3, seronegative SPS, which is mainly idiopathic [2].

I did not realize about the three different types of SPS. In my case, I was positive for Anti GAD65, but negative for anti-amphiphysin.

Other autoimmune disorders can be diagnosed, such as Type 1 diabetes and Hashimoto’s thyroiditis, due to its autoimmune basis.

My doctors ultimately felt that I did NOT have SPS and that my Anti GAD65 autoantibodies were autoimmune mediated b/c I had Hashimoto's & other autoimmune disease. They also ruled out diabetes (in my case).

In contrast, paraneoplastic SPS is generally linked to anti-amphiphysin antibodies and is associated with malignant tumors of the lung, thymus, breast, and lymphoma [3].

They ruled out cancer in my case but (at the time) my understanding was that they needed to rule out lung cancer b/c I had calcium channel autoantibodies (versus b/c of the Anti GAD65 autoantibodies).

 

[lenora]

Talk about aging, I can assure you that people (that I've seen....perhaps 4) who are victims of Stiff Person Syndrome truly look like suffering is an everyday part of their illness an aging is a huge part of their lives. My sister was fortunate that her meds allowed her to cope and for that I'm most grateful.

How she ever made the trip to the Scandinavian countries in the latter two years of her illness, I'll never understand. I applaud her and was seo proud of her. Of course it would have been impossible without her husband's (or a caring companion of some sort) support. Nothing was going to stop her....and it didn't. I'm sure hers was an autoimmune problem, also. The doctors she saw were shocked that she did learn to walk again. I wish she had left me more of her drive.....but perhaps I'm just too tired now.

Celine looks ill, but then she has always been thin. I'm sure that as usual, stress has played a part in her becoming ill. I wish her all of the very best....and the same extends to each of you. Yours, Lenora

 

[Violeta]

My doctors ultimately felt that I did NOT have SPS and that my Anti GAD65 autoantibodies were autoimmune mediated b/c I had Hashimoto's & other autoimmune disease. They also ruled out diabetes (in my case).

They ruled out cancer in my case but (at the time) my understanding was that they needed to rule out lung cancer b/c I had calcium channel autoantibodies (versus b/c of the Anti GAD65 autoantibodies).

I'm glad you don't have SPS. Or cancer.

The mother of a friend had SPS. In the advanced stage, it was debilitating. She had difficulty talking and had to be on a feeding tube because she couldn't swallow.

The symptoms sounded similar to Parkinson's so I looked up a list of symptoms for manganese from a homeopathic materia medica and asked her if her mom had any of the signature symptoms: uncontrollable weeping and/or laughing, and she did say her mom had both of those. I told her about homeopathic remedies but she didn't understand and wasn't interested.

Her mother had had Lyme 5 years before she was diagnosed. She was given antibiotics, which treated it adequately. Lyme replicates on manganese, so I wonder if the antibiotics dealt with the bacteria but the manganese got left behind. (This is just my own conjecture.)

Remedies for Parkinson's don't help SPS, though, I understand that.

It's interesting that GABAergic drugs are helpful for SPS.