I have had Stiff Person Syndrome for almost seven years now. Celine Dion is newly diagnosed but she is the first celebrity that has been diagnosed with this condition. What does it mean for her? Well, it’s not an easy ride and that’s about all I can honestly say.
From Celine Dion’s announcement on Instagram it seems like the condition may be affecting her ability to sing which is what she is famous for. This could be for several reasons, Stiff Person Syndrome can affect your breathing and cause chest spasms. I have cracked my ribs through chest spasms, but this usually happens when I have an illness which makes me cough or vomit.
Stiff Person syndrome can also affect your ability to walk and stand for long periods, not good if you are on stage. You can also be affected by bright lights or sudden loud noises.
Yet another common feature of Stiff Person Syndrome is a type of brain fog where you can forget what you are doing or what you were about to do.
What is Stiff Person Syndrome?
As I said, I’ve had this condition for seven years but I’ve never met two people who have exactly the same symptoms. Some are familiar, and these I’ve already outlined above. But the condition is so rare it’s not yet known why it happens and why people are different.
I was first mis-diagnosed with Transverse myelitis. I had many tests which ruled out things like Multiple Sclerosis and Guillain Barr Syndrome. But I’d had some demyelinating of my spinal cord which but they didn’t know why. I was told that I would recover after treatment of steroids and physio therapy, but when I didn’t get much better further tests were carried out. These included an Electromyography and Nerve conductive study. It was found that I was positive for anti-glycine receptor anti-bodies and I was diagnosed with a form of Stiff Person Syndrome known as Progressive Encephalomyelitis with rigidity and myoclonus (PERM.) As I have a progressive form of Stiff Person Syndrome it is unlikely I will get better.
What about Celine Dion? She believes that she will be able to continue with her tour in 2024 after treatment. Well, she is rich and can probably afford the best doctors, but there are only so many treatments available for Stiff Person Syndrome and not all of them work. A lot of people can get on with their lives to a certain extent. Some are much worse and unable to continue with a normal life. I don’t think I know of anyone who has made a complete recovery and there certainly is no cure.
Treatments for Stiff Person Syndrome
It takes a while to get treatments right but you can get help to make improvements. Being a neurological disorder, once the damage is done it’s hard to repair. There are treatments available though. Different things work for different people. I was unable to move at all from the chest down and had little movement in my arms and upper body. I had IV high dose steroids and within a week I was able to sit up and walk a few steps with a zimmer frame or rollator walker. After leaving hospital I continued with tablet steroids and was also given a nerve pain drug, Gabapentin and a muscle relaxant, Baclofen. These helped a little but over the years I’ve had increased doses and also take Diazepam.
Once I was diagnosed with Stiff Person Syndrome I was put on another course of IV steroids and months of pills, but all they really did this time was make me put on weight, almost two stone.
Eventually, I was approved for IVIG, intravenous immunoglobulins, and it took a while to get the frequency of the dosage right. Now, seven years on, I have the treatment on a day ward for four days every six weeks. This dose helps a lot. The anti-glycine receptor is no longer in my blood so it won’t cause any more damage, and the myoclonus (uncontrollable jerking) has stopped. I still get startle reflex, where sudden loud noises can make me jerk and feel pain, and sometimes paralyse me. IVIG is also good for improving gait and balance, but this is something I still have problems with.
Most people with Stiff Person Syndrome have a high level of GAD 65 (glutamic acid decarboxylase) in their blood. This is an neurological autoimmunity which is also shown in people with Type 1 diabetes and pernicious anaemia.
More treatments include Plasmapheresis which ‘involves removing blood through a needle or catheter and circulating it through a machine where the blood is separated into red cells, white cells, platelets and plasma.’ The plasma, which is the fluid content of the blood, is discarded and replaced with a substitution fluid. This is something I’ve never tried. I guess my consultant doesn’t believe it would help me.
Another treatment is Rituximab which is an anti body therapy which is often used alongside chemotherapy for some cancer patients. I have asked for Rituximab as I’ve heard it can have good results. My consultant told me that he could get it approved if I still showed signs of the anti-glycine receptor anti body, but I don’t because the IVIG has got rid of it. So, even though the IVIG has not made much improvement, it has stopped me from being attacked by the anti body that Rituximab would be used to treat. If I stop the IVIG I will get worse, but I can’t have the Rituximab unless I stop the IVIG.
Another treatment which is quite intense is Hematopoietic stem cell transplantation (HSCT) which involves taking stem cells (possibly from bone marrow) and transplanting them. The patient is give chemotherapy and radiation therapy before the stem cell replacement and the whole procedure is quite unpleasant. It’s also difficult to get and many people save up huge amounts of money to get treatment in other countries such as Mexico or Russia. The treatment usually goes by a Expanded Disability Status Scale. I rank 7 on this scale and would be a suitable candidate, but I have neither the money or the inclination to undergo the treatment. It’s not proven to work in Stiff Person Syndrome.
More Of My Stiff Person Syndrome Posts.
Most months I take part in a writing prompts challenge where I use the prompts to talk abut my chronic illness and how it affects me. You can find them here.
I have also written many posts about Stiff Person Syndrome which you can find here.
What Does it Mean Knowing that Celine Dion has Stiff Person Syndrome?
There are always two sides. First up I was happy that so many people thought of me after her announcement. It means a lot that people have actually recognised my condition. I wouldn’t wish this condition on my worst enemy but now that someone famous has it maybe it will get more research or at the very least doctors will have heard of it. When I have presented at hospital I have had many doctors who have not had a clue what it is. At least my lovely nurses on my infusion ward are more educated. They even know how to treat me if I have a spasm while having treatment, which has happened a few times over the last 6 years.
Maybe now when I get a blank face from a doctor or they look like I’ve just made it up, I can say something like ‘it’s what Celine Dion’s got’ to validate it.
On the other side we have the people who will be thinking that I’m jumping on a bandwagon, ah someone famous has it so why not say you have it too! Yes, there are people like that. Even my writing about it here like this could trigger some into thinking I’m just attention seeking. I’ve lost family and friends in the past for ‘talking’ about my condition. But I don’t care, yes I am attention seeking, but not for me, for all the people suffering from this horrible infliction. The more we know about it the more likely we are to understood and maybe get more treatment options and the possibility of a cure.
I was taken to hospital in an ambulance once, because of a road traffic accident. After being left on a trolley in a corridor, a young doctor finally checked me over to see what damage had been caused and he pressed on my spine which caused a spasm. he said he couldn’t examine me unless I relaxed. While in a spasm it’s impossible to relax. He discharged me and then said he couldn’t arrange a wheelchair for me even though I told him I was unable to walk. He genuinely thought I was putting it all on and time wasting. Thankfully, my husband was with me and managed to borrow a wheelchair to get me into a taxi to go home. I was discharged with a dislocated ankle which hadn’t been treated because I ‘wouldn’t’ relax enough for him to check it out. I could have complained but what’s the point. When you are sick you don’t have the energy or brain space for that.
If Celine Dion makes a recovery and goes back on tour (I’d love to have access to her treatment plan!) then people will be expecting me and other sufferers to recover too. It’s just not possible for some. Even those who end up being able to live their lives normally, still have problems at times.
I’ve given up looking for sympathy because a lot of people just don’t get chronic illness. You get sick, you get better. It’s so hard to understand that some people never get better.
One last point I’d like to make. This hasn’t been proven, or studied, but I’ve talked to a lot of SPS sufferers and so many of us have suffered some kind of trauma before the onset of symptoms. It may be that the auto-immune system can go into overdrive and attack your body physically after an emotional trauma. Personally, I was in a position where I drove my Father-in-law to hospital while he was having a heart attack. We made it to the hospital but he died in the foyer before we even managed to get treatment. This happened just days before I was hospitalised with the worst of my condition. I know that Celine Dion has recently had some traumatic experiences too.
All, rare conditions are represented by a zebra, medical students are taught to look for the obvious, when they hear hoof beats it is likely to be a horse, but hoof beats can also be zebras!