PERM

At Least You Don’t Have Cancer

June 22, 2019 by Anne Sweet 13 Comments

photo of a hospital drip holder with medication bag possibly cancer treatment

I’ve had a few people say to me “at least you don’t have cancer” including my husband.

I’m so glad I don’t have cancer, it’s an evil disease that doesn’t care who it attacks, young or old. Nearly everyone knows someone with cancer. Getting a diagnosis feels like being given a death sentence. Even those that survive never really recover.

The treatment for cancer is brutal with many side effects. Sometimes it works, sometimes it doesn’t. It attacks different parts of the bodies so all cancers are different.

Cancer has taken far too many people too soon, destroying families. Survivors live with the knowledge that it can strike again at any time. Survivors also often suffer with Post Traumatic Stress Syndrome.

Cancer took my Mum, two of my sister-in-laws and my nephew. Cancer wrecked the first few years of my friend’s little boy’s life. I have friends with cancer. I hate cancer, I really do.

I’m glad I don’t have cancer.

At Least You Don’t Have Stiff Person Syndrome Plus PERM

I’ve never said to anyone ‘at least you don’t have Stiff Person Syndrome plus PERM.’ Probably because the answer would be like ‘huh?’

When you say cancer, everybody knows what you mean. They know that it’s awful and it can kill, and often does. They know how dreadful the treatments are. Most people know someone with cancer, it’s so common.

Stiff Person Syndrome plus PERM (SPS+) is incredibly rare. Less than one million people in the entire world have it. It can take around seven years to diagnose and most Doctors have never heard of it. It can also be a sign of cancer.

SPS+is so rare no-one knows how to treat it, not even the specialists. Drugs have been used and some found useful. Most drugs are not prescribed because the condition is so rare they are not registered for it.

The drugs I take for my SPS+ are classified so my partner has to go to a regular chemist to pick them up where they know him. If he has to go somewhere else he needs to show identification.

My drugs have many side effects that can make me extremely tired, sick and dizzy. They can also affect my heart and memory.

photo of my hand with a cannula inserted.

I go to hospital for treatment every month. Not in stages, but every month for two years now and probably for as long as I’m alive. I don’t get tests to see if it’s worked because it can’t cure me, just help me from getting worse, and maybe make life a little easier for me. The treatment can cause headaches, flushing, fever, chills, fatigue, nausea, diarrhea, blood pressure changes and tachycardia. It can also cause acute renal failure and thromboembolic events as well as aseptic meningitis. (which I’ve already had.)

I have pain all the time, I can’t walk without aid, and then only for very short periods. I get vertigo and have absence seizures. Most of the time I just want to sleep. I have spasms that can affect any part of my body and that can be so severe they break bones. (So far, just ribs for me.) The spasms can also affect internal organs, including my heart and lungs. Each severe spasm feels like I’m dying.

There is no cure, there is no proven treatment. Most people have never heard of it. I’m in pain constantly, I could die at any time and my medication has just as many side affects as the ailments it’s supposed to be treating.

Yes, I’m lucky I don’t have cancer.

And, you are so lucky you don’t have SPS+

Keep on Hoping, Keep on Wishing but Most of all Keep on Believing

September 10, 2017 by Anne Sweet 13 Comments

Last week I went to A&E because I really thought there was something wrong with my heart. It felt like someone was sitting on my chest, crushing me and making it hard for me to breathe. I called my GP but I was told to go straight to A&E. I was given a red card on entry which meant I was seen straight away. They put me on a ECG monitor and checked me over. Then I was to wait to see a Doctor. As I was waiting over two hours I figured that they’d worked out that I was not having a heart attack.

I saw the Doctor and after lots of questions and further examination, and a consult with someone higher up the decision was that my pain was due to my condition, Stiff Person Syndrome. There was nothing they could do for me and I had to see my consultant for treatment. They couldn’t contact my consultant so that’s up to me, but I have an appointment in two weeks so I’m not sure they will see me any sooner.

For now I just have to deal with it an accept that this pain is yet another one I am going to have to get used to.

I also have been getting pain in my arms and hands, getting dressed has been really awkward. Again, I’ve been told it’s due to my SPS which is progressing. I was affected from my waist down, now it’s from my neck down. No, from my head down because I also get triginemal neuralgia which is another symptom of SPS and affects my face.

My first reaction to the news was to panic. I sobbed. I don’t want it to progress so soon, I knew it would eventually but it’s not even been two years yet. A lot of people with my condition (which is not a lot really because it’s so rare) have died within three years. The positive side to this news (for me anyway) was that they were not diagnosed in time and did not receive the right treatment. I’m extremely lucky to have been diagnosed so quick, and there are treatments available, so I’m still hopeful. What I am worried about it my consultants lack of concern, he didn’t even follow up to see how my last treatment (in June) went. I’m going to have to be firm with him when I see him next. I can no longer wait six months between appointments, if he’s too busy to fit me in then I will see someone else.

So after my self pity, (I really don’t want to lose my hands and arms, if my legs don’t want to get better I’ll deal with that but I can’t lose my upper limbs, I just can’t) I’ve decided that I’m going to bring out my fighting spirit. I’ve researched all the treatments that might work and I want to try them until I find one that does work. Of course, I would have to get the rarest form of an extremely rare condition, which means my consultant will have fight for the treatments, but I’m determined not to give in.

I also need to be pro-active. I have let my diet slip again and I do get lazy. Activity causes me pain, but if it’s the only way to keep my body doing what I want it to do then I need to be more active. I will walk more, I’m thinking of getting some of those comfortable crutches that support the arm so they don’t feel all the stress of holding me up. I have a friend who is great with alternative medication and although she’s been having a rough time this year with her own issues, I think she’s ready to start advising me again now. I am also in contact with other sufferers which helps a lot.

Sometimes I think that, you, my readers, get fed up of me harping on about my condition. But, this is my place and sometimes I just need to share. It makes me feel better, writing things down can be so cathartic and sharing my story may help someone else in the future. I know that reading another sufferers story as helped me, she’s into her 16th year and it’s been really rough for her, but now she has found the right treatment that works for her and is enjoying life again.

Just a couple of weeks ago my wish would have been to walk again. Now, that’s just a dream, a bonus. My wish now is that I can stop this condition from continuing it’s progression.

One thing is for sure, I won’t give up. I haven’t tried half the treatments that are available yet, and as much as I despise the thought of being on medication for the rest of my life, if it gives me more life then I will take it. I have children who need me. My husband needs me. And I don’t want them to be my carers I want to be the best I can and the only way to do that is to fight this illness and not let it get the better of me. It won’t win, I will!

Photo by crabtree on Unsplash

Photo by Alex Cagwin on Unsplash

My New Treatment

May 8, 2017 by Anne Sweet 17 Comments

On June 5th I am going to hospital as a day patient for five days to try out a new treatment.

I will be getting an intravenous transfusion of immunoglobulin each day.

I am both excited and scared. I’m excited because I’ve heard that this treatment can be really good. It could make me feel more normal again, perhaps even ease my constant pain. Maybe I’ll be able to walk again. I am scared because it might not work at all, I have one of the rarer conditions that IVIG is used for, I even have one of the rarer types of my condition.* Also, as well as not working, the side effects can be very nasty.

I have lots of forms to fill in about what I can and can’t do and what pain I feel. There is even a form about my feelings and emotions. I have already been assessed physically for what I can and can’t do. After the treatment these assessments will be done again to see how well the treatment has worked. This is necessary because the treatment is expensive and it has to be proven that it works so that I can continue to have it.

It’s not a cure, it’s a treatment. If it works then I will have it every three to four weeks.

Since my new diagnosis in January I’ve been feeling really low. Last year I was positive and believed that I would get better. Then I had the news that I wasn’t going to get better and, in fact, I had a progressive illness that was going to get worse and could be life threatening.

This new treatment has given me hope again. To be pain free for even a week would feel like a miracle. To walk again, even for a short while would be fantastic. My kids would be so happy to have their mum back.

My fingers are tightly crossed that this works.

For the first time this year I feel positive again.

*My condition is Stiff Person Syndrome (SPS), my type is Progressive Encephalomyilitis with Ridigity and Myoclonus (PERM.)

Stiff Person Syndrome and What it Means

February 1, 2017 by Anne Sweet 5 Comments

As you may know if you’ve read my blog before I am a disabled mother. I was diagnosed with Transverse Myelitis on Jan 1st 2016 but my consultant changed that diagnosis just a year later after some tests showed that I have Stiff Person Syndrome. I wanted to record the start of my journey here on my blog, mainly for myself, but also so I can let people know why I am the way I am. This post is very detailed and probably not much interest to anyone else, so please forgive my self indulgence. If, however, you would like to know more about what is wrong with me then please read ahead.

Diagnois:

To make the diagnosis my neuro consultant took blood tests and I had an Electomyography and Nerve Conduction Study last September. A Stiff Person Syndrome diagnosis is usually proved when a certain anti body known as Anti-GAD (not to be confused with Aunty Gladys which I’m sure many of us have) is present. Well, I don’t have it! So I thought I was in the clear. However, it turns out that I have another little critter of an Anti-Body doing the rounds known as a Glycine Receptor and this can be a culprit for Stiff Person Syndrome. Also, the electrical needles I was poked with added to the results. I have a sneaky feeling that this is not the end of the diagnosis period. The consultant mentioned something called Progressive Encaphalomyletis with Rigidity and Myoclonus, PERM for short (now that brings back memories!) It’s not officially written in my notes yet though.

How am I affected?

Well the consultants main concern was my rigidity. I already have several muscles in permanent seizure, i.e. completely stiff. It starts from my lower back and moves down to my upper thighs. My lower leg muscles are also pretty stiff and so are my feet, but not quite as rigid. This makes it difficult for me to walk and when I do walk it’s with, what is called, a spastic gait.

I also have periods where my muscles spasm in and out of rigidity and this is more painful. It’s like muscle contractions that I cannot control, they can last anything from second to minutes to an hour. Thankfully, at the moment, it’s generally shorter rather than longer periods. These happen anywhere from my ribs to my toes.

Then there is the myoclonus which is a rather fancy name for jerks! They happen frequently but not constantly. I mean, I’m not lying around jerking like a fish out of water, but I do jerk quite a lot intermittently throughout the day. I’ve noticed they happen more frequently when I am more uncomfortable, like in my wheelchair for a long time, or if I need the toilet.

What Has Happened to Me?

I’ve become one in a million! Well, actually, the figures are not even known it’s so rare but yes it’s less than one in a million worldwide. No-one really has the answer to why it happens and I had enough tests under my last diagnosis to know it was not caused by any nasty little disease or germ. They even took a sample of my spinal fluid to test, that was fun! Well, actually it wasn’t too bad because they did it at a time when I was paralysed anyway and I didn’t feel much at all. Then afterwards I had to lie on my back for at least two hours to prevent a headache…well, eh, paralysed! I didn’t move for another 12 hours at least afterwards, no headache, yay for small mercies.Just like TM I had some kind of inflammation on my spinal cord which has affected the myelin coating and in turn made my central nervous system go wonky. Now I know that it was the naughty little glycine receptors that started the battle by triggering my own body to attack itself. Hence, it’s also considered to be an auto-immune condition. But like I say, not a lot is really known about it.

What Can I Expect?

Again, not an easy one to answer. Some people suffer mildly for many years, some progress at an alarming rate, some die within one to three years (But lets not focus on that!)
I may get better if the right treatment is found and works on me. But, the truth is, this is a progressive condition so it’s certain that I will get worse at some point. Some sufferers have had remission after treatment and have been able to get back to a relatively normal life. Some have just become worse. I have no idea which one I will be but I do have faith in my consultant who is now prepared to work through the treatments available with me.

Pain

Pain is one of the big issues. Neuropathic pain is difficult to treat despite there being treatments available, people do not seem to have much success in being pain free.

I have pins and needles. That’s the simplest way to describe it, but it’s much more. Everyone gets pins and needles, they are uncomfortable. If you’ve been sitting in a certain way too long you may find that you get pins and needles in your foot or leg. You get up, you walk around, you may even shake it a little or massage it. Then it goes away. Mine doesn’t go away, not ever. It’s not just the general tingling either, it’s the really, really strong one that makes you hop on one foot because it hurts to put your affected foot down. I have to live with that daily. At first I didn’t want to put my feet down, it was like walking across a hot shingle beach bare foot. After a while I got used to it, and now I just do it whenever I can, but it’s never for very long.

I have the pins and needles in my feet, legs and my hands. They are much milder in my hands though, thank goodness. They bother me most when I’m in bed and trying to sleep. It’s so hard when you are just throbbing everywhere.

I also get spasms where my muscles go into deep contraction. It’s generally in waves and really hurts. It’s not permanent though and at the moment I can bare it, just about. The worst, I think, are night spasms. I will wake up and my entire lower body is in spasm, everything is contracted and tight and I feel like I want to escape from my skin. This can last from a few seconds to several minutes. My body will contort in spasm and I feel like I cannot move any part of me. The scary thing is, these spasms are moving up my body and lately I’ve been getting more around my ribs and chest area. These are scary because it feels like I’m being crushed. I have to do my best to keep calm when this happens as stressing out can make it even worse.

I get back ache on a daily basis, it comes on if I sit too long, or even if I stand too long. It’s often there when I wake up. Thankfully, my painkillers do help my back pain.

I get a burning sensation down the back of my legs and in my feet. This happens when I’ve been standing too long, probably while cooking or washing up. I have a stool to sit on while I do things in the kitchen and I have to use it when this pain comes.

Treatment

I will be on treatment for the rest of my life. I will need to keep taking medication to prevent this illness from taking over my body completely. There is no cure, so slowing it down is the only option.

I’m currently on high dose steroids. I had five days of intravenous steroids in hospital. This meant they could give me a high dose with less risk of ulcers appearing in my stomach. Now, I’m on pills which I will be taking for four months and slowly weaned off.

I take drugs for the neuropathic pain which must help a little because I feel dreadful if I miss a dose. Sadly they don’t work too well though and I may have to increase my dosage.

I also take drugs to help the pain so I can sleep, I take anti-acids to counteract the side effects of the steroids and Calcium to increase my bone strength.After the steroids, if I’m no better, or I get worse again, the next step would most likely be IV Immuniglobin. This is a mixture of anti bodies derived from human blood donations. I will be hooked up the drip again but for a few hours longer.

Another treatment is Diazapam, a sedative used for anxiety, but it is also good for relaxing muscles. I think I may already be too far gone for this drug, but it may be used in the future.

Other treatments involve chemotherapy and Plasma Exchange, but these will hopefully far in the future if I need them.

Prognosis.

My prognosis is not really known because this condition is so rare. I could start walking and moving like before. I could find something that actually works against my pain. I may be able to lead a normal life at least for a while.

Or, I could just get worse. I could lose more of my muscles to rigidity and have more frequent spasms. I may have spasms so strong that they break my bones. I may start having spasms in internal organs which will cause further issues. It could progress quickly and even take my life.

I will stick to the positive side and pray that I can have some kind of life with my children and be able to enjoy things.

I will never be cured from Stiff Person Syndrome and it is progressive, so I will get worse at some point. On the other hand, I could have my diagnosis changed again to something different.

Feelings:

It’s all been very difficult to come to terms with. I went from having hope of some kind of recovery to knowing that things can only get worse. I still harbour some hope of recovery, the thought of living out the rest of my life like is this really depressing me.

I’m not afraid of dying but I am afraid of how my family will cope without me and I’ve already started getting as much as I can into order to make things easier for them.

I’m terrified of not getting to see my kids grow up.

I’m terrified of not getting any better and my kids having to watch me get worse.

I really don’t want to become a burden on my family.

I’m generally a positive person, always looking for the good. It’s been difficult lately but I know I need to get that positivity back and soon. I need to enjoy what I can while I can and I’m currently working on a list of things to do that will create happy memories for the darker days.

List of medication

Here is a list of my current medication just in case anyone is interested.60 mg daily of prednisolone
1200 mg Gabapentin
20 mg Baclofen
20 mg Amitryptiline
20 mg Lansoprazole
2 chewable calcium tablets with VitD

For extra pain relief when required;
Naproxen
co-drydamol
paracetamol
ibuprofen
(n.b. I choose which of these I require, I don’t take them all at once)

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