Stiff person syndrome (SPS) and Hodgkin's lymphoma: "They had never seen a case like mine!"
Published Jan 19, 2022 • By Andrea Barcia
After a bilateral hip fracture, Thais, a member of the Carenity community in Spain, was diagnosed with PERM, a rare variant of Stiff Person Syndrome (SPS), and Hodgkin's lymphoma. She agreed to tell us more about this rare disease, the diagnosis, the treatments and how she struggles with the symptoms on a daily basis.
Discover her story below!
Hello Thais, thank you for agreeing to share your story with us on Carenity!
First of all, could you tell us a little bit about yourself?
I have a PhD in statistics and I am a secondary school math teacher. I have always been a very fastidious person and at the same time very active. I try to apply myself as much as possible in what I do. I love teaching, I am currently volunteering as a private tutor as long as my health allows.
I am the elder of two children, my brother is 10 years younger than me, my mother is from Castilla-La Mancha and my father from Malaga, so the fact that I am from Valencia is a coincidence, they came here together for professional reasons.
I really like math, cinema, reading and learning about almost everything, and especially exercising, like swimming, and I have trained in karate for many years. I also like Lindy Hop dancing and basketball, although I am terrible at the latter.
What health conditions do you have? When were you diagnosed? How did you handle the diagnosis? Were you expecting it?
At the moment you could say I only have PERM (progressive encephalomyelitis with rigidity and myoclonus), a rare variant of an autoimmune neurological disease called Stiff Person Syndrome (SPS), associated with a paraneoplastic Hodgkin's lymphoma.
Both the cancer and the rare autoimmune disease were diagnosed in June/July 2020 after a bilateral hip fracture due to muscle spasms.
I felt very overwhelmed, my case was already being overseen by several neurologists for six months. The first one diagnosed me with Guillain-Barré syndrome. It was the last neurologist I saw who re-evaluated me when I had a major relapse where the spasms were strong enough to break my hips.
The cancer was diagnosed thanks to a trauma specialist who, seeing how the bone fracture had occurred, could not explain how it was a functional problem. He spoke to the head of the neurology department and they sent me for a PET scan, which revealed a possible lymphoma. Finally, the anatomical pathology team confirmed what he already knew, that I had lymphoma, in this case Hodgkin's lymphoma.
Did the specialists at any point explain to you the reasons for the dual diagnosis of Stiff Person Syndrome and Hodgkin's lymphoma?
Some cancers cause paraneoplastic syndrome, although there is not much information about the relationship between this disease and Hodgkin's lymphoma. In fact, the hematologist had never seen a case like mine.
It appears that Stiff Person Syndrome is more common in people with type 1 diabetes or other autoimmune diseases, although it is still a fairly rare disease with a prevalence of 1 in 1,000,000 people.
As it is a rare disease, some people may not be familiar with it. What is Stiff Person Syndrome? What are the symptoms? Had you heard of SPS before your diagnosis?
As I mentioned in the previous question, the prevalence of this disease is 1 case per 1,000,000 people. A disease is already considered rare when its prevalence is 5 cases per 10,000 people. So I didn't know about this disease at all, in fact many doctors have never even heard of it.
This disease, like many other rare diseases, tends to have many variants, which makes it easy to confuse it with many other conditions. In fact, the average time to reach diagnosis is 7 years.
Here is the official description of the disease:
"Stiff Person Syndrome (SPS) is a neurological disease with autoimmune characteristics. Symptoms include muscle spasms, hyperrigidity, debilitating pain and chronic anxiety. The muscle spasms can be so severe that they can dislocate joints and even break bones.
SPS is classified as a rare disease. However, more people are affected than reported due to misdiagnosis. It takes an average of seven years to identify. It is often confused with multiple sclerosis, Parkinson's disease, fibromyalgia, psychosomatic diseases, anxiety, phobias and other autoimmune diseases.
Patients can become disabled, wheelchair-bound or bedridden, unable to work and care for themselves."
In my case, I have attacks where muscle rigidity is severe, causing my body to tense up into dangerous positions, or I have really strong muscle contractions without having done anything strenuous, as if my body is in constant muscle tension. This can sometimes be caused by different types of stress, such as emotional stress, too much noise, or fatigue.
At other times, I have really painful muscle spasms, which can be mild or strong, like when I broke my hips. These spasms can also be caused by emotional stress, sudden noises or external stimuli. They tend to occur more in the hips and lower limbs, but can happen elsewhere in my body.
I've also had periods when stiffness came with loss of muscle tone. One time I was admitted to intensive care for 14 days because of it and had to be tube fed and was totally quadriplegic.
Currently I also suffer from neuropathic pain, although the neurologists cannot tell me if this is a consequence of the disease or a consequence of the corticosteroid and chemo treatments.
More specifically, what is the main characteristic of PERM, the rare variant of Stiff Person Syndrome that you've been diagnosed with?
PERM stands for progressive encephalomyelitis with rigidity and myoclonus, I'm not sure how it differs from the "classic" stiff person syndrome, but it seems that it can affect the face muscles and even the internal organs, which in my case hasn't happened.
You mentioned that SPS is similar to multiple sclerosis, what are the common characteristics?
The connection between the two diseases is essentially in the drugs and treatments used for both diseases, because many of them are the same.
Both diseases, if I have understood correctly, are caused by progressive encephalomyelitis, although, as in multiple sclerosis, it can stabilize and not become degenerative.
Are you receiving treatment? If so, what sort? Do you think it's helping?
The basic treatment is large amounts of baclofen or diazepam, in my case 30mg of Lioresal (baclofen) per day and 5mg of diazepam to help with recovery. As well as chemo for the lymphoma, I was also prescribed gamma globulin injections, plasmapheresis sessions and Rituxan, a drug that is not only used for some lymphomas but also for multiple sclerosis and for this disease.
For neuropathic pain and depression, I take 30 mg of duloxetine.
For general pain, I take Zaldiar (tramadol + paracetamol) every 12 hours or 8 hours depending on the pain, and 60mg of Arcoxia.
I also take 50 mg of Deprax (Trazodone) as a sleep aid.
Have you ever undergone surgery? Why?
Yes, in addition to the operation to remove the lymph nodes near the elbow where the Hodgkin's lymphoma was, I had a bilateral hip replacement operation.
The muscle spasms wore down the heads of my femurs as if they were being hit by hammers, until they shattered like a car window shatters under heavy impact.
What other steps have you taken to help manage and improve your symptoms?
I currently use an electric wheelchair and a walker at home.
I go to physical therapy sessions to be able to walk, even for short distances. I also go to the swimming pool once a week as it has less impact on the joints.
At home, I supplement the physical therapy exercises with stretching and meditation to relax the muscles.
Diet is also very important to me and, although I don't follow a specific diet for the disease, I have cut out all industrial sugars and stimulants and tried to introduce lots of fruit, vegetables and water.
To work on the mental side, I have not stopped meeting people, no matter how much pain I am in, and living life in general. Today I volunteer in various places and I am always allowed to do so depending on my state of health.
You are an active person and a fighter, what keeps you going in the day-to-day?
The first thing that motivates me is that I believe that the treatments they are trying with me can help other patients to gain quality of life. Rare disease research is limited.
The people around me, my family and friends also keep me going. They are a great support to me.
I think that if I can stabilize my condition to a certain level, I can contribute a lot to society. If I can't help with my work, I hope to at least help others. I would like to help people who are in similar conditions..
Do you feel supported by your friends and family? And by your doctors and medical team?
My parents and family have done everything to help me, especially in those moments when you don't see a way out and you think you will never have a decent quality of life.
As far as doctors go, no, the first two neurologists treated me well at first while I was in the hospital, but then they didn't follow up well or refer me to other hospitals when they didn't have answers. One of them even shouted at me as if I didn't want to make an effort to improve.
Today I have no complaints, the group of neurologists who look after me are attentive and do their best to ensure that I benefit from good therapy. The physical therapists around me are also working very well, knowing that I had a very difficult time.
What impact have these conditions had on your personal and professional life? What obstacles have you had to overcome?
At the moment I have been given full disability status, which means that not only am I not fit to work in my profession, but I am not fit to work in any other profession. This is because I cannot predict exactly when I will have a spasm, during which I may go from being able to move around to dead weight and need someone to move or feed me.
Not to mention the medication I'm taking which keeps me from being fully lucid on a cognitive level.
I also need an electric wheelchair to get around and 24-hour assistance with basic tasks such as cleaning, eating and housework. In other words, I can't live on my own, so in the morning someone helps me out and in the afternoon my parents look after me.
The biggest obstacle I've faced is learning to accept that I'm going from a totally independent person to a totally dependent person. Not to mention the administrative problems in applying for disability status, disability benefits, etc.
Getting around in a wheelchair is not easy either, you suddenly realize how unsuitable the handrails, certain places and especially the pavements are.
The pain is also very incapacitating, often making it impossible to stay in one position, sitting, standing or lying down for a long time.
I am lucky to have many friends who understand my situation and ensure that I maintain a social life, but I need help to get to certain places. There is not always good transport to get there with a wheelchair. Or simply because of the pain, I can't make a long journey. For example, I haven't seen my maternal grandmother and my father's family for two and a half years because I live far from Valencia. And things like going to the beach or eating in a restaurant that is not close to my home is something I am just starting to be able to do two years after the first symptoms.
What do you think of online patient communities like Carenity?
I think it is a good tool to communicate about our cases, opinions, etc., so that we can help many people who may be lost like I was. Also, when you don't see a way out, you can rely on others' stories.
Also, talking about nutrition, psychology, fatigue in chronic diseases, etc. is very important.
Looking ahead, how do you see the future?
At the moment, my condition seems to be stabilizing, the number of filaments in my blood is within the normal range, and my body is starting to respond to the therapy. The litmus test will take place between March and April, i.e. one year after the immunosuppressive treatment and the end of the chemo. There we will see if it is necessary to repeat these treatments and if I can have a certain quality with less aggressive medication.
If everything continues as is, my idea is to start leading a more active life, to continue doing volunteer work, but perhaps also to be able to study photography, something I have always loved, even if I have to adapt it to my limitations.
Finally, what advice would you share with other Carenity members living with one of these conditions?
This disease is very challenging, but you have to enjoy it when it gives you a break. Having a social life is very important, as is having a low-stress life.
You have to find your own meditation, I mean activities that allow you to relax your nervous system.
Exercise in a sensible way, based on stretching and muscle relaxation.
Don't get frustrated if people don't understand how you can feel good one day and almost be unable to move another day.
Ask for help from family members or anyone else, but don't try to lead a life of too much responsibility.
Walk and get out into the sun, even if you need a wheelchair to do so.
Seek out activities such as laugh therapy, drama or adapted dance.
Distract yourself as much as possible from the pain and your own illness with activities that are appropriate to your situation.