Canadian singer Celine Dion’s diagnosis of Stiff Person Syndrome (SPS) in early December last year has stimulated thought-provoking discussions and dissemination of information about the condition.

The very rare, progressive, neuromuscular disorder affects the central nervous system. It is characterized by extreme muscle stiffness and spasms, lumbar hyperlordosis, chronic pain, and postural instability leading to frequently falling and difficulty walking.

Much of the information about the diagnosis and treatment of SPS comes from neurologists who treat patients with the condition. However, patients with SPS can provide unique insights into what it’s really like to live with this progressive disorder.

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Lauren McDermott, a patient with SPS who resides in Philadelphia, Pennsylvania, has faced constant challenges living with SPS, from receiving an official diagnosis to finding treatments that would help her manage her condition. McDermott’s earliest symptoms started in 2011 and took years to manifest to the point of concern. She tested negative for all of the known antibodies indicative of SPS; however, she met all other diagnostic criteria for the condition. This atypical feature of her condition made the diagnostic process even longer for her.

In the fall of 2018, the muscle knots and overall tightness for McDermott worsened. In August 2019, at age 38, she was diagnosed with atypical SPS.

Given the attention in the press after Celine Dion’s diagnosis, McDermott is even more hopeful for the future of people living with SPS — not only in terms of accurate and timely diagnosis due to increased awareness of the disorder, but also for the development of new, beneficial treatments aimed at improving quality of life.

To better understand what it’s like to live with SPS and to identify how physicians can better support patients with SPS, we spoke with McDermott for this patient perspective.

Take us through your experience of being diagnosed with SPS. What did your physicians do well? Did you have any poor experiences?

McDermott: At first, I saw a sports medicine doctor since my initial symptoms were back muscle tightness and knots, and muscle spasms. Despite the doctor’s limited knowledge about SPS and what was happening, she did a lot of testing for sleep apnea, cardiac testing, a chest x-ray, and blood panels. She also referred me to a chiropractor. I liked how she promoted thorough testing and holistic treatments.

I even saw a rheumatologist at Penn Medicine. He took very thorough notes and wrote down verbatim what I said during my initial evaluation. When he was unsure about something, he pulled in the head of the rheumatology department at Penn to work together on figuring out the complex disorder.

During an emergency room visit for a bad flare up related to SPS, I was seen by an internist. The internist thought that people with SPS require a respirator to breathe; however, people with SPS may not initially present with diaphragm issues, which is a rarer occurrence. Even though at first, I was dismissed that I had SPS, this same internist still ran tests for the anti-glutamic acid decarboxylase (GAD) antibodies (70%-80% of people with SPS have GAD antibodies), so perhaps speaking with another practitioner or neurologist made her change her mind.

When there was a suspicion of SPS but none of the blood tests came back positive for the GAD antibodies, I appreciated that the doctors were willing to let me try diazepam since it is a controlled substance. At the end of the day, since I have an atypical presentation of SPS, trying diazepam was the only way to test for SPS to see if I actually responded. Diazepam has been the most effective pharmacologic treatment for my condition. Taking it helps reduce flares. I also appreciated that my doctors tried medications other than opioids for pain management, such as muscle relaxants.

Overall, the things that physicians did not do so well mainly centered on the lack of knowledge and understanding of the rare disorder. From what I have experienced and what I have heard from patients with fibromyalgia, SPS presentation is more severe than the typical fibromyalgia presentation. When I saw some physicians who were stumped, they were not able to give me a referral to specialized neurologists who might have provided a more accurate diagnosis.

What did your physicians share with you that molded your perspective of the disease?

McDermott: Given that SPS is a rare disease, most physicians I saw didn’t know a whole lot. It was scary at first because I got a lot of “I don’t knows” or nonanswers that were frightening. I eventually got what is known as a “working diagnosis” because I have an atypical presentation of SPS. A “working diagnosis” is challenging mentally because I do not have an “official diagnosis.” I often question: “Do I have a variant of SPS that they haven’t discovered yet? Do I really have SPS?”

Once I got the working diagnosis, I appreciated that my doctor leveled with me. I learned that the available treatments for SPS would be harsh. Many of the oral medications carry a possibility for addiction. The intravenous immunoglobulin (IVIG) treatments are tough on the body. There is no cure for SPS, so it is hard to stay positive. However, I appreciated the sentiment from my physicians, “We are going to do the best we can with the knowledge we have, but you must recognize that it is going to be a hard road.”

What questions did you have for your physicians during follow-ups?

McDermott: One of the first questions I asked my internist once I was diagnosed was if I would ever be able to get back to work. I had a stressful previous job, so my internist recommended that it was not wise or realistic with SPS to place myself in a high stress environment, which in turn is a trigger that could result in flare ups. Many individuals I know with SPS have to rest the entire weekend after working a full week because of their condition. It is important to be realistic about expectations.

Other questions I had for my doctors during follow-ups centered more on supportive treatments and necessary lifestyle changes.

Questions I wondered about included:

“Are there any good physical therapists who understand stiff person syndrome?”

“Are there any good counselors, therapists, or psychiatrists who specialize in chronic pain or stiff person syndrome to support me as my mental health declined?”

“Are there any stiff person syndrome support groups? If not, can we form one?”

“Are there any supplemental treatments that have proven helpful to relieve the pain and symptoms of stiff person syndrome?”

Honestly, I wish my doctors had mentioned warm water aquatherapy and float tanks early on. It took me 6 months to get into aquatherapy at Penn Medicine. Monthly 90-minute treatments in a sensory deprivation Epsom salt float tank have been lifesaving for me. Heating pads, diazepam, edible marijuana, and, currently, IVIG therapy, have been helpful to manage my muscle spasms.

I had so many questions, including one that would be essential for avoiding triggers — Are there things I should actively avoid?

I learned that avoidance of stressful situations, crying children, barking dogs, concerts or movie theaters, and loud music with the bass turned up high in the car when driving can help prevent triggering of muscle spasms. Additionally, wearing sunglasses indoors decreases external stimulation from light as I am photosensitive.

Did you feel you were provided with enough knowledge/options to manage your SPS symptoms? 

McDermott: Initially, my doctors did a good job at setting high-level expectations. They helped me understand the flow of treatments; however, they did not really guide me as much in figuring out the smaller supplementary things, which, cumulatively, can make a huge difference in functionality.

Once I got to a maintenance or management point and was deemed as stable as I was going to be, the interest and care declined related to concerns about quality of life. Since this is a progressive disorder, my current treatments may not work as effectively over time and may require dose adjustments and modifications. While my SPS may not be presenting as severely as it initially was, I still need medical care. A 30-minute telehealth appointment every 3 months might not be enough time to do this.

What do you think can be done from a clinical perspective to improve care for patients with SPS? 

McDermott: There should be more education around therapeutic treatments. Active listening to patients to see what they are doing and what works for others may help save patients the extra leg work in figuring out supplemental therapies. However, I acknowledge that certain treatments may not work for everyone.

Additionally, there should be more education on the proper way to conduct an electromyography (EMG) for consistency with diagnostic testing. A neurologist with SPS experience should be doing it. I have had my doctor tell me that the EMG test will only be positive if the patient with SPS is currently in spasm during the testing.

I also wonder about the standardization of care and treatments. IVIG treatments are usually given monthly, but some individuals with SPS receive these treatments every 2 weeks and the number of consecutive days of IVIG treatments also differ.

I think providers should have an open line of communication with their patients to explain why they do things a certain way or won’t try things a different way. Having respect for patient feedback, listening to our concerns, and responding promptly when we might be in a crisis, especially with refilling prescriptions that keep us functional and out of the emergency room, are very important.

Compassionate care, a more comprehensive approach, and improved communication and collaboration between specialists is critical when caring for patients with SPS and other complex rare diseases. This is especially true in the rarest of the rare patients with atypical presentations within an already rare disease.

Editor’s Note: This interview was edited for clarity and length.

This article originally appeared on Neurology Advisor