What I'm Fighting for on Stiff Person Syndrome Awareness Day

Today is the third International Stiff Person Syndrome Awareness Day! The SPS community fights for recognition, for understanding from doctors and the general public and, most essentially, for a cure. In my case and in too many cases, we just battle for effective relief and treatment. SPS is a rare, one in one million, incurable neuromuscular disease.

As I write this piece, every muscle fiber in my body, especially in my calves and thighs, are permanently rigid and seized stones. My ability to walk and move properly is stolen from me. These seized muscles constantly threaten to slam my body with a mighty force into the back of my wheelchair in ongoing spastic episodes that fracture my bones, hold every muscle fiber as taut as guitar strings, and further torture with acute, unrelenting pain.

It was a 21-year fight for an SPS diagnosis for me. My current specialist is the only one in the entire country who is actively researching my variation of SPS, thanks partially to a research grant from the National Organization of Rare Disorders (NORD). I am among the small percentage of patients who do not produce high levels of anti-GAD antibodies. As a result, I have been restricted from treatments by medical insurance and even prior neurologists. It is severely under-researched and not fully understood, as is SPS in general. So, even though SPS is a one in one million disease, my case is even more rare. This reality means daily agony, disability, utter debilitation until my specialist may be able to provide effective treatment.

A few clinical trials exist in the U.S. involving stem cell transplants. Often, though, SPS patients like me are excluded from these trials because we do not have high levels of anti-GAD antibodies to “prove” beyond any doubt we have SPS, in spite of the fact our specialists know we do. We are blocked from basic SPS treatments as well, like IVIG. I am still fighting alongside my premier specialist to obtain IVIG with the approval of my medical insurance. SPS warriors are always fighting insurance for our medically necessary treatments.

No pill works for me. High doses of diazepam and Percocet for acute pain offer some relief during the day, but really just enough relief to try to keep me out of the hospital if possible. I’ve seen that many doctors actually frown upon these meds but know they have to prescribe them since there is nothing else they can offer, particularly when you have exhausted every other pill available. Those of us who have the privilege to access medical marijuana may find it helps but, for most of us, it is some relief, not the cure.

In Canada, with the tremendous help of national health insurance, some SPS patients have received stem cell transplants through clinical trials at cutting-edge clinics. One of these patients is my friend and is in full remission, her life restored to her, because she received a stem cell transplant. She is back to skiing, running, and hiking, living a full life. Here in the U.S., this vital stem cell transplant for SPS can cost hundreds of thousands of dollars, and medical insurance may not approve any coverage of it, even though it is currently the only known curative for this insidious, devastating disease.

Among the worst SPS spastic attacks are muscular seizures that squeeze the ribcage and lungs and severely threaten the ability to breathe. We often spend lengthy and incredibly costly periods living in the hospital hooked up to oxygen as we seize out all over a hospital bed. We may have to inform the hospital staff how to treat us, what to put into our IVs to attempt to contain our emergency attacks.

Another heightened risk many SPS warriors face is the development of various cancers. I am about to undergo surgery next week to remove a mass on my ovary that has fused to the other ovary and causes great pain on top of the intractable rigidity and seizing of my muscles and fractures and even collapse of portions of my bones. This surgery will throw my body into more complications, and I have to explain to my surgical staff how to treat me, what to watch for, and what to monitor with the further aggravated SPS in and after surgery.

One thing that continues to shock me is the common experience of people’s general indifference and actual shrug of their shoulders when I explain from my wheelchair what SPS is and how it affects folks like me, especially when that person is a doctor! The abhorrent lack of medical knowledge and SPS research keeps patients like me imprisoned in disability, isolation, no treatment, constant agony until, too often, our lungs expire. Is it any wonder why we must be warriors?

The devastating rare disease is enough to endure without the additional task of being our own experts who must educate our specialists and anyone who may be able to help us. All rare diseases share this unacceptable burden, and what doctors do not know can kill us.

Infants, children, and adults are diagnosed with SPS often after eliminating every other possible disease.

You should care. I can tell you how amazing it is to have folks care because my husband of 18 years loves me without condition and through the worst of everything. Even in the midst of excessive stress, he puts my care first. I am denied a professional caregiver, as are too many SPS patients, so most of the labor falls upon my husband. He is not compensated for all of his work or acknowledged for all he does to make my life possible, even though he knows how much I cherish his exceptional love and care, all while he works a full-time job for a non-profit medical research center, inspired by his desire to find or access some help for my rare disease.

My new Canadian friend, a gifted artist, created an image of me for SPS Awareness with a quote from one of my Mighty articles! This image is included here along with an SPS ribbon a public online SPS support group designed. I am so accustomed to indifference and being discarded by family and friends that I genuinely was shocked by my friend’s artistic gift in order to raise SPS Awareness for all SPS warriors!

We deserve this kind of friendship, this kind of care and concern. There are extraordinary people out there who will help, who do what they can do without being asked, who understand what you endure every moment in the grip of SPS. How refreshing not to “explain” yourself all of the time for someone to care or help.

On this third International SPS Awareness Day, March 15, 2017, may we foster more of this compassion and essential help with all the info we SPS warriors can provide and without any fear or shame to ask for this help, this care; for this relief we need in order to continue our battle for effective treatment and for access to a stem cell transplantation cure.

Your compassion and your fight alongside us to raise SPS awareness will lead to the cure and a vital love we and our families do not usually encounter from people. Imagine that kind of caring for SPS warriors; the kind that comes free of conditions or judgments and possesses the power to inspire research, educate specialists, place us on the path for true relief, for a cure, for the gift of our very lives.

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