Why SPSers Can't Do It All on Our Own. We Need Researchers Who Care.
A rare, progressive variant that affects 20 percent of stiff-person syndrome (SPS) patients, an already incurable rare neurological disease that affects one in a million, is ravaging my disabled body. I am debilitated by intractable body-wide muscular rigidity, seizures, neurological gait dysfunction, bone fractures, myleopathy, and intractable acute pain. Living for 23 years with this barely researched disease as well as autoimmune symptoms has taught me that I am the educator to my doctors and specialists. Oftentimes they know nothing about SPS — or they are terribly misinformed as to what it is, how it affects their patients, and how to treat it.
My wheelchair, my walker, and two medications that barely work to help me cope with the seizing and the agonizing pain are all that the medical community have been able to offer me. I am dangerously sick and progressively disabled. While I do not have the “traditional” or more common anti-GAD SPS titer, I have everything else in the most aggressive way. I have been evaluated and treated by the top neuromuscular clinics in the USA. They ultimately told me nothing they attempted worked and they could not help me, particularly due to the shameful absence of SPS medical research for the few interested specialists to use to treat and help their patients.
My doctor recently referred me to the only genetics clinic here in Maine. They flat out refused to see me. My doctor eventually received a note from them: “We do not deal with stiff person syndrome.” She contacted them again to emphasize that I needed specialized attention and genetic evaluation. It was critical to my care. They refused to acknowledge her. They never responded. Never.
Finally, my doctor referred me to The Mayo Clinic since there was no other option for any ultra-rare SPS medical attention. After hours of back and forth explanations of my history and detailing all the ways I needed their help on behalf of my doctor and of myself, The Mayo Clinic quickly mailed me a form letter stating that they could not offer “a treatment plan other than the current one.” However, I am not receiving any treatment nor am I a part of a treatment plan, hence the entire reason for my referral to Mayo. My doctor and her staff could not believe the completely indifferent response from Mayo.
They were stunned by Mayo’s rejection and so were my husband and me. My doctor believes they could have at least made an effort, any attempt to help given my diagnoses. It had nothing to do with my insurance coverage because my husband and I finally have excellent insurance after decades of fighting for it. So, I literally have no specialist or medical treatment for my ultra rare, progressive, disabling disease. It all comes back to the lack of research in the field of SPS. No specialist knows how they could help or what they could do to treat the typical SPS patients, let alone the most critical ones.
So many unnecessary risks in daily life from falling down, seizing out, respiratory failure, bone fractures and cartilage tears from muscular tissue ripping and squeezing the entire body, could be alleviated if medical researchers did not discard us SPSers as an automatic lost cause. For the record, these cases of SPS affect infants, children, and adults, so there are hundreds of valiant SPS warrior patients to help and heal. Researchers and medical specialists who engage in research, we need you and you need us more than ever. Stop ignoring the rarest patients who you signed up to treat.
The most vital and precious gift you can offer patients this holiday season or anytime is to at least begin with some genetic testing to target the ultra rare SPS mystery, the SPS torment for us. We feel like we’re just screaming down an empty and bleak tunnel. Only our unanswered echoes surround our hard work to hunt down medical attention and relief from the dangers of our suffering. Please, to all medical researchers, we are more than worthy of your time and efforts. If we need to spend too much of our own time while we are so ill pleading for your help, then we are worth your fight for us. If our doctors refer us to you after an exhaustive SPS odyssey, you should at least acknowledge our doctors with a reply or with an attempt to help.
Every bit of my diagnostic travels has revealed the tremendous absence of medical research and how we must fight for its funding.
However, as the rare, very sick patients, we are worn out from being forced to be our own advocates, our own doctors, our own final threads of hope.
Most of us do not possess the independent financial means to establish our our research foundations or fund our own scientists, but these are the last ditch proposals actually presented to us.
The way we are treated in general by the medical community is the absolute definition of medical neglect.
All we want for the holidays is a medical effort from researchers, professional disease detectives, and/or specialists who understand that we are not only their patients, but also the essence of their business, of their newest, most innovative discoveries. In the name of vital medical knowledge, let the giving commence. Ultra rare SPS patients and medical researchers, we are one another’s gifts, and we deserve attention.