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In the field of rare diseases, stiff person syndrome (SPS) stands out as a complex and debilitating condition that affects a small proportion of the population. Often misdiagnosed and misunderstood, SPS only recently came to the fore after Grammy-winning singer Celine Dion revealed that she had been diagnosed with a rare neurological disease.
Although SPS is rare, it has a significant impact on the lives of those affected. SPS is characterized by muscle stiffness and spasms, often accompanied by debilitating pain, and can significantly impair mobility and daily functioning. The definitive cause is still unknown, but many theorize that it is an autoimmune disease that attacks the nervous system. Like many other autoimmune and neurological diseases, SPS leaves patients and healthcare providers grappling with uncertainty.
SPS most commonly affects people between the ages of 40 and 50. SPS is more commonly diagnosed in women than men, and is thought to affect 1 to 2 people in every million people. However, SPS experts now believe that SPS is part of a variety of diseases, meaning it may be more common than originally thought.
Celine Dion hopes to continue performing after being diagnosed with stiff person syndrome: ‘I missed it’
There is currently no cure for SPS, but there are several treatments that can help manage symptoms and improve quality of life.
One of the most challenging aspects of all rare diseases, including SPS, is the ability to recognize the symptoms and diagnose the disease. Often misunderstood as a psychosomatic disorder or lumped into a broader category of neurological disorders, patients with SPS often go through a long and frustrating time before receiving an accurate diagnosis. Lack of awareness among healthcare professionals exacerbates this challenge, leading to delays in treatment and worsening of symptoms. As a result, patients not only deal with the physical symptoms of the disease, but also the emotional strain of navigating a health care system that is ill-equipped to meet their needs.
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Shedding light on rare diseases often requires grassroots efforts organized by patients themselves. Moira Papp is an otherwise healthy 56-year-old mother of three, but after receiving the shocking news that she had SPS, she decided not to become an observer. Like many other women who receive difficult medical diagnoses, she knew she needed to do everything she could to ensure she was present for her children.
When we asked Moira about her journey and diagnosis, she had this to say: She said, “After my symptoms were constantly ignored and I fell at my son’s baseball game in front of a large crowd, I decided to go to the Mayo Clinic and get answers.”
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She added, “Women should trust their instincts. The medical world is busy and our hands are tied by the constraints of the current medical environment. Believe in yourself and never accept answers that are only in your head. Please continue to advocate.” She said, “For yourself. Keep pushing until you get an answer. Don’t take no for an answer.”
Following her diagnosis, she decided to get involved and said: “It was my job to find out who was doing what in the field of rare diseases.” Moira now works with the Stiff Syndrome People Research Foundation (SSPRF). Rare disease patient registries: Building rare disease registries will advance research and help identify these often underdiagnosed diseases. This is extremely important in deepening our understanding of
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Rare disease registries serve as catalysts for research by fostering collaboration between academic institutions, the pharmaceutical industry, and patient advocacy groups.
For people living with SPS, each day unfolds as a delicate balancing act, navigating the unpredictable terrain of their bodies while clinging to hope and perseverance. In the face of limited treatment options and insufficient research funding, SPS patients and their allies continue to rally and raise awareness to transform isolation into unity and uncertainty into action.
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