A Patient's Personal Experience: "An Early Diagnosis Can Avoid Years of Suffering and Useless Therapies"
Publisher Note: This article was originally published online in Italy. You can view the orginial version here. To make this story more accessible, The SPSRF has provided a translated version below.
Valerio (not his real name) is a 60-year-old engineer who has been suffering from stiff person syndrome since 2020, a rare neurological disease that the famous singer Celine Dion recently declared to be affected by. This pathology is characterized by fluctuating stiffness of the chest and limbs, painful muscle spasms, phobia related to performing specific tasks, a tendency to jerk abnormally, and ankylosing deformities, such as fixed lumbar posture in hyperlordosis. To make people understand how important it is to promote knowledge of rare diseases among family doctors and specialists, Valerio decided to tell his story to Osservatorio Malattie Rare in a letter we publish in full below.
I title my story with a term in English that, until November 2020, I hadn’t paid any particular attention to; in fact, perhaps I didn’t even know its meaning. Since November 2020, however, this word has forcefully entered my vocabulary and my life, and I know it will never leave me again .
I am a 60-year-old man, an engineer; in 2008, I underwent thyroid removal for papillary carcinoma without any particular consequences other than the daily intake of levothyroxine and periodic checks; in November 2020, I was diagnosed with stiff person syndrome, a rare autoimmune neuromuscular disease that affects on average one person in a million and which, in my case, mainly involved my right leg.
For several months, I felt that my legs and back had become stiffer; I had difficulty putting on socks and tying my shoes. I thought that it was all due to my sedentary lifestyle and advancing age, then, suddenly, amid the second wave of the COVID pandemic, the spasms began: at night, during the day, continuously and more and more, in a period of great emotional stress for me due to the pandemic, work, and family matters.
I went to the family doctor, showing him my leg, my hammer toes, and my limp and explaining the symptoms that were keeping me awake at night: he gave me cortisone. He prescribed the first tests (i.e., lumbar MRI and electromyography), thinking of sciatica, but no effect from the therapy and no explanation for those symptoms. From there, the first neurological visits to two different specialists : they prescribed dorsal, cervical, and brain MRI, but still no pathology was detected that could give me my symptoms with certainty. There was an attempt at therapy with baclofen, but it had no effect. The symptoms continued to worsen until I had to go to the Emergency Room for a swollen ankle and leg that made me fear thrombosis, later excluded by a test. I also underwent a neurological visit and was then discharged in the middle of the night.
After 40 days of continuous suffering, tests, attempted treatments, and specialist visits, I had reached the point of being almost unable to walk except at the cost of extreme pain due to continuous spasms. I was very lucky to be able to be visited by the head of the neurology department of the hospital in my city, who admitted me immediately on November 5, 2020. They took a spinal fluid sample, blood tests, and many other tests in addition to all those that had already been done previously. In the meantime, high-dose cortisone via IV, diazepam, and plasmapheresis every other day; finally, the diagnosis, certified by the presence of anti-GAD65 antibodies in my blood and spinal fluid, which was communicated to me by the head of the department with all possible delicacy but, in summary, as follows: “You have stiff person syndrome.
Good news and bad news: the good news is that it is idiopathic, meaning it does not depend on a malignant tumor and that it is not a degenerative disease. The bad news is that she won't get better and will have to take treatment for her entire life to contain the symptoms, taking cortisone and diazepam and undergoing periodic plasmapheresis sessions."
On November 20, 2020, I was discharged from the hospital in much better condition than I was when I was admitted, and with this therapy: prednisone, diazepam, alendronic acid, cholecalciferol, lansoprazole, and a plasmapheresis every two weeks, in addition to levothyroxine. I got the exemption code RF0411, related to my specific syndrome.
A few days after being discharged from the hospital, I fell badly at home and hit my head, causing an injury: at that moment, in total panic, helped by my family, I understood that I would have to relearn how to walk, how to bend down, how to go up and down the stairs, how to turn around and act in everyday life, even at work, finally realizing that the disease I suffer from has disabling and conditioning effects and that my body no longer reacts to stimuli as before.
After a few months, gradually reducing the dosage, the head physician stopped taking prednisone, and then also alendronic acid, cholecalciferol, and lansoprazole, and 'bet' only on plasmapheresis every two weeks and diazepam. The situation did not worsen, in fact it stabilized enough to allow me to return to work and drive a car, obtaining the renewal of my driving license every two years.
In September 2021, the neurologist proposed treatment with quarterly botulinum toxin injections in my leg, a therapy that I gladly accepted and helped relax the tibial and ankle muscles and partially straighten my hammer toes.
In 2022, the neurologist authorized the lengthening of the interval between plasmapheresis to 3 weeks, and I continued for a year; then, from the beginning of 2023, we started the trial of increasing this interval to a month until a possible worsening of the symptoms: I hope I don't have to take a step back. Plasmapheresis is an immunomodulatory therapy that does not help the body react against viruses but instead makes it more fragile and, especially in times of pandemic, forces caution and sacrifices.
I undergo psychotherapy sessions to manage moments of anxiety and stress, which significantly affect the symptoms of the syndrome; I also undergo periodic cycles of physiotherapy aimed at reducing the stiffness of the leg.
Fortunately, fate placed me in front of a head of neurology who already knew the stiff person syndrome: this made the difference between suffering for months and years with non-targeted treatments, as happened and happened to many, and instead promptly managing the symptoms with therapies deriving from a correct diagnosis.
After the diagnosis and discharge from the hospital, I spoke to my family doctor, to the occupational physician at the company, and to many other doctors: no one had ever heard of the stiff person syndrome. I was also visited by a specialist from a neurological center of excellence in Italy, who told me that in his long career he had encountered only four other cases of this pathology.
I took the courage to tell my story, which is still at the beginning, to highlight once again how essential it is to meet a medical team that knows even the rarest diseases and how important it is that knowledge of these pathologies is extended more and more widely among all doctors, including general practitioners. Still, I also wanted to talk about my experience to thank the public health facilities that provide, with their staff and equipment, and with professionalism and patience, the therapies and treatments that alleviate the disabling suffering of the sick.
For countless rare syndromes like mine, and those even worse than mine, there are still no standardized treatment protocols available and, presumably, private companies do not invest in research to find the causes and treatments; there are not even standardized criteria yet to define the degree of disability that these pathologies entail. Therefore, I hope universities, hospitals, public health bodies, and associations will promote research, training, and information in synergy with the global scientific community. I trust that the law of 10 November 2021 n. 175, known as the " Consolidated Law on Rare Diseases," will bring about a tangible change of pace and results that will soon be usable by patients.
Finally, my story also wants to be a hymn to the family that, if united, supports us and helps us move forward.
Shared with permission from Osservatormio Malattie Rare
Originally published online on May 2, 2023.
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