By Heather, Parry Romberg Syndrome, United States, February 22, 2021
I am in the fight of my life against two extremely rare disorders, Scleroderma (with components of Systemic Scleroderma) and Parry Romberg Syndrome (PRS). I am currently suffering from muscle and tissue atrophy of the face and limbs, pharyngeal weakness, tongue atrophy, dysphonia, weakness of the soft palate, neurogenic stuttering, an ascending aorta aneurysm, small airway dysfunction of lungs, hemoptysis, multiple brain lesions, atrophy of the Mandibular bone, necrobiotic granulomas of the bladder, Sjogren's syndrome, several dental disorders caused by PRS, and cervical degenerative disc disease.
Without a doubt the hardest thing that I deal with in-regards-to my illnesses is chronic pain. Scleroderma tightens the skin so tight around the body that many individuals with the rare disease feel like they are wearing a straitjacket of their own skin. PRS patients feel like their skulls are splitting down the middle, with each side of their face taking on different characteristics. When I awake in the morning, I am brought to tears with the throbbing in the back of my skull and aching in my right shoulder. I stand up to get out of bed and brace my right hand on the nightstand. Many mornings the atrophy in my left leg is so bad that my leg will literally buckle under the weight of my body. To keep from stumbling I use the furniture in my room to navigate to the bathroom. My days are spent with blinding migraines, many caused by the creation of a demarcation line in my forehead. This line forms between normal skin and skin infected with Scleroderma and is quite common with PRS patients. My eyesight has gone blurry, my ears ring from the heaviness on the eardrum, my entire skull is trying to collapse on itself. Concentrating on work or social interaction takes an enormous amount of energy. I collapse into bed each night exhausted from the mental weariness of the day, my muscles aching, my neck throbbing. Somedays are better than others, but all in all, it is a rough existence. But I never let my pain take away my hope, or faith that I will someday awake in remission, my head clear and my organs saved. It can happen, I know it.
It took three years of searching, fighting, screaming, and crying in front of over ten different specialists in three different states to finally get my Scleroderma and PRS diagnosis. Unfortunately, the delay in diagnosis has allowed these diseases to lay claim to my body, and now specialized treatment is more important than ever. I have wonderful doctors that I am extremely grateful to have care for me, but we are still in search of a PRS and Scleroderma specialist. My case is extremely rare as my symptoms do not follow a normal Scleroderma trajectory. But honestly what is normal in the medical world? Normal went out the window for me in years ago and now all I know is the deep exhaustion that comes from dealing with rare diseases.
Fighting a rare disease is extremely arduous on multiple levels. Many of us that are battling a rare disease simply want others to understand that suffering from an uncommon illness can be much more difficult than fighting a well understood and researched disorder. Individuals fighting rare ailments spend long hours searching for a doctor with some amount of familiarity with their disorder, and finding such a specialist can take weeks, months, and sometimes even years. My search took three years! During the treatment time lost seeking a doctor, the rare disease continues to ravage a patient's body while they battle strange symptoms and pain with no medical support. These warriors must struggle to receive a proper diagnosis as patients can on average visit 3 – 5 specialists before ever getting confirmation of their rare disease. And while you would think that receiving the diagnosis would be the end of the uphill battle and lead to an easier go of it, finding treatment options for a rare disease is often just as difficult as it was to find the specialist, and often times just as expensive.
It is my goal to raise as much awareness of Scleroderma and PRS as I can so that the medical community knows to look for it, potential patients are familiar with the diseases, and in turn patients are not left without treatment for years. The time that it takes from the start of symptoms, to actually receiving a diagnosis for Scleroderma and PRS patients can cost some individuals their eye (PRS), their kidney (Systemic Scleroderma), or worse yet....their life (Systemic Scleroderma). Scleroderma has the highest mortality rate of ANY autoimmune disorder but receives the least amount of funding. It is imperative that we raise awareness of these diseases to the medical community and potential patients. Even though I suffer from two extremely rare and hard to treat aliments, I believe that I am one of the lucky ones. I have health insurance, an amazing friend and family support network, and hope in my heart that at a minimum, treatments will be discovered in my lifetime for both Scleroderma and PRS. On February 28th I will say a prayer that not only do Scleroderma and PRS patients live to see treatments and a cure, but that all sufferers of rare diseases avoid the uphill battle that I had to fight to receive a diagnosis and treatment. Let 2021 be the year that we finally start raising awareness of what it truly means to suffer from a rare disease and implement change!