Heather Stokes

First post: Jun 20, 2020 Latest post: Jun 10, 2021
Welcome to my Caring Bridge page! I greatly appreciate your support and truly cherish every kind word, donation, and inspirational support message I receive. I am in the fight of my life against two extremely rare disorders, Linear Scleroderma with unexplained components of Systemic Scleroderma and Parry Romberg Syndrome. I am a one in a million case as Linear Scleroderma does not typically evolve into unexplained components of Systemic Scleroderma.  I am currently suffering from; muscle and tissue atrophy of the face and limbs,  weakness to entire left side of the body, pharyngeal weakness, tongue atrophy, dysphonia, neurogenic stuttering, ascending aorta aneurysm (4 cm), small airway dysfunction of the lungs, hemoptysis, vascular dysfunction, atrophy of mandibular bone, Necrobiotic Granulomas of the bladder, PRS related migraines from skull atrophy, Sialadenitis syndrome, tilted knee cap with a shallow trochlear groove caused by atrophy, Scleroderma related GERD, several dental disorders from shifting of jaw, and Cervical Degenerative Disc Disease with Spinal Stenosis. 

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 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 doctor's at UNC and Duke, but we are in search of a Parry Romberg Syndrome and Scleroderma specialist as my case is extremely rare and my symptoms do not following a normal trajectory. But, honestly what is normal in the medical world? Normal went out the window for me in 2016 and now all I know is the deep exhaustion that comes from dealing with rare diseases. Fighting a rare disease is extremely exhausting on multiple levels. You are fighting the disease itself, you are fighting to find specialists that understand your disorder, and you are fighting the doctors you can find to research and learn more about what is potentially killing you. 

For a little educational break, Parry Romberg Syndrome (PRS) is rare disorder characterized by slow, progressive deterioration of the skin and soft tissues of half the face (hemifacial atrophy), usually the left side. Initial facial changes usually involve the tissues of the upper jaw or between the nose and the upper corner of the lip, eventually progressing to the areas around the eye, brow, ear, and neck. The deterioration may also affect the tongue, the soft and fleshy part of the roof of the mouth, and the gums. The eye and the cheek of the affected side may become sunken and facial hair may turn white and fall out. PRS is also accompanied neurological abnormalities including seizures and episodes of severe facial pain. Muscles in the face may atrophy and there may be bone loss in the facial bones. There is no cure nor treatment to stop the progression of PRS.

Next we move on to Systemic Scleroderma (SS). SS is rare, chronic, autoimmune rheumatic disorder characterized by degenerative changes and scarring in the skin, joints, and internal organs and by blood vessel abnormalities. SS causes an overproduction of collagen and other proteins in various tissues. The usual first symptom of SS is thickening and tightening of the skin at the ends of the fingers, heartburn, difficulty swallowing, shortness of breath, aches and pains in joints, and inflammation of the muscles. Eventually the disease symptoms include acute kidney disease, pulmonary hypertension, lung inflammation, gastrointestinal issues, vascular disease, cardiovascular dysfunction, and musculoskeletal abnormalities including severe muscle atrophy, So far I have cardiovascular, pulmonary, muscular, tissue, and urinary symptoms. There is no cure nor treatment to stop the progression of SS , with an average life expectancy of 3 -5 years after diagnosis. 

Before we get too depressed, this section is titled "Heather's Story" so I should give a little bit of background about me. I was born and raised in North Carolina. I went to undergraduate at UNCG and received two masters degrees from the University of Colorado. In what I consider an interesting irony, I have worked the last ten years in the pharmaceutical world of drug development. On a personal note, I have been blessed in more ways than I can even begin to count. I have a wonderful, although sometimes lovingly dysfunctional family, the most loyal and caring set of friends, and continue to be blessed with a roof over my head and food on my table. I have had the absolute joy of watching my three Godsons grow into  intelligent, soulful young men. I am world traveler that has seen things that many have only read about in books. I have climbed the stairs of the Eiffel Tower, taken a toboggan down the side of the Great Wall of China, attended a full moon party at the Bomba Shack on the British Island of Tortola, and climbed Audubon Mountain in Colorado. When I started to become sick in 2010, I refused to let my illnesses keep me from living my best life. And what a life I have lived. While I consider myself well adjusted and content, even looking down the barrel of a disease that will most likely take my life, I have regrets and loss like everyone else. But I absolutely refuse to dwell in the past, or let these diseases take the joy from my life. I have started this page to not only to fight these diseases, but to also let others know that there is happiness and joy in life, even in the face of fighting two horrific diseases. 

As I currently gather all the strength I have to continue this fight, I have made it my mission to educate and inform others of these diseases and ask for your help in my mission. I am also asking for support during this fight. Please reach out, please research  Scleroderma, Systemic Scleroderma and Parry Romberg Syndrome, and please take time out of your day to give thanks for your own health. Thank you in advance for all of your help in my fight!

 



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