Each year, the Steffens Scleroderma Foundation hosts a fall dinner to honor those who have been stalwart supporters of its mission and to raise funds to advance research and education. The popular event includes a cocktail hour, full course dinner, a silent auction, and an awards presentation honoring those who are making a difference in the scleroderma and Degos disease communities.
Lou Renna was a son, husband, father, grandfather, brother, uncle, and friend to many. Lou battled scleroderma for approximately ten years and his journey was not an easy one. Over the years, the disease caused physical changes and robbed Lou of his energy and strength, but never altered his spirit or courage.
Scleroderma is a very difficult disease to diagnose, as it was for Lou, and presents differently in everyone. Lou’s first symptoms were Raynaud’s, telangiectasias on his face, and tightening of the skin on his legs. As the disease progressed, Lou developed pulmonary hypertension, GI symptoms, and compromised kidney function. Lou took various medications, and used oxygen to help manage the progression and symptoms of his disease.
Lou channeled much of his time and energy into raising awareness and funds in hopes of finding a cure for scleroderma. He was a member of the Steffens Scleroderma board of trustees and extremely dedicated in his support of the Steffens Scleroderma Foundation’s efforts. In fact, five days before his sudden death in 2017, feeling tired and short of breath, Lou attended the annual Cruise for a Cure fundraiser aboard the Dutch Apple with the hope of raising awareness and money to help fight this terrible disease.
How would you feel if a doctor told you to “get your affairs in order”? That is what Amy Gietzen was told when she was just 19 years old.
Amy had been experiencing severe joint pain and swelling in her wrists, hands, shoulder, and elbow. At first, she attributed her symptoms to the physical requirements of her job. When they persisted, she went to a doctor and was diagnosed with Raynaud’s disease. An orthopedic doctor later diagnosed her with scleroderma, a rare vascular condition that leads to the hardening of the skin and connective tissue. This was just the beginning of a long, winding, and challenging journey.
At the time of diagnosis—when the doctor recommended that she get her affairs in order—Amy was attending college to be a nurse, working, and having fun with friends. She was devastated by what the doctor told her. She tried hiding her condition from her friends and co-workers; however, a lot of physical changes were happening such as the skin on her hands was getting tight and she was getting ulcers on her fingers. As her condition progressed, Amy had to have fingers amputated and has endured numerous surgeries. She has had to figure out simple ways to do daily tasks. Amy has also dealt with a range of emotions, including anger and grief at the loss of independence and feelings of guilt because her parents have spent their retirement years caring for her.
As a rare disease, scleroderma is not only hard to diagnose, but also challenging to find the right doctors to help treat it. For Amy, it took five years to find the right team of doctors needed to treat her condition. Amy lives in Buffalo, New York, but travels to Pittsburgh, Pennsylvania to see most of her physicians. Her healthcare team is comprised of a general practitioner, 2 rheumatologists, 2 pulmonologists, a cardiologist, a gastroenterologist, a pediatrist, an ophthalmologist, and a dental specialist. All of these physicians need to communicate with each other in order to stay abreast of and coordinate Amy’s care.
Even though scleroderma altered her hopes of being a nurse and her dreams of getting married and having children, Amy has persevered for 18 years and counting since receiving the diagnosis and she has become a tireless advocate, raising awareness about the condition and inspiring others along the way. She has spoken to countless medical students across the country and, since 2017, has been a keynote speaker at the Steffens Scleroderma Foundation’s Interprofessional Education (IPE) forums. Additionally, Amy has spoken to members of Congress as part of patient delegations in support of legislation that will benefit scleroderma and other rare disease patients. She also serves on the board of the Scleroderma Foundation Tri-State Chapter board and sits on the Patient Advisory Board for SPIN (The Scleroderma Patient-centered Intervention Network). While Amy struggles every day, she has found a way to turn the negative into a positive by sharing her story and being an advocate for the scleroderma community.
Almost ten years ago, I awoke to an inflamed sore on my right thigh. Within weeks, there were many more on my limbs and torso. My Dermatologist, at that time, could not give me a definitive diagnosis for these lesions. I searched the internet for skin lesions with a white center and red surrounding. Devastating stories of Degos disease fatalities popped up. After about two years of investigation it appeared that the disease was only effecting my skin. Being an RN helped me to understand that, even though this was life-altering, I believed it was not going to kill me. One year later, when I was hospitalized with severe abdominal pain, nausea and vomiting, I explained to the gastroenterologist that it could be an internal type of Degos that also effected my skin. He listened but did not indicate that he was familiar with the diagnosis. He did try to further visualize my gastrointestinal tract but did not see anything that would cause my symptoms. My abdominal symptoms became more acute, but finding a doctor to treat me became very bleak.
Thanks to the support of my family, I did not give up. I was able to find Dr. Lee Shapiro of Albany, NY, a Rheumatologist and expert in the treatment of Malignant Atrophic Papulosis (MAP),the clinical term for Degos disease. Dr. Shapiro started an immediate and resolute campaign that put me on a path to an accurate diagnosis of Systemic Degos disease and an effective treatment plan.
In an effort to ensure the same treatment and outcomes to those who develop Degos lesions, I modernized and began maintaining the Degos Disease Support Network website. Dr Shapiro introduced me to fellow survivors and involved me in the Steffens Scleroderma Foundation. I was led to the doorstep of the Steffens Foundation and was accepted with open arms. My goal as a Steffens board member, is to help all Degos patients and their physicians discover the Steffens Foundations where education, advocacy, and awareness flourish. The foundation aspires to share and centralize knowledge so that standards of care for MAP can be established within the global medical community.
It is now going on ten years since that first lesion appeared. In that time, many Degos patients have been diagnosed and Dr. Shapiro and the Steffens Foundation have advocated for each and everyone of them so that they have a fighting chance for survival.
Ernie was 15 years old when he started developing small spots on his abdomen. The spots looked like red rings with a white depressed center. The pediatrician thought the spots were caused by a viral skin infection (molluscum contagiosm) and said they would go away on their own. However, the spots didn’t go away. Ernie got more of them all over his stomach and back as time went on. Ernie’s parents grew concerned and made an appointment with a dermatologist who biopsied one of the lesions. The biopsy came back indicating that Ernie either had lupus or something called Degos disease. The dermatologist did a second biopsy on a mature lesion and the results came back that Ernie had Degos disease. He was 17 years old when he was diagnosed.
During Ernie’s senior year of high school, he experienced such severe abdominal pain that he had to make multiple trips to the Emergency Room where imaging failed to show any visible reason for his pain. He was referred to a gastroenterologist. On Christmas Day of 2009, Ernie had severe abdominal pain with a fever and vomiting. He went to the hospital where they did an exploratory laparotomy and discovered he had lesions covering his small and large intestines and one or more of those lesions had perforated causing an obstruction. That was when Ernie and his family knew for certain that he had a systemic form of Degos disease.
Ernie seemed to improve for a couple days, but then went downhill rapidly, his blood pressure spiked, he developed a fever of 107, and his bowels stopped working. The doctors, who were not familiar with Degos disease, did what they could to keep Ernie alive. Dr. Lee Shapiro, a rheumatologist who was on Ernie’s case from the beginning of his diagnosis, sent an email out to medical colleagues asking if anyone knew of any new treatment for Degos disease. He received a response from a doctor in New York City who was treating a patient with systemic Degos disease with a drug called eculizumab, and this patient responded very well. Dr. Shapiro and Ernie’s healthcare team were able to get that same drug delivered to Ernie at Albany Medical Center in two days under compassionate use. Within hours of Ernie getting infused, he started to improve. Ernie’s family calls it “a miracle” since he was so close to death and, at the time, there was no known treatment for this condition.
Ernie improved slowly and was able to return home to recover and go to physical therapy. He continued with bi-monthly infusions of eculizumab and was able to go back to school and graduate with his class in 2010. As time went on, Ernie developed a lesion on his brain and lesions in his bladder. Dr. Shapiro found another drug (treprostinil) that Ernie was able to get through compassionate use. This medicine, at that time, was given by constant subcutaneous infusion so Ernie had to wear a small pump. When the FDA approved treprostinil in 2014, he was able to take it in an oral form.
Remarkably, Ernie’s condition improved and he was able to return to college. In 2016, he graduated with his bachelor’s degree in biology from Sage College of Albany and he was accepted into the nursing program. His dream was to work alongside the doctors who had saved him years earlier.
By January of 2016, however, Ernie’s condition worsened. He started retaining fluid in his abdomen and eventually his lungs and heart became covered with fibrotic tissue. Ernie continued to bravely battle Degos disease, including having a pericardiectomy at New York Presbyterian Hospital in March 2018. He tried to do everything he could to live. In late August of 2018, Ernie confided in his fiancée that he was exhausted and tired of fighting a disease that wouldn’t relent.
Ernie was the strongest person that his family and friends ever knew. He fought Degos disease with everything he had and he never wanted to be called sick. He had an amazing sense of humor and a strong Christian faith. If there was one person who didn’t deserve the lot picked for him it was Ernie. The phrase “the good die young” was never truer than in Ernie’s case. Ernie’s hard-fought battle continues to inspire his doctors and the Steffens Scleroderma Foundation to keep fighting for better treatment and, someday, a cure for Degos disease.
Steffens Scleroderma Foundation
P.O. Box 38037
Albany, NY 12203