Amy Gietzen was 19 years old and in her second semester of nursing school at Trocaire College as a dietary supervisor when she started experiencing stiffness, swollen joints in her fingers and wrist, and sensitivity to cold and heat. Concerned, she underwent testing at her doctor’s office, which revealed she had systemic scleroderma, a rare degenerative autoimmune disease. “At that time, I had no idea what scleroderma was or even how to spell it,” Amy recalls. “I tried looking for more information online and resources were limited. My doctor told me to begin getting my affairs in order, this disease kills.”
Amy was devastated by her diagnosis and frustrated by the lack of care options in her city, which had no scleroderma specialists. Her doctors in Buffalo, NY, were only able to monitor her symptoms, which were progressing steadily. Amy started experiencing pulmonary fibrosis, Raynaud’s disease in her hands, trouble swallowing, and other complications.
“I wanted to be more proactive in my treatment, so I did some research and found a specialist in Pittsburgh, PA,” Amy says. “I felt so relieved and excited at my first appointment when everyone there knew about scleroderma and were incredibly informative and helpful.” Amy has been working closely with her care team in Pittsburgh ever since.
Researchers are still unsure what causes scleroderma to manifest, and there is no treatment that can cure or stop the overproduction of collagen that is characteristic of scleroderma. The condition affects the skin, vascular system, capillaries, blood vessels, and other organs like the heart and lungs. Each person living with scleroderma is affected differently, which makes it difficult to designate a standard of care treatment for all patients.
“When I was diagnosed 20 years ago, there was one medication that they gave everyone with scleroderma because there was evidence that it did help symptoms for some patients,” Amy says. “I was on that treatment for about 10 years before it became ineffective for me. Today, there are new medications and treatments for other comorbidities.”
After stopping the first treatment, Amy tried a form of chemotherapy that, for a time, helped improve her skin elasticity and her breathing issues. She then stayed on a treatment that was administered monthly by IV for seven years. Today, Amy takes a biologic medication which has helped increase her flexibility and mobility. Through these treatments, symptoms of scleroderma that affect Amy’s skin have remained under control. With her care team in Pittsburgh and her rheumatologist in Buffalo, Amy has been able to coordinate treatment plans that can be done at home.
Advocacy Work & Clinical Research Participation
Amy’s advocacy work began with her own independent research for resources. On Facebook and Myspace, she found other patients and support groups on the local and national level. She began attending meetings, but soon felt isolated when she realized there was no programming geared towards young adults with scleroderma. This experience inspired Amy to start her own Facebook group, Scleroderma Superstarz. “After starting the group online, I started accepting speaking engagements and talking about my journey with others. Through the National Scleroderma Foundation, I started the young adult virtual group, SYNC,” Amy shares.
SYNC meets every other month via Zoom and is designed for patients ages 18-40, with young adult panel sessions that focus on relevant topics like dating, working, and navigating social gathering with scleroderma. “I’ve recently handed the program over to two younger leaders, but I’m very proud of my work with the program,” Amy says.
Amy is passionate about clinical research and does what she can to participate. “At this point in my disease, I am not eligible for most clinical trials. I have applied for several but was not accepted because I’ve been living with scleroderma for so long,” Amy notes. “I do think it’s important that patients participate in clinical research when they can, but they should also understand what they participate in.”
Despite her ineligibility for clinical trials that involve medications, Amy has submitted x-rays of her lungs, as well as blood and urine samples for research. Amy is an advocate for finding an easier way to disseminate research results so patients have access and can understand them. In addition to her advocacy work, Amy completes research surveys detailing her disease symptoms, joins focus groups for research organizations, and serves on several patient advisory boards to help make clinical research more accessible to patients.
Amy also shares from her learned experience the importance of improving communication between patients and research teams during a clinical trial. “Patients need more opportunities to communicate their experiences and ask questions to those who are developing and conducting the study.”
“One of my greatest accomplishments as an advocate has been my work with the Steffens Scleroderma Foundation in Albany, NY,” Amy shares. For the last five years, Amy has served as a keynote speaker at an educational event where medical students from partnering colleges attend and meet scleroderma patients. This event teaches students how to practice collaborative care and gives upcoming healthcare professionals first-hand knowledge of scleroderma, something critically needed for improving the diagnosis and treatment of scleroderma patients.
“One of the biggest challenges the scleroderma community faces is building awareness and making it a household name. If we could get the notoriety that other diseases have, that would be a big help for research funding.”
The Waiting Room Entertainment Group
A current initiative Amy is working on is the formation of a group with other advocates in the scleroderma community, with the aim to share resources and bridge gaps currently existing for scleroderma patients. Alongside her co-founders, Amy has helped bring The Waiting Room Entertainment to life. The group has launched several initiatives, including a YouTube channel that interviews other organizations that provide disease-specific resources and answers complex questions patients may be facing like how to fill out adult disability forms, how to transition from pediatric to adult care, or how to advocate to your doctors. Additionally, Amy and the other co-founders have started a social club where patients can meet, connect, and network with each other. Jacob’s Hugs, another service the Waiting Room Entertainment provides, was coined after a close friend and prominent advocate in the scleroderma community passed away. The Waiting Room Entertainment developed a registry where patients can list two next of kin contacts who can then notify the group if a patient’s medical status changes or they pass away so the community can mourn and honor their life. “It’s a community-based end-of-life service where we work to honor scleroderma patients,” Amy says. Newly founded, The Waiting Room Entertainment has various initiatives planned to keep an eye on.
The Future of Healthcare
In years to come, Amy hopes to see major changes in the healthcare industry that will improve outcomes for patients living with rare diseases like herself. Better access to care, diversified healthcare services, clinical trial program improvements, and potential cures for rare diseases like scleroderma are all a possibility.
“The medical universe is vast and complex with moving parts of all shapes and sizes. The one thing that is constant is that without clinical trials and the participation of patients, proper treatments for diseases would be nonexistent,” Amy reflects. “Building a bridge to oversee both is the way to achieve success, and brick by brick we are laying the foundation for a solid pathway to medical breakthroughs!”
To search for medical conditions in a specific location, visit our Search Clinical Trials page.
To stay informed about clinical trials, visit our Resources page.
For volunteer opportunities with CISCRP, visit our Volunteer page.
Written by Lindsey Elliott, Marketing & Communications Manager, CISCRP | firstname.lastname@example.org