Finding Purpose After Rare Disease Diagnosis

June 16, 2023

by Amy Gietzen, RARE Patient & Advocate

My entire life changed in the blink of an eye in February 2001. I had just turned 19 and was working on a nursing degree locally in college. Life was good or so I thought. For over 6 months I had been dealing with on-and-off pain in my wrists and elbows, along with swollen and sensitive fingertips. The symptoms got so bad that I was starting to miss school and work, something I had never done before. At that point, I knew I needed to do something about it, so I made an appointment with a local orthopedic specialist.

It took that specialist 20 minutes to figure out that I had Scleroderma. Looking back now, that was no easy feat. Scleroderma is a rare, chronic, progressive disease that only affects around 250,000 – 300,000 people worldwide. It causes your skin and blood vessels to become hard, tight, and constricted. There is no known origin for scleroderma nor is there a cure. I had no idea what that word even meant, let alone how to pronounce or spell it. I had the specialist write it down on a Post-it note. I left the office feeling numb, and worried.

The next few years are a blur as I had to undergo testing, procedures, bloodwork and so much more. Bloodwork confirmed that what I had was scleroderma, but to add insult to injury I was diagnosed with the more complex form called Systemic Scleroderma. Systemic Scleroderma affects the entire body, including vital organs like lungs, heart, GI tract, and kidneys.

It took several more years just to find appropriate care. I worked extremely hard to hand-pick doctors and specialists that were knowledgeable about scleroderma. I basically pulled up my bootstraps and got to work, not really dealing with the emotional fallout of living with an incurable disease. During this time, I developed Interstitial Lung Disease and arrhythmia issues in my heart. The hospital became a second home and I started feeling like I was fighting a losing battle. I needed a purpose in life and boy did I find one.

The Scleroderma community is a very loyal and fierce one, filled with patients, caregivers, family members, and advocates raising awareness and funds to contribute to the cause of research and finding a cure. I became engulfed in that community after I decided to take to social media and share my journey. I started a FB page called “Staying Alive with Scleroderma” and it took off like a rocket. After a year I had over 5000 followers and a support system like no other.

I realized after a while the grey areas in terms of support for young adults living with scleroderma. Being someone who was diagnosed as a young adult, I knew I could help. I worked hard with the National Scleroderma Foundation and other Non-profits to construct a young adult virtual support group called SYNC (Scleroderma Young Adults Needing Connection). I also devoted my time to structuring panels, education forums, and workshops geared toward issues young adults faced.

The scleroderma community built me up, boosted my confidence, and allowed me to grow into the advocate and educator I am today. It allowed me to carve out a safe space for young adults to live in their truth, and speak openly and honestly about their medical journeys.

Now 22 years after my diagnosis I have learned so much. I have built my name up as an advocate through honest interactions with patients, caregivers, nonprofit partners, and congressmen and women. I have lobbied for funding and research on capitol Hill, took to the streets to raise awareness by lighting up my local landmarks like Niagara Falls, and the Peace Bridge. More recently I have started a small company with scleroderma advocates, The Waiting Room Entertainment, to help patients with all forms of rare diseases grow into advocates, and network for opportunities to tell their stories and built up their life by doing positive work.

I have come a long way since learning of my diagnosis, not to say it has been easy or pain-free. I still have bad days where I question why this has happened to me. I think that is honest and real. No one is perfect, especially if you’re living a life with an illness that is taking days away from your life not adding to them, but I think there is a purpose for everyone in this world. It might have taken me some time, but I have found my purpose — to be a beacon of hope for all individuals living with scleroderma and to educate the world about the deficits people living with it acquire.

I know this disease will take my life before I am ready to go, but I will fight tooth and nail every step of the way until then, shouting out to the world about Scleroderma.