Hello, my name is Melissa. My journey with scleroderma began with symptom onset in 2008. I sought immediate care from a rheumatologist, but was not diagnosed until 2017 with undifferentiated connective tissue disease (UCTD). I continued to develop worsening symptoms with internal organ involvement and was ultimately diagnosed with limited systemic sclerosis with overlap syndrome around 2021.

Symptoms Leading Up to Diagnosis:

My early symptoms were vascular in nature. I developed Raynaud’s in my hands and feet, along with a separate disorder called chilblains that affected my feet. I also began experiencing widespread joint pain and fatigue. I sought care quickly as I believed it to be autoimmune-related. Unfortunately, my labs were always pretty normal, including my ANA level. I developed hand and feet swelling and mild skin tightness on my fingers early on as well. I also had skin nodules on various parts of my body that could not be explained. Biopsies were inconclusive but suggested connective tissue disease. It wasn’t until 2018 that I began experiencing internal symptoms, such as esophageal reflux, spasms with swallowing, lower GI symptoms, arrhythmias, and palpitations.

The Diagnosis Journey

My diagnosis was extremely difficult. For nearly 10 years, I saw a rheumatologist every 2-3 months and never received any diagnosis, despite my persistence and repeated questioning. I changed doctors in 2017, which brought the UCTD diagnosis and also led me to a few scleroderma programs where I underwent more testing. Over the years, I have seen 5 separate rheumatologists. I believe, right now, I have approximately 12 or more physicians, including specialists and several subspecialists for the same organ (e.g., 4 GI providers, 3 cardiologists). In 2021, after undergoing several invasive GI procedures and seeking out a new scleroderma center in my state, I finally received an overlap diagnosis of limited scleroderma and UCTD. I think I also have Sjogren’s and possibly a variant of Ehlers-Danlos Syndrome as well, but testing has been inconclusive to date.

Thoughts After Diagnosis

I always knew I would be diagnosed with scleroderma. I’m a nurse and had previously cared for a scleroderma patient once. Her case always stuck with me, and so, from the onset of Raynaud’s and the mild skin tightening, it was clear to me what it was. But because my labs and other presenting symptoms were normal or inconclusive, it was very difficult to get doctors to agree with me. So, when my diagnosis finally came, I was relieved that someone finally believed me. I was gaslit for so long and told there was nothing wrong with me for years. Normally, being diagnosed with a rare and potentially life-threatening chronic disease would bring a lot of anxiety and fear; but for me, it was relief and validation. Certainly, I was scared at times, and still am as my disease is progressing; but for me, the overwhelming feeling was always validation.

Treatment plan and results:

Fortunately, I was started on treatment even before I ever had a diagnosis. My doctors did feel I had some level of autoimmunity, but it hadn’t presented itself enough for diagnosis for many years. I was recently started on immunosuppressants due to new cardiac involvement. We are trialing several different options to see what combination works best. I also have a combination of pharmaceutical and herbal products that I use to treat my myriad of gut symptoms, with varying levels of effectiveness. It has been a difficult journey trialing numerous treatment protocols to find what works and what doesn’t.

Support Systems

My faith in God is extremely important to me, and my trust in Him is my biggest support system. I am very grateful to have a strong support system comprised of my family, friends, colleagues, church community, online support group communities, and most recently, a local support group which I co-lead.

Helpful Coping Techniques

My favorite techniques to use are to engage in activities I love. I am a very active person and love being outside. So, anytime I can get out for a run, bike, hike, paddleboard, or walk by a river or lake, I am a happy girl. I also enjoy photography and typically pair it with one of the activities above.

Other techniques I use include different mindfulness practices like journaling, meditation, prayer, gratitude, and taking time for self-care such as massages, float therapy sessions, or simply resting while reading.

Words of Wisdom to Others on the Same Journey

You are NOT invisible. Like many other autoimmune diseases, scleroderma can be considered an invisible illness. We experience many symptoms that others cannot see nor understand. I want people to know that I understand. I see your pain, frustration, sickness, fatigue, and hurt. You are not alone, and you are not making up your symptoms.

Keep searching for answers. Be an active participant in your healthcare journey. Learn how to be a more effective self-advocate. Become active within the scleroderma community. You’ll find a greater sense of purpose if you step outside of your struggles and help someone else.

Hopes for the Future

Recently, I wrote a book on these topics. I am actively engaged in sharing my personal and professional experiences with scleroderma, in an effort to encourage and empower others to live a more balanced life with scleroderma or other autoimmune diseases. I want people to feel heard, seen, and validated. So, my hope is that people have an opportunity to learn about the book and identify strategies they can incorporate into their life to make it a little easier. Beyond this, I want to find a cure for this awful disease. So, I participate in research studies through my scleroderma program. I am also participating as a patient educator to teach rising healthcare students about scleroderma through the Steffens Scleroderma Foundation.

Information about my book can be found here and here.

Editor’s Note: Original author Melissa Marquis has over 25 years’ experience as a nurse and 16 years’ experience in Emergency Preparedness and Management. Melissa has several autoimmune diseases including limited cutaneous systemic sclerosis. Her long and arduous healthcare journey, combined with her experience in the healthcare field, inspired her to write a book that aims to provide education, understanding, and empowerment.