Navigating a Rare Disease Led to Finding a Greater Sense of Purpose

My Story

"Navigating a Rare Disease Led to Finding a Greater Sense of Purpose"

I’m writing this on a Saturday afternoon while sitting at the ice-skating rink for my daughter’s figure skating lesson. She glides over to me and taps on the glass asking me to watch her do a forward scratch spin, which after much practice, she now does perfectly.

Any mom would be proud to watch her daughter spin effortlessly and endlessly on the ice balanced on a single blade, but for me, it’s so much more; it’s a moment of profound gratitude. This is the same child who hobbled in pain and couldn’t put on her own shoes when she was at her sickest. I will always be thankful for the many medicines that helped her and especially grateful for the physicians, nurses, physical therapists and occupational therapists who helped her regain her health and taught us to manage her condition.

Our daughter was a perfectly healthy child, until she got sick in kindergarten with baffling symptoms, such as hardened skin, huge lymph nodes, swollen legs, severe hand contractures and pain/stiffness throughout her little body. Like many patients with a rare disease, she saw many specialists, endured numerous tests and diagnostic procedures and went many months without a diagnosis while her condition grew progressively worse.

She was eventually diagnosed with a rare autoimmune disease called localized scleroderma. Localized scleroderma affects only 1 child out of 100,000 in the United States. It is a rare disease, and our daughter has the most rare form of it. Our pediatrician at the time, who was a top-educated physician with decades of experience, was open and honest in admitting that he had never heard of this exact condition.

The first couple years after her diagnosis were extremely challenging for her and for our family. She was on numerous medicines and experienced some challenging side effects. I had to put my career on hold and stop working for more than a year so that I could take her four days a week to a children’s hospital, in addition to many other medical appointments. Our daily life as a family changed so much, and I often felt lost and exhausted. I had a hard time rebuilding my professional work after this, which was frustrating and discouraging.

However, I ultimately gained a greater sense of purpose in my work in healthcare communications, and I also discovered my passion for advocacy work. A couple years ago, I had the chance to serve on a clinical trial design advisory board for a potential scleroderma treatment. I currently work in a role at myTomorrows that allows me to use my healthcare communications skills, while also working with patient advocacy groups. My work resonates with me professionally and personally because myTomorrows helps patients with unmet medical need (and their physicians) find clinical trials and expanded access programs.

A few years ago, I was invited to join a (volunteer) working group of physicians and parents/caregivers of kids with scleroderma. The group, which aims to bring the patient/caregiver perspective into research, is organized through the Childhood Arthritis and Rheumatology Research Alliance (CARRA). CARRA is a wonderful organization that recognizes patients/caregivers as experts in their lived experience and creates pathways to involve patients/caregivers in many different types of research alongside physicians and researchers.

We have worked on several projects, including a “Barriers to Care Survey” where we investigated the challenges that families face in getting a diagnosis and treatment for scleroderma. This project was especially meaningful for me because I know firsthand how tough some of those challenges are. Although we lived in a large city with several academic medical centers and had excellent health insurance, we had a hard time accessing a specialist and obtaining a diagnosis for our daughter. We were advised by her physicians, that our best chance to see a pediatric rheumatologist was to “try to catch one” while we were in the children’s hospital for her biopsy surgery. This struck as me as extremely odd, and it was impractical because our daughter was just coming out of general anesthesia and experiencing a fairly severe case of emergence delirium when we finally managed to “catch” the pediatric rheumatologist who was at the hospital that day.

On the other hand, I am very aware and appreciative of the fact that my family had very good circumstances (employment, excellent health insurance, two parents with working knowledge of the healthcare system, etc.). So many families lack those resources and advantages.

As someone who faced a rare diagnosis, I know firsthand how much need there is for patient-friendly information. I was glad to volunteer earlier this year to help rewrite patient-friendly copy for the National Scleroderma Foundation’s website, as well as help design content for a national conference and host a panel.

Although our daughter is doing very well almost seven years later, she still faces some challenges. There is no cure for her disease, and she regularly suffers from joint pain and takes medicine that makes her immunocompromised.

Policies such as prior authorization affect our daughter and our family. We are currently waiting on a prior authorization for an off-label biologic that our pediatric rheumatologist wants to prescribe. Last time we started a new biologic, we waited months for the prior authorization. I know that waiting can be dangerous for patients who face an aggressive disease that could cause permanent damage, so this is always a stressful experience.

Policy issues like step therapy also hit close to home for me. Methotrexate, which is typically the first-line standard treatment for the type of scleroderma that my daughter has, is hard to tolerate for many kids. The weekly injections caused nausea and vomiting, and many missed days of school, as well as anticipation anxiety of the injection, for our daughter. It makes me sad to think that some patients may be forced to suffer just to prove that a medication doesn’t work when their physician would prefer to prescribe a different treatment from the beginning.

Having relied on off-label drugs for the past six years for our daughter, I am very passionate about the need for newer and better treatment options for scleroderma. I will keep using my voice to help raise awareness about the need for more treatment options for future patients.

Being part of this Patients Rising Masterclass was an enlightening experience for me because it was an opportunity to learn in detail from many experts about critical health policy issues that have affected my family — and more importantly, discover what I can do to help make a difference for other patients in the future.