Meet the Unmet: Elevating the voices of the rare disease community

Written, paid for and posted by Sanofi.

“Having a rare disease is not the end. It’s actually the beginning,” shares Vesna, 36, a wife, mother, sister, friend, rare disease activist and person living with Gaucher disease, a rare genetic disorder that impacts the body’s ability to break down fatty lipids. Vesna, born and raised in the country of North Macedonia, represents just one of the estimated 300 million people globally who live with one of the approximately 7,000 known rare diseases.

The diagnostic odyssey of confirming a rare disease can be lengthy and emotionally turbulent - in some cases, taking up to 10 years or longer for a diagnosis to be confirmed. The physical and emotional turmoil that patients, their families, and caregivers endure is not only unimaginable to most but also largely hidden from the public eye. Yet that hasn’t stopped this community from persevering against the odds, despite the general lack of awareness and representation of what it’s like to live with a rare disease.

“When you get the diagnosis, it’s not a death sentence. It’s life changing, yes, but it doesn’t have to be a change for the worse,” shares Vesna.

Diagnosed in 1991 at the age of seven, Vesna spent years living with uncertainty, emotional distress, and physical pain due to a broad lack of knowledge or availability of information on her condition in her country. All she and her parents knew was that some of her organs were enlarged, her blood tests were poor, she had bruises throughout her body with unknown origins, and her bones were becoming weaker. She feared being hugged by loved ones, for that one comforting hug might actually break her bones.

Stories like Vesna’s resonate throughout the world. People impacted by rare diseases tend to feel very alone in their struggle, yet their collective reality is anything but rare. Those affected are your neighbors, colleagues, friends. While they are certainly not defined by their diagnosis, their stories all too often go unseen, unheard, and tragically, untreated. After several years of struggling for medical access and support, Vesna was able to receive treatment through the Sanofi Rare Humanitarian Program, a global initiative that provides access to free treatments for patients who meet the program’s criteria who otherwise would not have access to such treatments.

“I wish others knew not to feel sorry for us,” shares Sandra, 58, a health and public justice advocate from New Jersey who is also working on finishing her PhD. Sandra was diagnosed with late-onset Pompe disease at the age of 53. For years, she had experienced symptoms but went undiagnosed.

“I am the same person I was before I was diagnosed, I just move a little slower,” Sandra shares.

She notes that there is often a misunderstanding that those who live with a rare disease are disadvantaged. While they may have health and lifestyle needs that differ from others, many people continue living productive lives while managing their conditions. “What people can do to better understand and connect with those living with rare disease is to talk to us, ask questions. We’d actually prefer that.”

People living with rare diseases are impassioned, resilient and remarkable. As they advocate day in and day out for their own healthcare journey, many have evolved as advocates for the health and wellness of the community at large. Vesna found her voice driving awareness of rare diseases within North Macedonia, where she created and runs a support organization dedicated to this cause.

Lindsey, 36, mom of two boys and caregiver to her six-year-old son living with a rare autoimmune blood disorder called immune thrombocytopenia (ITP), says her Illinois community has been a tremendous resource for helping to manage his health-related needs. Lindsey says she receives emotional support, childcare for their older son on short notice, and even provisions while she and her six-year-old are in the hospital for frequent visits.

Watching her son accept his diagnosis has been “bittersweet” for Lindsey. While she recognizes that he has had to grow up too fast, she also looks upon his amazing courage with pride. “He’s stronger than most people give him credit for—us included.”

The most important lesson that Lindsey and her family have learned in the three years since her son’s diagnosis has been to take things one day at a time and keep moving forward. Today, they are passionate advocates for raising awareness of ITP, sharing facts about the condition daily with others and even hosting an annual fundraising event every September. Lindsey’s son is also an activist in his own right, offering empathy and comfort to other children who share the experience of an ITP journey.

“Without advocating for awareness, so many of us would be left without a voice,” she says.

Greater awareness drives an important opportunity to shine a light on the untold stories and unknown experiences of people impacted by rare diseases. Rare Disease Day is a moment for people around the world to open their eyes, ears and hearts to meet the unmet.

To learn more about Rare Disease Day visit: SANOFI.COM

MAT-GLB-2200483 – v1.0 2/2022

This article was sponsored and written by Sanofi. Lindsey, Sandra and Vesna were compensated for their participation in the development of this article.