Understanding Epidermolysis Bullosa: A Journey of Pain and Perseverance
Cady (on the left) and Toni (on the right)
About Epidermolysis Bullosa (EB)
Epidermolysis Bullosa (EB) is a rare genetic disorder that causes the skin to be extremely fragile and prone to blistering and tearing from even the slightest friction or trauma. Often referred to as “butterfly skin” disease, EB affects individuals in profound ways, impacting their daily lives and overall well-being.
EB is a group of inherited connective tissue disorders that cause blisters in the skin and mucosal membranes. The severity of EB can range from mild to life-threatening, depending on the specific type and genetic mutation involved. There are four main types of EB: EB Simplex (EBS), Junctional EB (JEB), Dystrophic EB (DEB), and Kindler Syndrome. Each type varies in severity and symptoms, but all share the common characteristic of fragile skin that blisters easily.
The symptoms of EB can vary widely but generally include fragile skin that blisters easily, thick or unformed nails, blisters inside the mouth and throat, scalp blistering and hair loss, thin-looking skin, tiny pimple-like bumps, dental problems, difficulty swallowing, and itchy, painful skin. These symptoms can make everyday activities incredibly challenging and painful for those living with EB.
Individuals with EB face numerous challenges daily. The constant need for medical care, including painful dressing changes to prevent infections, is a significant burden. The skin's fragility means that even simple activities like putting on shoes or holding objects can result in painful blisters and wounds. The psychological and emotional toll is immense, as is the financial burden of ongoing treatment.
In South Africa, accessing proper medical treatment is another hurdle. Most local medical dressings are inadequate, often sticking to wounds and causing further damage. The gold-standard dressings, imported from Sweden, are prohibitively expensive, leaving many EB patients without the care they desperately need.
Toni and Cady’s Story
Toni Roberts lives with EB, and her life is dictated by constant medical care. Every day, she undergoes painful dressing changes to prevent infections, as her skin is prone to wounds that take an extremely long time to heal. Growing up, Toni faced numerous challenges that most people take for granted. Simple tasks like wearing new shoes required careful preparation to prevent painful blisters. Even fun outings to theme parks came with risks, as her sister Cady would test the rides first to ensure they weren’t too rough for Toni.
Beyond the physical toll, EB affects multiple aspects of Toni’s life. The disease impacts not only her skin but also her heart, lungs, and digestive system, requiring ongoing treatment from a range of specialists, including dermatologists, cardiologists, pulmonologists, and pain management experts. Tragically, many infants born with EB in South Africa do not survive beyond three months due to infections and inadequate care.
Cady after running the Two Oceans Marathon in Cape Town
Toni’s condition profoundly impacted her older sister, Cady Ward. Witnessing Toni’s daily struggles and the immense challenges she faced inspired Cady to become an advocate for EB and other rare diseases. This year, Cady decided to take on an extraordinary challenge—running the Two Oceans Marathon in Cape Town. Known as “the world’s most beautiful race,” this prestigious ultra-marathon attracts thousands of runners who traverse stunning coastal routes along the Atlantic and Indian Oceans.
For Cady, the race represented far more than just breathtaking views; it was a platform to raise awareness for rare diseases and to prove that resilience knows no limits. Inspired by her sister’s strength and perseverance, Cady is determined to help raise awareness for Rare Diseases South Africa, shining a light on the struggles faced by those living with EB and other rare conditions.
For Cady, this journey was more than simply finishing a race. It was about raising awareness, advocating for better healthcare solutions, and showing the world that rare disease warriors are stronger than their conditions.
The story of Toni and Cady is a poignant reminder of the strength and resilience of individuals living with EB and their families. It highlights the importance of advocacy and the impact that one person's dedication can have on raising awareness and driving change. Toni’s journey from a loving sister to a passionate advocate serves as an inspiration to us all, reminding us of the power of love, determination, and the human spirit.
On race day, every step Cady took, whether emotionally or physically, was a victory—not just for her, but for the entire rare disease community. Cady and Toni chose to be part of the 1% that are rare, what about you?
