It’s known as ‘the worst disease you have not heard of’, and it affects between 3,000 to 5,000 Canadians. Epidermolysis Bullosa, EB for short, is a rare genetic condition that causes blistering on the skin and organs. It’s known to be extremely painful, causing chronic wounds and dysfunction of limbs, appendages and internal organs.
“EB has been a part of my life since birth, living with it has become second nature to me,” said Deanna Molinaro.
But for many, like the 24-year old Molinaro who have been dealing with the condition since childhood, getting the same level of care in adulthood is a challenge
“It felt like I just got shift off and I’m on my own, and there’s no doctors to cover different aspects,” she tells CityNews. ”
The head of the dermatology department at SickKids hospital says the lack of services available to adult patients is a problem. Oftentimes the adult patients will have less access to the therapies and services available to youth.
“It creates a huge disconnect for patients that we’re keeping alive long enough that they need to transition to adult care,” Dr.Elena Pope tells CityNews.
Molinaro says she’s already been notified that funding for the wound dressing she uses daily could be cut. Many EB patients use the product to care for and manage the blisters, and it’s a necessity for those who are living with the disease.
“It takes four hours to basically dress and bathe,” she explains. “My body is basically covered up to 80 percent in open wounds, and I need the dressings to keep them clean and covered, so I’m available to go out and wear clothes, and not be prone to infections.”
While services for adults are scarce, SickKids has had an established Epidermolysis Bullosa Clinic since 2004. It’s the only EB clinic in Ontario, and it serves 122 patients throughout the province. It’s been praised by families for providing essential care for the patients who require more than one type of medical expert.
“The kids can go there, they see all the different doctors in one day,” said Dave Molinaro, Deanna’s father. “It’s much easier on the families, the patients, and the doctors get to learn a little bit more.”
The Molinaros attended a charity concert Friday night inside the MOD Club, a fundraiser looking to raise at least $25,000 for the clinic. The Rock and Roll VS Epidermolysis Bullosa is in its third year, and is raising awareness on how EB, an incurable disease, impacts the lives of patients.
“Today there isn’t a magic bullet or something that is going to help everybody, but definitely there is enough momentum,” said Dr. Pope.
In recent years, the EB community has gained the support of Eddie Vedder. The Pearl Jam front man has advocated for more research to find a cure for the disease, even bringing it up on a stage at the band’s recent Toronto show.
Molinaro, who is a talented artist and third year student at Sheridan College, says more people, including those working in the government and in the health field, need to band together to learn more about EB.
“For people to be aware and to want to help and change things from the way they are,” she said.
QUICK FACTS ABOUT EPIDERMOLYSIS BULLOSA (via SickKids)
- There is currently no cure for EB
- EB Awareness Week starts on Oct. 25th each year
- There are three major types of EB: Epidermolysis Bullosa Simplex, Dystrophic Epidermolysis Bullosa and Junctional Epidermolysis Bullosa
- An estimated 500,000 people worldwide are living with EB and between 3,000 to 5,000 Canadians are affected by it
- The most common symptom of EB is extremely fragile skin that blisters and tears from minor friction or trauma