It’s described as the “worst disease you’ve never heard of.”
Just ask 26-year-old Nikki Howe. She’s a Sydneysider with a wicked sense of humour, an entertaining blog and who happens to be swaddled from head-to-toe in bandages because of a rare skin disorder she’s had since birth.
EB is so rare that it’s not just people in the public that don’t know about it, but most of the doctors and nurses at hospitals have never seen it either.
“It causes my skin to blister and tear with the very slightest touch,” says Ms. Howe of the disorder, Epidermolysis Bullosa, or EB.“Epidermolysis bullosa is a group of disorders in which skin blisters form after a minor injury. It is passed in families.”
They’re not the type of blisters that might form on the back of your heel if your shoe’s too small.
These blisters can cause large, open wounds that Ms Howe likens to severe burns. Even eating can cause blisters to form in her mouth. Then there’s the kidney failure and dialysis “thrown in for fun.”
“It’s a genetic condition where you are losing the protein that holds the layers of skin together,” Ms. Howe explained.
“Basically any slight friction would cause either a blister or just for the layer of skin to tear off altogether, and so then it’s left with wounds and they have to be bandaged every day.”
Ms. Howe is one of about 50 people across Australia who have the severe form of EB, and she spoke of her experience for World Rare Disease Day on Thursday.
An estimated two million Australians, 400,000 of whom are children, suffer from a rare disease, which is defined as an affliction that affects one in 10,000 people or fewer in Australia.
Not all of them are as severe as Ms Howe’s. Sometimes even the medical staff Ms. Howe sees have never encountered a case like hers.
“EB is so rare that it’s not just people in the public that don’t know about it, but most of the doctors and nurses at hospitals have never seen it either,” she said.
“It’s hard when you go to hospital because you’d think that would be the best place, but really you need to have your parents there because they’re the only ones that know how to treat it.”
She tries not to let it hold her back. But bandage-changing days are, quite literally, a huge pain. The first process is soaking off the bandages in the bath.
“Everyone knows what it’s like when you have a sore or a cut and you get water on it. It hurts right? Well now imagine that feeling on your entire body… not with a little cut or scratch, but open wounds that have no skin at all,” Ms. Howe writes on her blog.
She can’t use a towel to dry, because that would cause more blisters.
“I HATE bath days,” she writes.
Luckily, she has a well-developed sense of humour to cope with the challenges.
Ms. Howe’s New Year’s resolutions this year read, in no particular order: “Blog more. Read more books. STAY OUT OF HOSPITAL (unless for kidney transplant). Have kidney transplant? Survive a kidney transplant. Don’t reject kidney if said transplant takes place! Don’t die. Learn to draw!”
The Ricky Gervais fan likes to poke fun at herself.
“I think everyone is too politically correct these days and, I don’t know, just get over it,” she laughed.
Professor John Christodoulou, a rare disease expert from The Children’s Hospital at Westmead, said many people who had a rare disease, and their families, felt isolated or even abandoned.
“This is particularly the case in regional and rural Australia where the tyranny of distance often makes access to support, assistance and specialist treatment and tests even more difficult,” he said.
He said often it was simply impossible to label some of the diseases.
“Because some of these people are the only ones in the world with the disease, there is no support group, advocacy or large-scale fundraising even to support them, as is the case with other more high-profile conditions,” he said.
On her blog, Ms Howe writes that it’s not easy living with a rare disorder, but she just had to “keep pushing on.”
“I have good days and bad days, and I just have to make sure there are more good days than bad. Appreciate the little things in life and don’t take life for granted,” she wrote.
Read more at The Sydney Morning Herald. Written by Megan Levy.