Wicked sense of humour has pain of rare disease under wraps

IT'S described as the ''worst disease you've never heard of''.

Just ask 26-year-old Nikki Howe, a Sydneysider with a wicked sense of humour, an entertaining blog and whose body is swaddled from head to toe in bandages because of a rare skin disorder.

Epidermolysis bullosa, or EB, causes her skin to blister and tear with the very slightest touch.

Ms Howe likens the blisters to the open wounds left by 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 said.

''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 2 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 in Australia.

Luckily, Ms Howe has a well-developed sense of humour to help cope with the challenges. Her 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.

A rare disease expert from The Children's Hospital at Westmead, John Christodoulou, 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.

Professor Christodoulou 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 fund-raising even to support them, as is the case with other more high-profile conditions,'' he said.

On her blog, Ms Howe wrote 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.''

This story Wicked sense of humour has pain of rare disease under wraps first appeared on The Sydney Morning Herald.