Rare Disease

Reporter: Mark Gibson

"It was first described in the early 1900s but since that time there's been very few cases described throughout the world."

Imagine being told you have an illness so rare that no-one else in the whole of Australia has it. Rare, debilitating and with no cure. That's what happened to Olivia Williams, a young Mum, suddenly struck down. And what's more it all seemed to start with a toothache.

Olivia says "Just had a normal toothache and then the next day I woke up and my cheek was out here and I knew it wasn't a normal pain."

It was October last year. Olivia's toothache was actually a severe abscess. A few weeks later, in November, muscle pains in her arms and legs, by December she had a rash.

"I got sunburnt the week before Christmas on my chest and my arms except it started getting real itchy and I've been sunburnt plenty of times, it got really itchy, I just kind of ignored it for a while because it was Christmas, there was nowhere to go, the new year it was really raised and very very red."

In January, she started taking steroids, which stopped the itching, but didn't clear the rash. "And then I came off it and two days later it was back with a vengeance, up in my eyes, everywhere, all over me." By February, Olivia was diagnosed with the incredibly rare "sclero-mix-adema." "And she says you have this and she says here's the only bit of information that there is, there were about 3 pages and we're like that's it? And she says yeah."

It's a chronic auto-immune disease. Basically, Olivia's immune system started attacking the other organs. "Almost every organ can be affected by the illness." Immunologist, Dr David Nolan. "It can cause muscle inflammation and weakness, it can cause lung function abnormalities as well as breathlessness and breathing problems and in more severe cases there have been reports that people have actually developed convulsions and gone into coma."

Doctor Nolan says there's no evidence that the tooth abscess led to the "sclero-mix-adema" there's no known cause... and very few cases to compare. "There is one large North American clinic that looks after 8 patients with this illness but that's probably the largest group of patients that's been assembled anywhere."Olivia says "I'm very weak, I can't do very much, I can't walk down stairs, I'm struggling to swallow and my life is just all about the hospital, I'm practically living in Royal Perth."

Every four weeks, the 31 year old spends three days at Royal Perth hospital, where she's injected with human antibodies. "I finish one lot, like just say I finish on Friday, I'm already thinking about my next lot, I don't think woohoo that's it for a month, I have three weeks off, I'm already dreading my next lot and I know it's gonna make me sick."

The antibodies that help Olivia come from plasma donations."By donating plasma you help to save the lives of many Australians every day." Rod Astbury from the Red Cross."Plasma is what we call the golden gift; it's the liquid part of blood that carries the proteins that are so helpful for antibodies for treatment of patients like Olivia."Kay Mills has been donating plasma for more than 40 years, but it takes around a hundred separate donations, just to give Olivia enough antibodies for one month's treatment.

Doctor Nolan says "Since she started on this treatment she has certainly had some improvement, the disease is not to the point where we can stop giving infusions but certainly she's making progress.""And these are all Mummy's stories to you aren't they, telling you what to do when you're a big girl if Mummy's not around. Yes." Back home, Olivia has made a special book, her legacy for 6 year old Molly. "When you grow up if I'm not around you'll have to deal with bullies and girly issues."Olivia says "There's no-one to compare me to and I have no-one to talk to like we know people who have breast cancer, they go to support groups, they talk to people, I have nobody." But Olivia believes there must be someone, somewhere, silently suffering through the same illness.

"I don't know why I'm convinced but there has to be somebody out there, even if I found a doctor who has treated it I would talk to him and just, I don't know why my big thing is I need to see somebody but I want to talk to somebody who has it." In the meantime, its months of treatment and mountains of hope." I just, I want to be fixed and I need support."