‘Worst disease you’ve never heard of’
SIDDIQAH and Mohammed play together just like any other young siblings, they throw their fluffy toys in the air, laugh gleefully and run around.
But if they bump into something, instead of getting an "owie", large chunks of skin drop off and a hole appears in their arm. Simply wearing clothes rubs against their fragile skin, causing painful blistering and deep lesions.
While they are full of joy and innocence, these playful five and three-year-olds are "butterfly children", so-called because their skin is as delicate as the wings of a butterfly.
They are smaller than other children their age, are covered in deep and painful-looking wounds and numerous dressings but are still as cheeky and adorable as any other preschoolers.
Siddiqah and her little brother Mohammed suffer from a rare and little-known genetic skin condition called epidermolysis bullosa, described by DEBRA Australia, a not-for-profit group set-up to help people with EB, as "the worst disease you've never heard of".
As a result of missing the collagen or "glue" that sticks layers of the skin together, they can blister from the slightest touch. It is comparable to living with third degree burns and sufferers are bandaged daily to protect their wounds and reduce chances of an infection.
"It's very difficult - it's a learning process" mum Ida said. "EB has a lot of surprises, everyday is a lot of surprises, you learn everyday."
Ida, husband Aiman and their children, have temporarily relocated from Malaysia to Sydney to take part in one of four clinical trials - the first of their kind in Australia - conducted by Professor Dedee Murrell at Premier Specialists, Kogarah.
The highly experienced dermatologist, who has been involved with the treatment of EB for most of her career, hopes to produce a clinical treatment that will reduce blistering, pain and improve the lives of EB patients.
"It's not a cure, it's an ongoing treatment," Professor Murrell told news.com.au.
"People think they are looking for a cure but it's unrealistic. We are looking for an effective treatment."
The trials uses two creams over three months each - one is a placebo and the other contains an active ingredient that Premier Specialists hope will be approved by the Federal Drug Administration and be made available to EB patients.
Professor Morrell said the active ingredients in one cream - silrolimus, which is used to treat other skin disorders - saw clusters of lesions reduced from 52 per cent to 20 per cent over three months. The healing properties of oleogel - derived from birch bark - and allantoin were also being examined, she added.
Three of the trials are conducted at Premier Specialists' own expense with some funding from DEBRA which partly-covered the cost of the drug for eight patients, and a fourth being backed by US company Castle Creek Pharmaceuticals.
This larger trial, known as the DELIVERS Study, is being run at sites across the world and is aimed at developing a cream with the active ingredient diacerein, a component of rhubarb root. It is hoped this "potentially disease-modifying therapy" will help treat epidermolysis bullosa simplex (EBS) - the most common form of the disease, strengthen epidermal tissue and support healing.
For babies born with EB, childbirth was excruciating and traumatic - the friction can rub, causing them to appear as if they have been born without skin.
The disease affects around 1000 people in Australia but many more around the world.
Professor Murrell said many of the patients recruited were children, although the trials were also open to adults with EB, while there were strict safety guidelines.
"The younger we can intervene with something, the better," she said. "We are trying to get it out to a population of people, that this is finally something that will be helpful for them.
The clinical trials includes blood tests to ensure patient safety, recording the size of blister clusters on the body and monitoring the fitness of participants - using a Fitbit and a questionnaire on their ability to exercise - to provide objective comparisons.
"The FDA does not allow a child to be in a study, without a safety component," Professor Murrell said. "Getting a medicine approved by the authority requires two things - does it work and does it cause no harm?"
While they were a vital way to develop an effective treatment, Professor Murrell said finding patients willing to take part was proving difficult, often due to the cost of travelling interstate to Sydney to take part in trials.
"They think they are a lab rat in a cage," Professor Murrell said. "This is certainly not the case. We would like to get more patients for the study."
One participant found the cream worked so well, she wanted to get hold of it before finishing the trial. But this was not allowed as the drug still needed to be approved by the FDA - pending successful trial results, Professor Murrell said.
"The sooner we can finish the study, the sooner we can give her what she wants," she said.
Patients who were taking part in the trial, had a "better quality of life", she told news.com.au. "If it was not, they wouldn't stay in the trial because they would know it was worthless," Professor Murrell added.
Some of the same trials are being conducted at the Royal Melbourne Hospital, the Royal Children's Hospital Melbourne and around the world.
In 2015, a seven-year-old boy born with EB underwent a series of revolutionary operations at the Children's Hospital at Ruhr University in Germany where surgeons managed to attach genetically modified skin grafts to 80 per cent of his body.
Professor Murrell said it costed up to $6000 a month to pay for the dressings required for a child with EB but the Australian Government now provided a grant that covered this expense.
However, this was not the case in Malaysia and other countries including the US.
"We minimise the dressing process," Ida said. "We cover the [open] wounds but not the lesions."
Since taking part in the trials, she said the condition of both children had improved.
"When they came in, there were more lesions before," Ida said. "They are able to be physical [now], it's good that they are getting more physical with the cream, it helps them."
She said she knew other families affected by EB in Malaysia but they were reluctant to take part in the trial. "If you don't participate in the trial, you will never know the outcome," Ida said. "It's better to do something about it, than nothing.
"It's [also] important to talk about it. You never know who will listen."
If you have EB and would like to take part in the trial, contact Premier Specialists at Kogarah on 9598 5800, email@example.com or visit dermatologytrialsaustralia.org.au. To support DEBRA visit debra.org.au.