WHEN first-time mum Simone Baird was told her newborn baby Eliza had a rare skin disease that meant her body would be covered in painful blisters, peel at the slightest touch and cause her a lifetime of pain, she was absolutely devastated.

“The whole feeling that rushed through my body was overwhelming, I was almost hyperventilating,” Mrs Baird told news.com.au. “We were first-time parents and had no idea what we were doing, let alone caring for a child with high medical needs.

“I knew our whole life was about to change, and it did.”

When she was born, Eliza screamed for the first five hours of her life and was transferred immediately to intensive care at another hospital with her dad, while Mrs Baird was kept in the maternity ward.

“The first night, I had no baby and no husband and I was just left wondering what the hell had just happened,” she said.

After a series of tests and an agonising two-week wait for the results, it emerged that Eliza had epidermolysis bullosa (EB) — a rare, excruciatingly painful and little-known genetic skin condition described as “the worst disease you’ve never heard of” — that affects around 1000 Australians and more than 500,000 people worldwide.

It affects three layers of skin and internal mucosal linings and has been likened to living with third-degree burns. As a result of missing the collagen or “glue” that sticks layers of the skin together, children with EB — known as “butterfly children” as their skin is so fragile — can blister from the slightest touch.

Friction caused by clothes and nappies can put them at risk of blistering or infection. While it can sometimes be detected at birth, milder cases of EB will generally be discovered as a child becomes more physically active and starts crawling, walking or running.

Currently, no cure exists and at its most severe, life is often cut short due to skin cancers or secondary complications associated with the disease.

Sadly, it took Eliza’s life. She died of renal failure, a complication brought on by the disease, on December 12, 2017 aged 17 — six weeks shy of her 18th birthday.

“My husband and I are gene carriers of this disease but we had no idea,” Mrs Baird told news.com.au. “Eliza was our first child. Out of all our family, she was the only person born with EB.

“It was a complete surprise. We were devastated. She had the worst type of EB you could possibly get. It was like she had burns all over her body.

“She had blisters in her throat, her oesophagus, she failed to thrive and was in an enormous amount of pain. As a baby, she was very unsettled, did not sleep because of the pain, did not grow normally.

“It was difficult to feed her ... her growing was affected by that.

“The first two years were extremely difficult. Her fine motor skills were always slower in developing which was limiting what she could do.

“It was very distressing and really challenging — you’re living on little sleep.

“It’s like you’re living in a war zone. You do not stop to reflect, you have got to keep fighting otherwise you will lose the battle.”

Eliza had to be given bleach and salt baths which would take between two to three hours every second day and would be bandaged daily.

She was in constant pain, had blisters and sores on large parts of her body particularly her legs, in her throat, her oesophagus, had to be fed through a tube and was on 24 different types of medication.

Over time, she gained weight and her face became puffy, her urine had blood in it.

Eliza was regularly on different types of antibiotics and often needed scar tissue removed from her throat — at one point she couldn’t even swallow her own saliva.

Throughout her life, Eliza was regularly hospitalised and as a child needed a throat dilation procedure every eight weeks and a “PICC line” (peripherally inserted central catheter) in her arm allowing her to receive medication.

“We used to call it her ‘tune up’, her service,” said Mrs Baird, who has another daughter Ellie, 13, who does not have EB. As a teenager, Eliza needed regular blood transfusions and iron infusion as she became anaemic.

“We were always in touch with her doctors at the Royal Children’s Hospital (in Melbourne), who were amazing,” Mrs Baird said.

As a child Eliza would regularly have corneal abrasions as the tissue was so weak and fragile which would take three to four days to heal. “One year when she was in grade two she had corneal abrasions every second week for six months.

“That year was extremely difficult for her and for us.”

Last year, just six weeks shy of her 18th birthday, the disease took Eliza’s life.

“The last four months of her life were just unbelievable. You’re running on adrenaline the whole time,” Mrs Baird told news.com.au.

“On August 17 last year she was admitted to hospital with what we thought was a chest infection. She had been unwell for a week before that.

“They treated the chest infection with antibiotics but her breathing was getting worse and worse — it started to slow down. She was taking seven breaths per minute and you are supposed to take about 20. She was extremely unwell and ended up in the ICU. It turned out she had renal failure and her kidneys were shutting down.

“It was the hardest five days of my life, and although I knew this would eventually happen, I still can’t believe it did.”

“Eliza battled with EB all of her life and never experienced a pain-free day,” Mrs Baird said.

“Her illness was severe, complicated, limited her mobility and she required constant care but despite all of this she did not allow EB to define her.

“Eliza suffered unbearable trauma for so long and it ended up taking her — the most courageous, determined, never-give-up kid I’ve ever met.”

Since Eliza passed away, Mrs Baird said life had taken “a huge change”.

“You go from being a family of five (with a live-in carer) to a family of three,” she said.

“EB, it’s such an awful disease, it really is.

“It’s sad for everyone involved, it’s hard work and it doesn’t just impact on the child and the carers, it also impacts on the rest of the family and extended family unit and often pushes siblings aside.

“It’s been so hard but she was our daughter — you have to keep going.”

Not-for-profit organisation DEBRA supports EB families across Australia and relies entirely on donations as it does not receive any government funding. It provides practical help, support and counselling for family members.

Mrs Baird, family support co-ordinator at DEBRA, now helps other families who have children with EB. This includes organising in-home nursing support who help new parents with dressings, providing access to medical aids and equipment, bathroom and home modifications — even organising the installation of airconditioning units.

“These children are wrapped in bandages 24-hours a day, They get extremely hot,” Mrs Baird told news.com.au. “We help to keep them cool. We also set up a psychology program to help families, allowing them to have access to psychology support when they need it.

“Raising a child with EB is a mammoth task. It’s relentless, unforgiving and never lets up.

“Your life transitions into survival mode and you quickly learn to take one day at a time. Each day brings new challenges and often more hurdles to jump.”

For Lara Scott, of Glenmore Park, NSW, whose baby Lylah was born with no skin on her feet and was screaming in pain, daily life is a huge challenge.

Anything from an elasticated waistband to the fabric of a car seat could rub off large chunks of Lylah’s delicate skin, she told News Corp last year.

“As a parent you do not want to watch your child going though pain,” Mrs Scott said. “Considering everything she has gone through, she has a smile on her face every day.

“Most of the days, she copes better than I do. Because she has had it since birth, I do not think she knows much different.”

Currently there is no cure for EB but clinical trials are being conducted worldwide.

Professor Dedee Murrell, of Premier Specialists at Kogarah in Sydney’s south, is conducting a series of four clinical trials — the first of their kind in Australia — and hopes to reduce blistering, pain and improve the lives of EB patients.

One of the larger trials, known as the DELIVERS Study, 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.

Throughout the month of May, DEBRA is running its fundraiser PB4EB — Personal Best for Epidermolysis Bullosa to provide ongoing support services for children and adults with EB and fund research.

Individuals, teams and schools are encourage to sign up and get sponsored for anything whether it is running, jumping, reading one book a week or shedding a few kilos.

“It’s all about doing your personal best for EB,” Mrs Baird said.

Matt Bevilacqua, Nutri-Grain Ironman Champion and ambassador for DEBRA grew up with EB Simplex — a mild form of the disease — which also affects one of his two brothers and a number of cousins who have more severe forms.

“It’s genetic and has run in my family since we can remember, on my mum’s side,” Matt told news.com.au. “As a child, it was a lot worse. It affected my playing sports when I was younger.

“After playing football, my feet were raw. The whole bottom of my feet would be blistered up. I would pop the blisters, making sure they didn’t get infected. It was mild compared to kids with other forms (of EB).”

Luckily, the condition did not prevent him from becoming an Ironman as training was on the beach and in the surf.

“I didn’t have to wear shoes,” Matt said. “So it wasn’t too much of a problem. I could run a lot further.”

Now he works as an ambassador for DEBRA, helping others with the disease.

“As a sufferer of EB Simplex, I wholeheartedly feel like more needs to be done to support the families of EB sufferers,” Matt said.

“I feel privileged to be an ambassador for DEBRA as it allows me to help raise the profile of the disease, raise money for research and to meet children and families who courageously overcome the daily challenges of EB.

“In the month of May, I will definitely be thinking of ways I can achieve a ‘personal best’ — watch this space!” he added.