Jacob is an energetic and adorable four-year-old boy. Like many children his age, he loves toy cars, dancing, and playing with his big sister, Hannah. But one thing sets him apart from other children his age: his parents have to spend hours every day wrapping his entire body in bandages.  

Jacob was born with no skin on his left leg from the knee down – and so, it wasn’t long before he was transferred to The Royal Children’s Hospital (RCH).  

“We knew something was wrong immediately. He was in pain. He didn’t have any skin on his left leg, and he had blisters in his mouth,” his mother, Lauren, remembered.

Within just 24 hours, clinicians at the RCH suspected that Jacob had an extremely rare and devastating condition called Recessive Dystrophic Epidermolysis Bullosa (RDEB) and sent the precious newborn for urgent genetic testing. A week later, this heartbreaking diagnosis was confirmed.  

Those with RDEB are often called “butterfly children” because their skin is as fragile and delicate as a butterfly’s wing. Even the slightest touch or friction can cause their skin to blister, tear, and shear away – without the ability to heal or repair. 

In more severe cases, like Jacob’s, the disease tears at the stomach lining and other internal organs. This means everyday tasks that we often take for granted like walking, sleeping, and even giving your loved one a hug, can lead to severe pain – and worst of all, death. 

“It was challenging to take in. We wondered what that meant for the life we had imagined for our family,” said Lauren. 

Along with the constant pain of his wounds, Jacob has to endure four hours of dressing changes every single day. It’s a grueling, heartbreaking, and deeply painful process for Jacob and his family. But it offers him the freedom and protection he needs.  

“These bandages give him the ability to go outside and do things, and some resistance to damage,” shared Nathan, Jacob’s father. “But even then, he gets blisters and hurts himself, so it’s a daily battle.”

“One of the harder things is seeing your toddler want to stand, and seeing it hurt him,” he continued. 

Right now, children with severe RDEB are expected to live between the ages of 18 to 30 – and for little Jacob, who presents with one of the worst cases of the condition in Australia, this life expectancy serves as cruel confronting reality.  

But his family is holding onto hope. 

“Jacob’s life expectancy at the moment is something I don’t accept,” said Nathan. “And future treatments will help make sure that’s not a reality.” 

Since he was born, Nathan and Lauren have looked at medical discoveries as a lifeline for Jacob’s future, wellbeing, and independence because they know that life-saving breakthroughs are happening every single day.  

In an Australian-first, Jacob recently received an advanced therapy gel treatment at the RCH with the potential to transform the lives of children living with RDEB across the country. Thanks to this treatment, Jacob’s fragile skin has become more robust, his wounds are healing faster, and his future is bright. 

But there is an urgent need to open up access to other groundbreaking advanced therapies for even more children battling the cruel and sobering reality of rare diseases. More than 500,000 children are living with a rare disease and one in three of these children will not reach their fifth birthday.  

“It isn’t right that there’s a treatment for something, but people don’t have access, and their kids have to suffer,” Lauren said. 

Cutting-edge, revolutionary treatment options can help transform the lives of children battling rare and devastating illnesses. It can also give them a future that once seemed completely out of reach.  

Your tax-deductible donation can help support vital research to discover and open up access to new, transformative treatments. Importantly, it can bring hope to families who once had none.  

Please donate to help fund the breakthrough treatments children like Jacob urgently need.