Calls for $1m gel to be available in Oz to fight rare genetic disease
A young boy has become the first in Australia to receive a life changing treatment for a disease that makes his skin as fragile as butterfly wings, bringing hope for others who are suffering
READING LEVEL: ORANGE
A little boy suffering a rare disease that leaves the skin as delicate as butterfly wings has been given a new lease on life after becoming the first patient in Australia to receive groundbreaking million-dollar gene therapy*.
Melbourne boy Jacob Burmeister has epidermolysis bullosa, an incurable* disease that causes the skin to be so delicate that even the lightest touch can cause painful blisters and wounds that aren’t able to heal.
EB, a rare genetic* condition, affects about one in 20,000 children but there are several subtypes. Jacob has one of the most severe subtypes, recessive dystrophic EB.
Patients do not produce a crucial protein* that holds the layers of skin together, causing it to tear easily and never heal. The disease also affects internal organs, leading to the risk of serious complications. Most children born with recessive dystrophic EB only live into their 20s or 30s.
However, Jacob’s outlook has now significantly improved since he began using a topical* gel treatment called beremagene geperpavec, which he started in December last year.
Getting Jacob’s life-changing medication wasn’t easy. The first year of treatment cost about $1 million AUD, but — as the drug is only applied on open wounds and heals them — the amount needed decreases over time.
The gel was approved in 2023 in the US, followed by Europe and Japan last year, but remains legally and financially out of reach for Australians, with some considering a move overseas just to access it.
In the case of the Burmeisters, it took an 18-month effort by the Royal Children’s Hospital Melbourne to get a one-off approval for Jacob from Australian regulators — a highly complex process — and several charities and philanthropists* who covered the drug’s entire cost.
Jacob’s dad Nathan Burmeister said the gel has “completely changed” their life, healing an open wound that Jacob has lived with since birth and allowing him to walk to kindergarten using his mobility aid*.
“This drug will mean more than likely Jacob won’t live a shortened life,” he said.
“It could be that I get to spend more than 18 years with my son; in fact, it’s more than likely.
“That’s the biggest part of this story.”
RCH chief medical officer Associate Professor Tom Connell said the drug, which is applied weekly, was not a cure but a “life-altering and potentially lifesaving” therapy.
ACCESSING TREATMENT FOR EB
Jacob’s parents Nathan and Lauren Burmeister had never heard of recessive dystrophic EB until Jacob was born, but they quickly became experts when they were thrown into a world of 24/7 nursing care.
Ms Burmeister said Jacob was mostly tube fed* and must have his skin wrapped in special dressings to protect it at all times.
“He requires three people to do the dressings every day,” she said.
“It takes four hours.
“It’s obviously really tiring for him but he’s become very patient.”
Mr Burmeister said it had been awful to watch his child suffer while knowing that a treatment was available in America for his specific type of EB.
“(The drug) became the only thing I thought about,” he said.
“The more wounding Jacob gets, the harder his life is going forward because each wound turns into bad skin.”
He referred to Jacob’s foot, which has a bad wound and points down, making it difficult for him to walk. He said they considered selling anything valuable they had to buy the drug for Jacob.
The family jumped at the chance when the RCH hospital suggested applying via a special pathway for non-approved drugs to get Jacob the life-changing medication.
The Royal Children’s Hospital Foundation paid for a significant portion of the cost. They also received financial support from EB Research Partnership Australia, Cure EB Foundation and several individual philanthropists.
Mr Burmeister said he can recall the “exact moment” they learnt the gel had arrived.
“It was about a week before Christmas, and we remember looking at each other just thinking, ‘That’s just about the best Christmas present you can get’,” he said.
Prof Connell said the drug “basically delivers the gene the child is missing” and, when applied to an open wound, allows the child’s body to produce the protein needed to heal their skin.
“It’s actually mind-blowing how this works,” he said.
“For the carers that he has 24/7, to see some of the changes they’re describing is phenomenal.
“Anything that’s offering hope to a family, reducing pain and making life more bearable is a real breakthrough.”
Ms Burmeister said they see improvement in his mobility* “every week” and hope that, as he continues to get better, they will need less time to do his daily dressings.
About 100 kids and young adults across Australia have the same incurable form of epidermolysis bullosa as Jacob.
EB charities and clinicians hope his treatment will boost efforts to get beremagene geperpavec approved in Australia, and covered by the PBS* for recessive dystrophic EB.
Prof Connell said the hospital treated Jacob in the hopes that his example would help other kids get access.
“Every child who is eligible, no matter where they live, should have access to life-changing treatment like this,” he said.
POLL
GLOSSARY
- gene therapy: a medical treatment that alters a person’s DNA to treat or prevent disease
- incurable: can’t be cured
- genetic: caused by the genes a person inherits from their parents
- protein: complex molecules that act as the building blocks of cells. Proteins are made up of smaller units called amino acids
- topical: something you put directly onto the skin
- philanthropists: people who promote human welfare through charitable donations of time, money, skills or resources
- mobility aid: something that assists with movement, like a walking frame or a wheeled walker
- tube fed: when someone is fed liquid food through a tube that goes into their stomach
- mobility: the ability to move around and perform tasks easily
- PBS: the Pharmaceutical Benefits Scheme, a Government program where the Government covers the majority of the cost of listed medications for people with a Medicare card, making treatment more affordable
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QUICK QUIZ
1. How many children have epidermolysis bullosa?
2. How many people in Australia have the rare subtype recessive dystrophic EB?
3. How long does it take to do Jacob’s dressings each day?
4. How did the family secure access to the drug beremagene geperpavec for Jacob?
5. How much does beremagene geperpavec cost for the first year of treatment?
LISTEN TO THIS STORY
CLASSROOM ACTIVITIES
1. Help get approval
Research to find out who has the power to approve medicines and to have them added to the PBS in Australia.
Write a letter to these powers, explaining to them why you believe beremagene geperpavec should be available to those who would benefit from it. Use persuasive techniques in your letter to convince them.
Time: allow 40 minutes to complete this activity
Curriculum Links: English; Science; Civics and Citizenship
2. Extension
Name three emotions that reading this news article made you feel.
Write a sentence to elaborate on what part of the situation made you feel this way.
For example: Admiration – I felt admiration for Jacob’s parents when I read about the care they take with applying his dressings each day, and the efforts they have gone to to secure this new treatment for him.
Time: allow 15 minutes to complete this activity
Curriculum Links: English
VCOP ACTIVITY
What happens next?
Imagine the full story turns out to be in three parts and this article is only Part One. Think about what the rest of the story could be and write the next two parts that tell the rest of this story.
Time: allow 30 minutes to complete this activity
Curriculum Links: English, Critical and Creative Thinking