Parents of two-year-old with ‘butterfly skin’ disease leading 1,000km walk to raise funds for vital research

It is every parent’s worst nightmare to see their child in pain. But ever since their son was born, Alex Hersham and Natasha Gertler have had to cope with looking after a life as fragile as butterfly’s wings.

The birth of a first child is supposed to be the happiest day of a young couple’s life. But when Abe, now two, came into the world, “it looked like a bomb had gone off in front of him,” his father, Alex, told the JC.

About a third of the newborn baby’s body had large, open wounds, including on his left leg, which had no skin from the thigh down. His parents worried he would never be able to walk.

Abe was born with severe generalised recessive dystrophic epidermolysis bullosa (EB), a rare genetic condition that causes the skin to be excessively fragile and painfully blister at even the slightest friction.

There is no cure for the disease, which affects at least 5,000 people in the UK and 500,000 worldwide.

Ten to 15 per cent of Abe's body is always covered in wounds. (Photo courtesy of Alex Hersham)[Missing Credit]

Life for those living with the condition, and for those who love and care for them, is a constant challenge. At all times, 10 to 15 per cent of Abe’s body is covered in wounds. His body is therefore encased in protective bandages from the neck down. Every morning, his parents spend two hours changing his wound-dressings, popping blisters and giving him a bath, a process which can be “really painful and really stressful”.

Abe can’t even go down a slide because his skin would tear from his backside. He can’t eat because it would dash the skin in his mouth, so he is fed through a G-tube that goes directly to his stomach.

While mild cases of EB aren’t fatal, individuals with a severe form of the disease have a life-expectancy that ranges from infancy to 30 years old.

But Alex and Natasha, who attend St John’s Wood Synagogue, are working hard against the clock to change the odds for Abe through the power of science.

Right now, the future for someone living with the disease is bleak as they lose the ability to use their hands and become wheelchair bound. After that, individuals have an increased risk of developing a malignant type of skin cancer – squamous cell carcinoma – because of the blistering, wounding and scarring.

That is why, on June 14, the couple have organised a 1,000km walk across the length of Britain to raise £500,000 for CureEB, a charity on a mission to fund research into life-changing treatments for the disease and ultimately find a cure.

Alex and Natasha are aiming to raise £500,000 for CureEB by walking 1,000 kilometres in 24 hours. (Photo courtesy of Alex Hersham)[Missing Credit]

Even though they had done genetic screening for other recessive genetic conditions before Abe’s birth, his parents had no idea that they were both carriers of the disease, and they have never had it in their family.

Like most people with EB, which can be caused if either one or both parents are carriers, Abe inherited a mutation in the gene COL7A1 – responsible for producing a protein called Collagen VII, which plays a crucial role in binding the dermis and the epidermis, the top and middle layers of skin, together. Without Collagen VII, just light friction can cause the top layer of the skin to come off, resulting in the equivalent of a second-degree burn.

The protein isn’t just crucial for healthy skin, it plays a pivotal role in giving structural support to the eyes, mouth, oesophagus and rectum.

But Alex and Natasha are determined to make Abe’s life – and the life of thousands of other sufferers around the world – as normal and as fulfilling as possible.

As part of the charity walk, 150 people, including family, friends and kind strangers will split into 35 teams and, between them, cover the full length of Britain – from John o’ Groats in Scotland to Land’s End in western Cornwall, all in 24 hours.

Last year, the couple raised around £650,000 for CureEB by walking 100km in 24 hours. The money went into supporting several early-stage companies to get them into a position where they could run clinical trials for life-changing treatments. This year, the plan is the same – to support nascent, innovative research projects that might change the lives of those suffering from the disorder.

“My aim has always been that by the time Abe is around bar mitzvah age that he has a near-normal life, and I think that’s really possible,” Alex told the JC.

Ever since Abe was born, life has never been the same for the couple. Abe went immediately to the intensive care unit, and they then spent a month at Great Ormond Street dealing with the “shock and trauma” of learning about the disease, and the hours of specialist care they would have to master.

Abe was born with generalised recessive dystrophic epidermolysis bullosa, a genetic disease that impacts 5,000 people in the UK. (Photo courtesy of Alex Hersham)[Missing Credit]

Every day, there is a chance that their son might stumble over and fall. For any other two-year-old, there might be some tears, but for Abe, a simple fall could create a huge wound.

“That’s unbelievably stressful and is like a mini trauma for us,” says Alex, describing what it is like discovering a new incision on Abe. It is a constant battle between protecting their son – especially in preventing damage to his eyes, which could cause blindness –  and making sure he is stimulated because he is cognitively unscathed.

On the flipside of the challenges of Abe’s 24-hour care is the gift of focusing totally on the here and now, says Alex, because the couple are invested in treasuring every precious moment they have with him.

“We don’t think: ‘Is he going to go to a great university?’ or ‘What career is he going to have?’ We hope that he’ll be able to live a full and normal life, but currently, the life expectancy doesn’t allow for that. That means we don’t stress over the long-term things. We focus on: ‘Was today a good day for him?’ And in a way, that’s really beautiful.”

After Abe was born, Alex did a trip to Europe and America to meet all the laboratories and companies making waves in EB research. Since then, the couple have begun building their own biotech businesses that focus on finding treatments for their son’s condition, but in the future, they hope to find cures for those with other genetic diseases too.

One business Alex has founded since the birth of his son is Nonsense Tx, which works on developing small-molecule therapies to boost Collagen VII production for dystrophic EB patients. Early lab results using primary patient cells – tested with a leading expert in nonsense mutations in EB – have shown promising results. Nonsense mutations cause about 10 to 12 per cent of cases across more than 10,000 rare diseases – including EB – impacting roughly 40 million people.

So far, two drugs exist for Abe’s disease. While the drugs can’t cure the condition, “they take it from really a horrific disease to a very, very, very bad disease, but still better than it was”. 

“It’s a big step forward,” he says, but Alex is optimistic that with the right funding and research, more progress can be seen. “I think over the next five to ten years, we can take ideas that already exist today in research labs, and we can translate them into the clinic and have a dramatic impact.”

Even though Abe is different to most other toddlers his age, he is still normal in a lot of ways. He loves copying his mum and dad when they do home exercises, enjoys playing with toy cars and has a lot of fun in the park. “He’s talking a lot, and you can have quite incredible conversations with him given how young he is,” says Alex proudly. And in September, he’ll be starting a Jewish primary school.

“He’s a normal two-year-old who is really enjoying life in spite of this horrific disease and the pain that he goes through. It’s inspiring. If I were to picture myself with this disease, I don’t know how I would handle it. To see how he handles it is amazing.”

To donate to Team Abe’s fundraiser to help find a cure for EB, go to: justgiving.com/page/team-abe or click here