Butterfly Boys

"The patient was in danger of [losing his] life. The prognosis was very poor, but he survived [the whole skin graft procedure]."
"He went back to normal life, including school and sports. His epidermis is stable; robust. It doesn't blister at all."
Dr. Michele de Luca, University of Modena, Italy

Scientists used gene therapy to reconstruct a fully functional epidermis for a 7-year-old boy.

Credit: Nature News & Views

It's hard to imagine that the largest organ in the human body, the one that covers muscle, bone, sinew, tissue, internal organs, all that keeps a human body intact and in good order, failing so catastrophically that a child's life is threatened with impending, early death. And before that eternal release, suffers excruciating pain of a physical nature, while facing the mental torment that he is radically different from other children, so much so that normal experiences of any child growing up is denied him. The anguish of the parents is unimaginable.

And then, where in an earlier era, that child would expire from morbid complications of that dread disease called epidermolysis bullosa, a medical miracle occurs spelling that child's salvation. Which is just what happened with a seven-year-old child, a Syrian boy born in Syria but who arrived with his parents in Germany where his condition dire enough, became even more pronounced. His junctional epidermolysis bullosa, the cause of his blistering skin which the lightest touch would tear became even worse.

After receiving his new skin, the boy plays on the grounds of the hospital in Bochum, Germany.

Credit: RUB

A medical team in Italy miraculously had a cure for this boy. In a first, 80 percent of the boy's entire epidermis was replaced through the course of three operations. Before that, doctors in Germany had taken skin grafts from his father but none had succeeded in easing his condition. Such children, because of their fragility are called 'butterfly' children. The young boy had little option but to live at the burn unit at Bochum's Children Hospital in the Ruhr district of Germany since much of his skin was either missing or damaged.

And that's when in desperation, German doctors reached out to other doctors in other countries to determine whether any had potential helpful therapies. They discovered the presence of a group of Italian scientists busy experimenting with skin cell regeneration. The Italian team led by Dr. Michele de Luca took a sample of skin, four square centimetres in size, and from it extracted stem cells. The next step was to genetically engineer the cells to a state of health.

From that point, the healthy tissue was grown into large skin grafts, to replace an astonishing 80 percent of the boy's skin. Now, his new skin no longer blisters. Finally, the boy is able to play soccer for the very first time in his life, becoming the very picture of a normal schoolboy. And because of the amazing success of this new therapeutic procedure, a larger arena of hope is held out for victims of life-threatening burns.

It's been a long last few days. Last few weeks. Last few months. But today we have good news.
Jonathan is officially growing my cells! The donor study tests show he has 100% my cells, which means the transplant and engraftment is working! That said, however, his cells can't all be mine - he needs to grow some of his own back so the two can become a happy blend. Photo: Tina Boileau

Another, older teen, who this summer had undergone a $1-million intervention therapy with various surgeries after fifteen years spent attempting to heal or even marginally ameliorate his incurable condition of epidermolysis bullosa, was repeatedly re-admitted to University of Minnesota Masonic Children’s Hospital where two exhausting and exhaustive stem-cell grafts [derived from his mother] had taken place; one that saw him coping with discouraging results when the first one failed and some of his internal organs began breaking down, requiring other surgeries.

Jonathan Pitre of Ottawa, now 17, didn't experience quite the uplifting miracle that the 7-year-old from Germany did. One body function after another seemed to break down, though he never lost hope he would prevail. But finally, the second stem cell graft, yet another experimental therapy, appears to be working, and the young man is preparing to return home from Minnesota with his mother, to his home in Canada.

Jonathan Pitre leaving hospital   Photo: Tina Boileau