Our skin is our protective layer from outside forces, it’s constantly growing, and adapting. Most of us can’t imagine not having this security blanket around us at all times, but for a 7-year old boy that became his reality. He lost most of skin due to a rare genetic skin disease, Epidermolysis Bullosa (EB) is when your skin blisters and tears off at the touch. Epidermolysis Bullosa is often fatal in most cases.
Miracles are glimmers of hope, some people say even forms of magic. Miracles happen everyday, big or small they still surround us. An for this boy his miracle happened from receiving treatment from an experimental gene therapy. This gene therapy consists of a whole “body-graft of genetically modified stem cells.” This amazing recovery has sent him back to school, he is involved in sports.
EB is a mutation in your genes, the gene it affects is the proteins that make up our skin, and the tissues below. This missing protein can cause the skin very weak and limp and it just tears off at minor damage. This exposure of your skin makes it very infection prone, this is very fatal during infancy.
The only form of treatment for EB is doing a daily routine of dressing and undressing your wounds which is very painful process. Victims are paying $100,000 is just the cost of bandages. Peter Marinkovich is a dermatologist at Stanford University, he treats EB victims regularly and described them as “walking burn victims”.
The new treat for EB victims is very similar to what they use for severe burn victims, where they use sheets of the patient’s healthy skin cells, where then it grows and it grafts over the wound. Michele De Luca is a stem cell biologist and a physician at the University of Modena, has been trying to use a new approach by “inserting a new gene into the cells used for grafts.”
Michele De Luca received an urgent call from a group of doctors in Germany, the boy I mentioned earlier, was the topic of conversation. He was missing most of his skin, and had multiple infections and “was in a life-threatening septic state.” He needed treat fast, and this would be the first time the doctors would use this gene therapy on such a severely damaged area.
The doctors used a patch of non blistered skin and began to “culture epidermal cells, which includes stem cells, that periodically regenerates the skin.” They infected the cells with healthy copies of the healthy skin. They also used the healthy skin cells to create healthy skin sheets.
The boy received two major surgeries, at Ruhr University in Bochum Germany. The doctors cover his back, arms, legs and a portion of his chest with healthy skin cells. A month after the surgery the new skin was flourishing! “Most of it began to cover 80% of his body with a strong layer of epidermis.” the researchers were booming with pride. No blisters have appeared in the grafted skin area since the surgery took place two years ago!
I’m speechless by the capabilities we have reached today, this young boy whose life has barely begun, was about to pass in a excruciating way. But it’s almost as if he got a second chance at life, not only has his skin recovered but he is starting to develop a hopeful and bright future.