FDA approves first gene therapy for rare skin disease, but costs are outrageous

The bandages can't hide the terrible pain, but now there is hope for 15-year-old, Rafi Kopelan, of Longmont.

The FDA has approved the first gene therapy for a treatment called Vijuvek by Krystal Biotech. 

"I am definitely very excited. It means that I will be in a lot less pain," said Rafi, who was in school when she got word of the FDA's action. "I was jumping up and down in my class in my wheelchair."

"She was incredibly excited. We've been waiting for this," her father Brett added. 

Trials have proven successful for those with the genetic illness called EB for short. The gel not only heals the wounds but prevents new blisters. 

Rafi's father Brett is the executive director of DEBRA of America, which supports individuals with the disease.

"I think she now has a very strong chance at a meaningful independent life where prior to this, that it was a question mark," he said.

Rafi was born with missing skin on her feet and hands. She continues to suffer pain and itching from blisters and must have her bandages changed regularly

She recently traveled to California for an EB fundraiser. There she met celebrities like Courteney Cox of the TV series "Friends."

Showing a picture on her phone of her and the star, Rafi says she enjoyed the trip greatly.

"It was super fun. I got to meet a lot of EB kids and adults and see how they're doing," she said. 

But there are still difficult times ahead. The new drug can cost up to $500,000 a year to use, according to Brett.    

"Here in Colorado Rafi is on Medicaid and they do a wonderful job taking care of kids with complex diseases," he said.

It is expected that Rafi will be able to use the new gene therapy as soon as July. She said she is looking forward to it. 

"I will definitely have a better lifestyle, sleep more."

Her father sees the drug as a game changer, "Now that she has the ability to heal wounds she will be in less pain hopefully be more mobile gain more independence"

The future is looking brighter for Rafi, who wants to become an early education teacher and overcome what is deemed, "the worst disease you never heard of."