“In terms of therapy, understanding the type-7 collagen protein has been just as critical as understanding the type-7 collagen gene,” says Marinkovich.

The first patient received the grafts in November 2013. Martinez, a long-standing patient of Marinkovich’s, was the third patient to participate in the trial. He received his grafts on Dec. 1, 2014: one graft on the top of his left hand, two on the top and side of his right hand, two on the side of his left foot, and one near his right heel.

“I don’t know how, or whether, my participation in this trial will benefit me, personally,” says Martinez, who lives alone but requires daily care. Unlike many EB patients, Martinez finished high school and went on to complete a degree in business marketing at a community college. But as the years pass, the disease is taking its toll. His hands are fused, and he no longer holds a job.

“I’m 32 years old, which is quite old for this disease,” says Martinez. “I’m lucky to be alive. I didn’t do this for myself; I did it for the children. I don’t want anyone to go through this. We have to stop this.”

It’s too early to tell whether the skin grafts will help any of the first participants. That’s not even the point of the trial. But physicians and patients are hopeful that grafting even small patches of tissue will make a difference in the recipients’ quality of life — perhaps by preventing blistering on especially vulnerable areas of the body, or slowing or stopping the development of mitten hand, or even helping chronic wounds heal at last.

“We need to not let ‘perfect’ be the enemy of ‘good enough,’” says Tang. “Even just preserving their hand and finger function would be a tremendous step forward.”

Still, Martinez feels that for him, for now, the results have been positive. His grafted skin has not blistered and appears relatively normal.

In May, the team presented preliminary evidence at the annual conference of the Society for Investigative Dermatology that, for the first three patients, the grafted skin expressed type-7 collagen at the basement membrane junction and appeared to have a normal number of anchoring fibrils across the dermis and epidermis.

“Even though my grafts are only the size of a playing card, the results have been life-changing,” says Martinez. “If you can minimize skin breakage, you minimize pain in that area, you minimize the chance of skin cancer in that area. It may not seem like a big deal, but this has really improved my quality of life.”

Spaulding was not a participant in the phase-1 trial. For one thing, he wasn’t yet an adult when the trial was launched. For another, he may not have the “right” mutation in his type-7 collagen gene.

Researchers have found dozens of mutations that can lead to EB. To enter the trial, patients had to have a particular type of mutation near the beginning of the gene. These patients would make just a small portion of the type-7 collagen protein. Exposure to this bit of the protein may reduce the chance that the patient’s immune system will react to, and try to destroy, the full-length protein made by the corrected gene.

“Garrett’s biopsy was inconclusive,” says Montello. “It’s possible that he may have an extra mutation that may preclude him from the trial. But we’re going to check again.”

Meanwhile, life goes on.

“I’ve been working with these patients since the early ’90s,” says Marinkovich. “Yet, I’m still affected every time I see these patients and their families. I could in no way do what they do. They overcome so much just by getting up in the morning. The types of obstacles I face in my life and my research seem minimal in comparison.”

Pain management is always a challenge, of course, with patients attempting to balance the need for comfort with the side effects of medications.

“I have a very high tolerance, and don’t take any pain medication,” says Martinez. “I cherish my mind a lot. Rather than feel like a zombie, I prefer to feel the pain and feel alive.”

Stanford’s EB team hopes to publish preliminary results of the phase-1 clinical trial this summer, but they’ll continue to monitor the impact on the participants for the rest of their lives. Like their patients and their patients’ parents, they are elated that the research has finally progressed this far.

“In the seven years since Jackson was born, we’ve seen tremendous progress,” says Jamie Silver, of the fundraising and advocacy organization, EB Research Partnership, whose son has EB. “This idea of gene therapy for EB wasn’t a reality at the time. It was in the lab, but it wasn’t anywhere near a human. Now, at Stanford, it is in clinical trials. We are seeing tangible progress. That gives us as parents and us as an organization the drive to keep going.”

Spaulding is now a studious young man with a shy, sweet smile and a passion for Apple products. Confined now to a wheelchair, he looks much younger than his 18 years. He struggles with kidney problems and last year he had all his teeth removed because of ongoing dental issues. He’s recently assumed the CEO position in a newly formed family business selling artisan olive oil and vinegars — a position he juggles along with his Advanced Placement classes as a junior at Orestimba High School, in Newman, California. His family started the business when Spaulding expressed a desire to make an impact with his life, however short it may be.

Not surprisingly, some of his doctors were also his first customers.

“They are some of my best friends,” says Spaulding, who has, of course, known many of them all his life. “Dr. Lane talks with me on the phone, and they are always keeping me up-to-date on the latest advances. Their research has already definitely helped me. Some of the new bandaging and skin care techniques have really made a huge difference.” Aggressive bandaging has kept his fingers separated and maintained his hand function — the better to use the new iPad he received from the Make-A-Wish Foundation to do homework and run his business, Montello Fine Foods.

When asked about the ongoing clinical trial, Spaulding is noncommittal, expressing a concern that participation in a future phase could interfere with his school work. But, with his trademark forward-thinking attitude, what he really wants to talk about is olive oil, balsamic vinegar and recipes.

“When he had his teeth removed, I was worried about him,” says Montello. “Here we were starting a business based entirely on food, and he can’t eat. About two weeks after the surgery, I asked him, ‘How are you doing, Garrett? How are you really doing? Are you still the happy little camper I remember, or is this getting to be too much?’ And he looked at me, and smiled that smile, and said, ‘You know, Mom, as long as things don’t get any worse, I wouldn’t mind living to be 100.’”