WASHINGTON — For Wedam Minyila, hospital rooms have always meant blinding pain. "It was like someone stuck a knife in me," he said.
But for a moment on a recent December morning, Weedam, 19, who has sickle cell disease, allowed himself to believe what doctors had been telling him for months: This visit could be the first step toward a cure. As one of the first patients in the world to receive a commercial treatment for a genetic disease, he can begin to imagine a future without excruciating pain.
“I choose to partially believe it,” he said the day he was flown to Children’s National Hospital in Washington, D.C., for stem cell harvesting, the first important step in the revolutionary sickle cell gene therapy process. "But it also comes with doubt: Does it really work?"
Sickle cell disease patients across the country have been asking the same question since the U.S. Food and Drug Administration approved two gene therapies that could cure sickle cell symptoms more than a year ago.
Since then, only a few dozen patients across the country have had access to it. The complexity of the paperwork, the multimillion-dollar price tag and patient concerns about serious side effects mean only a limited number of hospitals have treated patients so far.
In the United States, more than 100,000 people, nine out of ten of whom are black, have sickle cell disease. This genetic disorder causes red blood cells (usually round) to twist into a crescent or sickle shape. Sickle cells often build up in blood vessels, causing excruciating pain, stroke, organ damage and shortened lifespan. New gene therapies, one from Boston-based Vertex Pharmaceuticals and the other from Somerville, Mass.-based Bluebird Biotech, offer a potential treatment.
That's why Wedam overcame his skepticism and went through months of insurance approvals and medical consultations.
"I know what this means to me," he said quietly as a crowd of medical professionals began to flock to his bedside. "But I wasn't as excited as other people before this happened."
His mother, Sylvia, watched breathlessly from the corner of the room. "This is a completely new thing," she said. "I never thought, you know, we would be one of the pacesetters in this. It feels unreal."
But the first step in what she describes as a "miracle" happened right before her eyes: A nurse gave her son a drug to mobilize stem cells normally trapped in the bone marrow into the bloodstream. A few hours later, Wedam was hooked up to a so-called apheresis machine, which pumps blood out of the body, spins it at high speed to separate out millions of stem cells, and returns the remaining blood back into the body. vein.
Dr. Andrew Campbell walked to Wedan's bedside, and the first batch of light orange fluid containing stem cells began to collect in the IV bag hanging next to him.
"You know, you're one of the few in the country and the world to take this major step -- gene therapy," said Campbell, director of the hospital's comprehensive sickle cell disease program. "It took a lot of courage because I knew this was still very new in the process."
Wedam didn't look worried. "I have to do it," he said. "There's nothing I can really give up. So I don't really have a choice."
Over the next few months, Wedam's cells will be shipped to a laboratory in Tennessee, where technicians will use a gene-editing tool called CRISPR to modify the genes in the stem cells so that they produce less Red blood cells that may sickle and block blood flow, causing painful crises.
Wedam will need intensive chemotherapy to destroy his existing stem cells and make room in his bone marrow for the gene-edited cells, which a team at Children's National Hospital will reintroduce into his bloodstream via intravenous injection.
"It's great to be able to provide a treatment that can cure him, get him out of the hospital and potentially prolong his life," said Dr. David Jacobson, director of blood and marrow transplantation at Children's National. “What we can offer now is very, very powerful compared to what we were able to offer five years ago or 10 years ago.”
Even so, Jacobson acknowledges that few patients begin gene therapy. Of the Children's National, which is in the lead after participating in Bluebird Bio's clinical trials, only 10 people, including Wedam, have started or completed the process. The team has treated approximately 1,500 patients with sickle cell disease in the Washington area.
"Initially, hospital leadership was very excited. 'We have dozens of patients who qualify,' they said. We need to build more beds! My sense is we'll get there eventually, but it won't happen immediately," he said. "It's a learning curve for the hospitals and it's a learning curve for the insurance companies. "
Jacobson said his team is ramping up its efforts to start one to two patients a month on treatment, a pace he called "exciting."
"Keep in mind that this is a very high-risk treatment, requiring high doses of chemotherapy and the potential for complications," he said. "So we don't want to grow too fast."
Vertex Pharmaceuticals' months-long treatment Casgevy has a price tag of $2.3 million. Bluebird Bio's Lyfgenia is listed for $3.1 million. Neither includes the cost of hospitalization or chemotherapy care.
To manage the high price tags, insurance companies implement extensive preauthorization procedures. Two pharmaceutical companies told NBC News they have not seen "conclusive denials" of their drugs.
For the limited number of hospitals authorized to perform the procedure, Jacobson said, the procedure is resource-intensive, requiring multiple days in the hospital to collect stem cells and a stay several months later for weeks of chemotherapy and reintroduction of stem cells. During this time, stem cell processing laboratories take several months to genetically modify the cells and conduct safety checks before sending them back to the hospital for infusion.
For patients like Wedam, there are other considerations. Intensive chemotherapy lasts four days, leaving the patient seriously ill and vulnerable to infection. Many people develop sores in their mouths, throats and esophagus, making it almost impossible to eat. In the long term, chemotherapy can increase the risk of cancer and infertility.
For all of these reasons, only one patient completed the procedure at City of Hope Children's Cancer Center in Los Angeles. Dr. Leo Wang, a pediatric hematology oncologist at the center, said he expects that number to rise rapidly in the months after "early adopters" begin to see success.
"We're very hopeful that acceptance will increase and become more accessible to those who may be more risk-averse," Wang said. "We've seen patients come in and ask us about it and say , 'Well, I'd really like to talk to someone who's been through this and get their perspective, and then maybe I'll be interested in doing that.'
This is one of Wedam's motivations for becoming an "early adopter." "If all these people could see me and see that it works, they would have some hope," he said. "Even just a little bit."
The disease robbed him of the ability to do anything, including get out of bed. But the idea of a cure led him to dream of one day becoming a filmmaker.
These days, his ambitions are much more modest—he wants to take college classes in person rather than online.
"Right now, I don't really keep up with most of my friends, so I can make new friends," he said. "I learn the material better if I ask actual questions from the teacher in person. I just feel like, being a normal person and doing what normal people do, I think that's what really excites me."
The disease has plagued the Minnilla family for nearly two decades. In addition to Wedam, his 14-year-old brother Wekem also has sickle cell disease.
"It took away almost everything," Sylvia Minnilla said. "It takes away our joy."
Wedam was once a happy boy who loved school and dancing, she said. But once his pain crises began around middle school, he changed, she said.
"He became withdrawn. Anywhere there was bone, he had pain," she said. "Everywhere in the house you could hear him moaning. It was a question I used to think about a lot: 'Am I going to lose him?' "Because he was in so much pain."
Before the advent of gene therapy, the only treatment for sickle cell disease was a stem cell transplant from a donor. This worked for Wickham after Sylvia found herself matched with her youngest son. After some horrific complications, the surgery was successful.
But antibodies in Wedam's blood prevented the same treatment from being given to him.
"I was ecstatic. I said, 'God, you've done all this for me. But where is my other son?'" Sylvia said through tears. "I hope Wedam can do the same."
She said that when doctors at Children's Hospital called her a few months later to tell her that Wedan might be a good candidate for a new gene therapy, it felt like a double miracle — her prayers had been answered.
"What I kept asking was: 'Does it work? Does this condition require medication? Is he going to have a pain crisis?' They said, 'No.' "I said: 'We're in. We're in.'"
Since treatment, Wedam has watched his brother transform and even used his newfound energy to teach himself how to ride a bike. The excruciating pain before Waken's stem cell transplant made that impossible.
Weeken said he looks forward to seeing his brother recover.
"I feel like it changed the life he was going to live," Weeken said. "I really don't think we're going to have anything else where he can be treated and cured."
But Wedam remains skeptical. "Maybe 60 percent," he said of the chance of a cure.
Still, he said, even with the possibility of life-threatening complications, if there's a chance of mitigating future pain, it's worth a try.
NBC News will continue to follow Wedam Minyila's journey as he begins the next phase of his sickle cell treatment.