MESA, Ariz. - Helen Obando, 18 and soon to be a high school senior, nibbled French fries at a cafe and chatted about her future. Dressed in a halter top and shorts, her toenails painted turquoise, she described her plans to enroll at a community college, teach hip-hop dance and become a trauma nurse someday.
For most of her life, such modest dreams would have been unattainable. Helen was born with sickle cell disease. Since babyhood, she had experienced episodes of searing pain, hospitalization and organ damage, and would have been expected to die in her 40s.
But in 2019 she became the first American teenager with sickle cell to be declared free of the disease six months after undergoing an experimental gene therapy meant to cure her. Her symptoms have vanished. She assures teenagers she met at a camp for children with sickle cell: "One day they can have what I had."
Such therapies are years off unless the federal government finds a way to speed progress.
This is a time of great promise for Americans with the disease, who are mostly Black. In recent years, clinical trials of three gene therapies for sickle cell have produced astonishing results for a few dozen lucky participants like Helen, raising hopes that a cure could be at hand for some, if not many, of the 100,000 people in the United States who have the disease. And in the midst of a pandemic that has laid bare profound racial inequities in health care, President Joe Biden has pledged to combat them.
But the hope is shadowed by a legacy of underinvestment in treatments for sickle cell compared with diseases that mostly afflict white people, researchers have shown. Only four medications have been approved for the disease - and even they are often not used.
As inspiring as the early gene therapy results have been, the pace of progress has been slowed by the same factor that could greatly limit the treatments' wide availability if and when they come to market: their sheer expense, with an expected price tag of $1 million to $2 million per patient.
Dr. Francis Collins, director of the National Institutes of Health and a geneticist who has long pushed for more research into sickle cell, an inherited disease, said in an interview that he had been in "high-level talks" with officials at the Centers for Medicaid and Medicare Services for two years about covering the cost of experimental sickle cell therapies for patients in clinical trials, which would greatly speed the process. He noted that the price of a potentially curative one-time treatment would be significantly less than the lifetime cost of caring for people with the disease.
The federal government has paid such costs before for bone-marrow transplants for sickle cell, for example, and amyloid positron emission tomography (PET) brain scans for Alzheimer's disease. But, Collins said, the progress of his talks with health officials slowed with the change of presidential administrations; the appointment of a new director for the Centers for Medicaid and Medicare Services, Dr. Chiquita Brooks-LaSure, only in May; and the overwhelming focus on the pandemic. Collins said he would meet with Brooks-LaSure and her team in October to discuss his proposal.
"A lot of other diseases have gotten way more attention," he said, a situation he attributed in large part to systemic racism. With the excitement over gene therapy, Collins added, "we might make up for decades of neglect."
The clinical trials, run by Bluebird Bio, Boston Children's Hospital and Vertex Therapeutics, have changed the lives of the lucky patients like Helen who got them. Almost all the few dozen patients in the trials who passed the six-month marker since their treatments ended have had stunning results like hers.
Researchers will follow these patients for 15 years to see if there are long-term complications, or if they remain free of sickle cell and can be considered truly cured.
One concern is that altering genes to rid them of sickle cell could introduce mutations that cause cancer. Bluebird Bio, one of the companies testing a gene therapy for sickle cell - not Helen's - recently paused its clinical trial after two patients developed cancer to study whether their illnesses were caused by the treatment. But further investigation exonerated the gene therapy, and the Food and Drug Administration allowed the studies to resume.