At 16, she’s a pioneer in the fight to cure Sickle Cell disease

BY GINA KOLATA

Helen Obando, a shy slip of a girl, lay curled in a hospital bed in June waiting for a bag of stem cells from her bone marrow, modified by gene therapy, to start dripping into her chest.

The hope was that the treatment would cure her of sickle cell disease, an inherited blood disorder that can cause excruciating pain, organ damage and early death.

Sedated with Benadryl to prevent an allergic reaction to the garlicky-smelling preservative in the drip, Helen, who at 16 was the youngest person ever to undergo the therapy, was sound asleep for the big moment.

“Wake up,” her younger brother, Ryan, said, shaking her leg so she could push the button to start the drip. But she could not be roused, so he pushed it himself.

Helen’s family and the medical team watched in awe as the pale pink solution of cells flowed in through her left subclavian vein.

It was a critical moment in medical science.

For more than a half century, scientists have known the cause of sickle cell disease: A single mutation in a gene turns red blood cells into rigid crescent or sickle shapes instead of soft discs. These misshapen cells get stuck in veins and arteries, blocking the flow of blood that carries life-giving oxygen to the body and causing the disease’s horrifying hallmark: episodes of agony that begin in babyhood.

Millions of people globally, a vast majority of them Africans, suffer from sickle cell disease. Researchers have worked for decades on improving treatment and finding a cure, but experts say the effort has been hindered by chronic underfunding, in part because most of the estimated 100,000 people in the United States who have the disease are African-American, often poor or of modest means.

The disease also affects people with southern European, Middle Eastern or Asian backgrounds, or those who are Hispanic, like Helen.

This is the story of two quests for a sickle cell cure — one by the Obando family, and one by a determined scientist at Boston Children’s Hospital, Dr. Stuart Orkin, 73, who has labored against the disease since he was a medical resident in the 1970s.

Like many others affected by sickle cell, the Obando family faced a double whammy: not one but two children with the disease, Helen and her older sister, Haylee. They lived with one hope for a cure, a dangerous and sometimes fatal bone marrow transplant usually reserved for those with a healthy sibling as a match. But then they heard about a potential breakthrough: a complex procedure to flip a genetic switch so the body produces healthy blood.

Scientists have been experimenting with gene therapy for two decades, with mixed success. And it will be years before they know if this new procedure is effective in the long term. But if it is, sickle cell disease could be the first common genetic disorder to be cured by manipulating human DNA.

“It’s an exhilarating success story for those of us who have waited and hoped for this day,” said Dr. Francis S. Collins, the director of the National Institutes of Health.

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Curing someone as young as Helen would be especially significant. Sickle cell is progressive, and every year, it wreaks more devastating damage to her body.

If the therapy shuts down the disease in her and another teenager in the same clinical trial at Boston Children’s, scientists will soon begin testing it in even younger children.

Two other gene therapy trials for sickle cell, using different methods, are also underway in the United States. One also aims to flip the genetic switch, while the other adds a new gene. If approved, such cures would almost certainly cost $1 million or more, experts say, raising questions about affordability.

For now, Helen’s therapy is covered by federal research grants. But the hospital has licensed patents it develops to the biotech firm Bluebird Bio, giving the company the option to sell the treatment and pay royalties to the hospital. Bluebird Bio declined to comment on the agreement or speculate on the price of the therapy.

Four weeks after the infusion of stem cells, Helen was strong enough to be discharged. Her bald head wrapped in a pink scarf and held high, she walked out with a mask over her nose and mouth to protect her from germs. She turned the corner in the hallway and was greeted by 30 doctors and nurses blowing bubbles as Girl on Fire by Alicia Keys played.

At home, in Lawrence, Mass., on a sofa with her mother by her side, she put a hand over her eyes and started to sob. Ryan enveloped her in a hug.

She and her family wondered: Would it work? Was her suffering really over?

CONTINUE READING AT: http://www.nytimes.com/2020/01/11/health/sickle-cell-disease-cure.html

In the months after the gene therapy infusion at Boston Children’s, her symptoms disappeared. But doctors had given her blood transfusions while she regrew her own red blood cells, so it was not clear if the absence of symptoms was because of the gene therapy or the transfusions.

As she recovered, Helen returned to her passion: dancing. One day, she came back from her school dance group and told her mother, “My legs hurt. It feels funny.” Ms. Cintron smiled. “That’s soreness,” she explained. Helen laughed. She had only known pain from sickle cell.

Helen was scheduled for her six-month check-up on Dec. 16. By then, all the transfused cells were gone, leaving only blood made by stem cells in her own marrow. The doctors would finally tell her whether the therapy was working.

The day before, she and her parents visited the New England Aquarium in Boston. She was able to stay outside on a cold, blustery day, watching one seal bully the others, barking and fighting. When Helen mentioned that her hands were cold, Ms. Cintron’s stomach clenched in fear. But it was just a normal thing to feel on a winter day.

The next morning, Dr. Esrick delivered the news. Helen’s total hemoglobin level was so high it was nearly normal — a level she had never before achieved even with blood transfusions. She had no signs of sickle cell disease.

“Now you are like me,” her father told her. “I jump in the pool, I run. Now you can do it, too!”

Her family, accustomed to constant vigilance, is only now getting used to normal life.

On Dec. 23, Helen and her mother flew to the family’s new home in Arizona.

Helen recently described her transformed outlook on Facebook.

“This year has been one of the toughest years for me,” she wrote. “I went through a process I never thought I would go through in my life and it’s been one of the best moments of my life. I thank my parents for letting this happen.

“Monday I’m driving out of Lawrence to start a new life and I’m going to live it the best I’ve ever lived life.”