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As a medical reporter, I write regularly about terrible illnesses and treatments that can help some but not most patients. But the cruel injustice of inequality in access to medical advances in sickle cell anemia took my breath away.
I didn’t plan it that way, but in the end I wrote about two families that were strikingly similar at first. Each had two teenage daughters with sickle cell anemia. All four girls had episodes of severe pain, damage to organs and bones, and life-threatening lung complications. And a couple of sisters had strokes.
But in one family, both girls have been relieved of their symptoms and are now leading normal lives. In the other, the sisters are still suffering and longing for the chance to get rid of the disease.
I followed one of the families for two years and the other for over a year and I am haunted by the differences.
The story of these two families shows in a microcosm the state of the art for this terrible disease. Sickle cell is caused by a single mutation in a globin gene that is needed to make red blood cells. The cells become sickle-shaped and can get stuck in blood vessels, injuring them and obstructing blood flow. An estimated 100,000 Americans have the disease – most of them black and many by modest means. Although the cause of the disease has been known for more than half a century, research has been slow and underfunded. Even discoveries that could improve the patient’s life are often not used.
There is a bone marrow transplant that gives the patient the blood system of a healthy person. But it’s rarely used because few sickle cell patients have a donor whose genetics are close enough to the patient’s that the bone marrow is not rejected as foreign.
In the family, whose teenagers were relieved of their suffering, mother Sheila Cintron was so desperate for a bone marrow donor for her daughters that she and her husband emptied their bank accounts and pulled out their credit cards for repeated in vitro fertilization and genetic testing Embryos hoping to have a baby that could be a donor for their girls.
She eventually succeeded, but her baby was genetically similar to only one of her daughters, Haylee Obando. Haylee had a bone marrow transplant using her younger brother’s cells and was cured.
The other daughter, Helen, was left behind until she was inducted into a clinical trial at Boston Children’s Hospital testing gene therapy for sickle cell anemia.
She no longer suffers from the disease either.
I cheered Helen’s gene therapy. Liberation from illness turned her from a taciturn adolescent whose future at a young age included pain, suffering, and death, to a teenager like any other. She told me that she doesn’t even think about sickle cells anymore.
But the pace of gene therapy trials seems icy, with only a few patients enrolled each year. FDA approval is a year or more away at best.
Nobody expects gene therapy to be the answer for most patients. The cost – which is likely to be $ 1 to 2 million for each patient – will be an obstacle. And the grueling treatment requires chemotherapy and a month in a specialized hospital.
The other family breaks my heart. Dana Jones is divorced and is raising her daughters Kami and Kyra alone. Both had disabling strokes before learning that there was a simple test the girls should have taken every year that identifies children with sickle cells at high risk of stroke – strokes that can largely be prevented with treatment with blood transfusions. The girls are smiley, caring and delightful company. But their suffering is immense – weeks of hospital stays each year, missed school, and a life of almost constant pain that they have learned to accept and not mention until it is unbearable.
I asked Ms. Jones if she would like the girls to have gene therapy.
“Oh god, yes,” she said.
She watches as Kami and Kyra bravely hide their pain. She saw emergency doctors accuse her of faking it to get narcotics. She saw her girls struggle in school because their strokes were affecting their ability to learn. She sees her illness causing more damage to her body every day.
She called and wrote to Boston Children’s to ask if Kami and Kyra could join the trial. You would have to go to Boston for the tedious treatment, but Ms. Jones, who lives in San Antonio, would like to take you there.
She made sure the girls’ names were on a long waiting list for places in the trial.
Now all she can do is wait. And pray.