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As a medical reporter, I regularly write about severe illnesses, and treatments that can help some, if not most, patients. But the cruel injustice of inequality in access to medical advances in sickle cell disease was breathtaking.
I didn’t plan this way, but at first I ended up writing about two very similar families. Each had two teenage daughters with sickle cell disease. All four girls suffered from severe pain, organ and bone damage, and episodes of life-threatening lung complications. And one pair of sisters had a stroke.
However, in one family, both girls have been free from symptoms and are now living a normal life. On the other hand, the sisters are still suffering and longing for a chance to get rid of their illness.
I have followed one of my family members for two years and the other for over a year, and I am suffering from the disparity.
The story of these two families reveals the scientific state of this horrific disease in the microcosm. Sickle cells are caused by a single mutation in the globin gene needed to make red blood cells. The cells can become sickle, clog the blood vessels, damage the cells, and block blood flow. An estimated 100,000 Americans have the disease — most of them black and many are modest means. The cause of the disease has been known for more than half a century, but research is slow and underfunded. Even discoveries that may improve a patient’s life are often not used.
There are bone marrow transplants that give the patient the blood system of a healthy person. However, it is rarely used because few patients with sickle cell disease have donors whose bone marrow is close enough to the patient’s genetics to avoid being rejected as an outpatient.
In a family where teens have relieved their suffering, her mother Sheila Cintron was desperate to find a bone marrow donor for her daughter, so she and her husband ran out of bank accounts and maximized their credit cards. I tried to use it to the limit and repeated in vitro fertilization. Embryo fertilization and genetic testing in hopes of giving birth to a baby that can be her girl’s donor.
She finally succeeded, but her baby was genetically similar to one of her daughters, Haley Obando. Haley transplanted her brother’s cells into the bone marrow and healed.
Another daughter, Helen, was left behind until she was accepted into a clinical trial at the Boston Children’s Hospital, which tests gene therapy for sickle cell disease.
She is no longer suffering from illness.
We supported Helen’s gene therapy. Freed from illness, she became a teenager like any other, from a reticent adolescent, to a young man who suffered pain, suffering, and childhood death in the future. She told me she wouldn’t even think about sickle cells anymore.
However, the pace of gene therapy trials is glacier-like, with few patients enrolled each year. FDA approval is at most a year away.
No one expects gene therapy to be the answer for most patients. Costs (which are likely to be between $ 1 and $ 2 million per patient) are barriers. And harsh treatment requires chemotherapy and a month in a specialized hospital.
Other families break my heart. Dana Jones is divorced and raises her daughters Kami and Kira alone. Both disabled stroke before they knew that there was a simple test that girls should do each year to identify children with sickle cell disease who are at high risk of stroke. This is a stroke that can be largely prevented by treatment with blood transfusions. The girls are smiling, begging and fun companions. But their suffering is immeasurable. It’s an almost constant painful life where I’ve been hospitalized for weeks and weeks each year, I can’t go to school, I don’t accept until I can’t stand it, and I’ve learned not to mention it.
I asked Mr Jones if he wanted the girl to have gene therapy.
“Oh, that’s right,” she said.
She sees Kami and Kira bravely hide their pain. She saw a doctor in the emergency room accusing her of forging it to get the drug. She has seen her girl struggling at school. Because their stroke hindered their ability to learn. She sees their illness doing more damage to their bodies every day.
She called the Boston Children and wrote a letter asking if Kami and Kira could attend the trial. They would have to go to Boston for a painstaking treatment, but Jones, who lives in San Antonio, was happy to take them there.
She confirmed that the girls’ names were on the long waiting list of the trial slots.
Now all she can do is wait. And pray.
I am suffering from a sister with sickle cell disease: two prosperity. Two people suffered.
Source link I am suffering from a sister with sickle cell disease: two prosperity. Two people suffered.