A simple blood test that would have warned Lametra Scott and her husband Rickey Buggs that they each had a genetic condition that could cause a baby to be born with a disease was never given to them.
She only learned she had the gene after a blood test. Mr. Buggs was discharged from the Marines around the same time and was told that he was a carrier.
They went ahead with the pregnancy, hoping their baby would be spared, but luck was not with them. Rickey was born with a blood disorder that would cause him pain throughout his life, and he was likely to die from it.
Dr. Scott is the director of pharmacy for the Tennessee Department of Correction.
Rickey has a lot of pain in his shins. Red blood cells that are stiff and sickle-shaped get caught in his blood vessels, blocking the flow, damaging their linings and causing pain because they are deprived of oxygen-carrying blood.
His mother tries to instill in him the resolve to be strong and take each day as it comes by giving him pain relief, massage, heating pads, and taking him to the hospital when the pain is unbearable.
She is haunted by a question: What if she knew before she got pregnant that her child might have a genetic condition?
About 100,000 people in the United States have the disease, which affects mostly Americans of African descent, but also people of Hispanic, Indian and Mediterranean ancestry. Few of the couples at risk for having babies with a blood disorder know about it.
A person who has the same genes as one parent has a different trait than the disease. If both partners in a couple have the trait, there is a one in four chance that the baby will inherit it from them.
There isn't a routine testing of adults for the trait. The American medical system does not ensure that parents-to-be get a simple, inexpensive blood test that would inform them if they carry the sickle cell trait, despite the fact that medical science is close to a cure for the disease.
The University of California, San Francisco's Vichinsky believes that sickle cell is the worst and best health care. People don't get new therapies and testing.
Dr. Michael R. DeBaun, Rickey's doctor, said that there were no quality measures for preconception genetic counseling in the U.S.
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Rickey's doctor says families need to be counseled on their risk of having a baby with a genetic disease before they have a child.
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Dr. Scott encourages her son, Rickey, to take each day as it comes.
The guidelines from the American College of Obstetricians and Gynecologists say that couples should be tested for the genetic condition before having a baby.
He said that part of the problem was an educational one. The guideline has not trickled down to people.
The U.S. Preventive Services Task Force, an independent panel of experts that advises the federal government on screening tests and services to prevent disease, has never considered sickle cell. Doug Owens, chairman of the department of health policy in the school of medicine, explained in an interview that the task force only studies diseases that are nominated by the public. Dr. Owens said that screening for sickle cell trait is important.
The outrage that happened to Dr. Scott and Mr. Buggs is still common.
After learning that they both had the same trait, Dr. Scott suggested the couple see a genetic counselor. Dr. Scott declined. She was a doctor and thought she had only two options, continue the pregnancy or have the baby aborted if it had the disease. They decided to take a chance.
She said that their lives would have been different had they known they were carriers of the trait. They could have decided to have children or not.
Preimplantation genetic diagnosis was a third choice. She would have had her eggs removed and fertilized with her husband's sperm. She wouldn't have been able to have a baby if the embryos that didn't carry the mutation had been implanted.
The procedure can cost tens of thousands of dollars. The lifetime costs of medical care for a person with sickle cell are over $2 million according to a study.
Dr. Scott said that he would have had a genetic diagnosis.
Dr. Scott and Mr. Buggs were in shock when they found out their baby had the disease. She looked for support groups on Facebook.
She said that people were always in the hospital. My baby is a few months old. Is this what will happen to him?
She said she started praying hard.
She and her husband are always looking after Rickey. He can't remember when he first realized he had it, but he does know that it's a way of life. His mother makes him live each day.
She said that she told him to tell his own story. You can get through everything if your mind is in the right place.
Rickey said that he can still have fun.
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Rickey wore a shirt with a slogan: Due to Video Games, Sleep is Canceled.
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Rickey says he can still have fun. He attends an after-school program at a gymnastics facility.
His passion is video games. He wore a shirt with a slogan: Due to Video Games, Sleep is Canceled. He sat through the interview waiting for the moment when he could play.
Rickey's parents consulted with Dr. DeBaun and decided soccer was too risky. Dr. Scott bought him a wet suit because he wanted to swim and because cold can cause pain crises.
His parents hope he will be free of the disease one day.
There will be a cure for him in his lifetime, Ms. Scott said. I am praying it will be before he is 21.
It sounds obvious. All adults should be tested for the sickle cell trait. It is anything but simple. Black people with the trait have faced discrimination.
People with the trait were barred from the Air Force Academy and charged higher rates for life insurance.
This dismal history includes the discovery of the cause of sickle cell by Linus Pauling. He said he wanted to make sure young people with the trait knew they could not have children or have abortions if their baby had the disease.
The specter of discrimination, racism and even accusations of genocide was raised by genetic counseling, difficulties with insurance coverage and employment restrictions.
Efforts to develop a public health strategy to test and inform those who have the trait have been complicated by the history of the disease in the United States.
Newborns can be tested for both sickle cell disease and sickle cell trait. At least one parent has the trait if a baby has it. Parents should be counseled and tested to see if their children are at risk of having the disease.
It is up to each state to decide what to do with the newborn screening results. Practices can vary a lot.
The information chain can end there if the baby's doctor is told if the child has a genetic condition.
In big cities, the baby is often cared for in a public health clinic with no assigned pediatrician at birth, according to Dr. Ohene-Frempong. There is no follow-up after the test results are noted in the mother's chart.
Mary Brown, president of the California Sickle Cell Disease Foundation, said that despite the guidelines, pediatricians may not be informed. She said that the test results might just sit on a shelf.
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In the 70s, the Black panthers made a push to raise awareness about the disease. They held a testing drive in 1972 at the Civic Auditorium.
In the early 1970s, the Black Panther's made a concerted effort to improve health care for Black people. Testing was controversial, but Black pride and self-sufficiency were emphasized. They wanted to test for high blood pressure and elevated levels of lead in the blood.
Bobby Seale instructed the Black Panther chapters to open health care clinics. There was a large effort in Oakland, Calif., staffed by volunteers. Clinics were held on the streets in good weather and in the offices in bad weather, according to a former member of the team.
Professor Joseph said that the volunteers counseled people who had the trait that if they were dating or married that should be something they should consider.
Dr. Vichinsky noted that the focus is no longer on sickle cell disease.
In California, the state requires the doctor in the hospital to inform the family of the baby's trait and to give contacts for the Sickle Cell Disease Foundation of California, the only group authorized to provide counseling. Deborah Green said that it was on the parent to follow up. The foundation can not contact the parents.
The assumption is that people who get the letter understand it. People may not get the letter.
The state sends a second letter to the parents if they don't contact the foundation, as well as giving them the phone number for the Sickle Cell Foundation.
He said that between 10 and 15 percent of families are notified each year.
The mother of Rickey's best friend asked her if she had ever thought about forming a foundation for the disease.
Dr. Scott thought about how she could help people learn from her and her husband's experiences, both about the need to get screened for the sickle cell trait before conception and the full range of choices if both partners carried the same trait.
She started a nonprofit in 2015. Her husband helped with market events.
You never know what you can do until you do it.
She takes little Rickey with her whenever she can, because it is an all-volunteer effort. She travels to schools and churches to spread the word.
Dr. Scott said that she cherished small victories.
She raised money for the woman caring for her nephew who has a disease. He was 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 800-273-3217 He said that his aunt was washing sheets all the time.
Dr. Scott gave the family supplies.
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Dr. Scott prepared Rickey's medicine at home.
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People living with a disease and their caregivers attend a virtual support meeting.
Dr. Scott is called an army of one by Dr. DeBaun.
He said the effort is important. It is a lonely job for a mother who is focused on changing health care delivery for a rare disease that affects African Americans.
Dr. Scott takes Rickey with her on her travels to educate the public.
She said that people think it is all gloom and doom. I want him to speak up and encourage others in his own way.
She said she felt like it was a ministry. I will have changed a generation if I only make a difference in one person's life.
