When Constance Benson* was 25 years old, she was living her dream as a model with a major agency. One day, while receiving treatment for a pain crisis in the hospital, she realized she wasn’t well enough to travel any longer – so she gave up her modeling dream. As a sickle cell warrior, Constance had already left college because she was unable to keep up with school work as a result of her unpredictable pain crises.
She was uncertain of her future. She recalls feeling tormented by the response of medical professionals who doubted the severity of her condition – with one nurse telling her she was too pretty to be sick. Constance considered it divine intervention when she learned that a blood stem cell or marrow transplant could cure her from sickle cell disease. Her parents are both nurses, but it wasn’t until her mom was caring for a patient whose son had just had a transplant to cure his sickle cell disease that she learned this was even a treatment option.
To date, hundreds of people in the USA and around the world have been cured of sickle cell disease following blood stem cell or marrow transplants from compatible donors. Like Constance, too often people are unaware that transplant is even an option.
Progress Has Been Slow but Today More Options for Treating Severe Sickle Cell Disease Are Emerging
A new day has arisen for sickle cell disease treatment. For the first time, increasingly more medical and research efforts are directed at better understanding and treating sickle cell disease. Historically, progress in developing new treatments for sickle cell disease had been slow. This has been in part due to the complexity of sickle cell disease itself and underfunding compared to other potentially life-threatening genetic diseases.
Among children under the age of 16 battling sickle cell disease, about 95% were cured from sickle cell disease after a transplant from a matched sibling. A blood stem cell or marrow transplant from a matched sibling is now considered a pediatric standard of care by many doctors, and transplant from matched unrelated donors are becoming more common.
Too often people suffering from severe sickle cell disease are unaware of treatments that exist and may be available to them. For example, clinical trials that offer cutting-edge treatment options like blood stem cell or marrow transplantation may be an appropriate path for someone who is not responding well to prescribed therapies. Clinical trials are highly regulated and administered by medical experts. They are designed to assess the safety and effectiveness of new treatments. A benefit of clinical trials includes access to specialized care for your condition with built-in safety measures.
With a transplant, blood stem cells or marrow is extracted from a compatible donor and given to a sickle cell disease patient via IV. The donor’s healthy blood-forming stem cells, which create healthy red blood cells, replace a patient’s unhealthy stem cells that made sickled red blood cells. For the person with sickle cell disease, a successful transplant can mean no more sickled red blood cells with no more blocked blood vessels and no more damage from ruptured cells. Some people will even see existing damage improve with the introduction of healthy blood stem cells. Risks do exist for transplant, but doctors can inform a patient about the benefits and risks of such a procedure so that the patient and their family can make an informed decision about proceeding.
Transplant too often is dismissed as an option for people with sickle cell disease by themselves, or by their families, or even by their physicians because of concerns that the financial cost would be prohibitive. There are financial resources available to assist families considering transplant as an option, so it should not be ruled out as a treatment for a person battling advanced sickle cell disease.
As representatives from Be the Match and the Sickle Cell Transplant Advocacy and Research Alliance (STAR), we want to encourage people with sickle cell disease and their loved ones to be empowered – to educate themselves about new treatment options, to ask questions of their primary care or hematology providers and to consider participating in clinical trials if other treatments are not working.
More Black Donors are Needed: Patients Turn to Family First, Then to Be The Match
Constance’s younger sister was a perfect match for her. Today, Constance is living free from sickle cell disease after a successful marrow transplant seven years ago. She was able to return to college and obtained her bachelor’s degree, and she is committed to spreading awareness of the need for more diverse donors on the Be The Match Registry.
Nearly 1 out of 5 people with sickle cell disease will find a match within their family. Those without a match in their family turn to Be The Match, the national marrow donor program, to try to find an unrelated donor willing to help a complete stranger find their cure.
When searches are performed for Black patients, there is a 23% chance of finding a compatible donor on the Be The Match Registry. This is because race and ethnicity play a role in finding a matched blood stem cell or marrow donor. The makeup of each of our cells is as diverse as the places our grandparents and ancestors came from – and people of African descent have more unique and complex genes than other races. Currently, only 4% of the 20 million donors on the world’s largest registry are Black or African American. Given all the diversity among persons of African descent, more donors are needed.
This underrepresentation can be improved by more Black donors joining the registry – and it only takes a cheek swab to get started. It’s important to note that not only people with sickle cell disease, but patients battling blood cancers like leukemia or serious blood disorders like aplastic anemia, also are searching for matches on the registry. There is an urgent need for more racially and ethnically diverse donors to join the registry. Visit http://www.endsicklecell.org to learn how.
Free Patient Resources
A diagnosis of sickle cell disease can mean frequent emergencies, life threatening infections, irreversible organ damage, and even early death. Sickle cell disease frequently denies patients and families what any of us would want – comfort, time, growth and financial stability. Sickle cell disease causes excruciating acute pain in children and, as patients age, the pain becomes chronic and debilitating for adults. STAR is comprised of hematologists and supporters of the sickle cell community who are dedicated to advancing research that will help lead to a cure for sickle cell disease. We have partnered with Be The Match to ensure that people with sickle cell have access to free resources, including information about clinical trials, access to certified nurses and patient navigators to learn more about transplant as an option, and a new Peer Connect program that will match existing patients with sickle cell transplant recipients. For more information, call the Be The Match Patient Support Center at (888) 999-6743 or visit http://www.bethematch.org/sicklecell. To learn more about research initiatives and success stories being supported by STAR, visit http://www.curesicklenow.org.
Ending Sickle Cell Disease
Currently, the only cure for sickle cell is a blood stem cell or bone marrow transplant, but new methods of gene therapy are now also being tested. With more than 100,000 persons with sickle cell disease in the U.S. today, the need for safe and effective treatment options and the need for more donors is high.
We hope that EBONY readers will take action to help address sickle cell disease in the Black community:
- First, reach out to loved ones battling sickle cell disease and encourage them to learn about the treatment options available to them, particularly if they have severe symptoms like strokes or organ failure as a result of their disease. Talk to your doctor about clinical trials you qualify for.
- Second, join the Be The Match registry so more patients can find the matched donors they so urgently need. You could be the cure someone is hoping for.
- Third, know your sickle cell trait status. One in 13 African Americans will be born with sickle cell trait. There is a 25% that your child will have sickle cell disease if both you and your partner have the trait. Knowing your trait status and that of your partner can help understand the risks of having a child affected by this painful, debilitating disease.
Disclosure: Constance Benson and her family have given consent to Be The Match to share her story.
About Sickle Cell
In the USA, approximately 1 in 365 people of African descent will be born with sickle cell disease, an inherited blood disorder where red blood cells are abnormal. Healthy red blood cells are soft and oval-shaped as they travel throughout the body delivering oxygen to organs. Red blood cells that contain sickle hemoglobin can become stiff and crescent-shaped. Sickled cells block blood flow, causing excruciating pain, lung damage and potential strokes. They also rupture, releasing debris that causes damage to blood vessels.
Treatment for Sickle Cell
Some people with sickle cell disease manage symptoms as they come. Other patients take a daily medication that decreases the likelihood of forming sickled red blood cells. Still others might receive chronic red blood cell transfusions to reduce the number of sickled cells in their bloodstream. Additional patients choose to participate in clinical trials to pursue new treatments that offer a chance at a cure. Visit http://www.Clinicaltrials.gov to learn about qualifying to participate in a trial.