By NHLBI
In 2018, Tesha Samuels made a decision that changed her life. Samuels was born with sickle cell disease (SCD), an inherited blood disorder that caused frequent – sometimes daily – episodes of intense pain.
“I dreamed of a day when I could wake up and not have any pain at all,” she recalled.
Then one day Samuels heard about a National Institutes of Health (NIH) clinical trial testing a gene therapy for severe SCD. She went through the process to enroll and, to her delight, was accepted. During the procedure, Samuels’ own stem cells were collected from her bone marrow, treated using a process that produced healthy red blood cells, and then returned to her body with the goal of curing her disease. Today Samuels is no longer in daily pain, and the increased risk for anemia, heart problems, and even stroke that comes with SCD has also been reduced.
SCD gets its name from the distinctive crescent, or “sickle” shape, that some red blood cells develop due to a mutation of a protein called hemoglobin, which carries oxygen throughout the body. Because of their sickle shape, these red blood cells can block blood flow through the body and cause episodes of debilitating pain, or pain crises.
Not long ago, the only cure for SCD was a bone marrow transplant, which requires a well-matched donor. But, in December 2023, the U.S. Food and Drug Administration approved the first gene therapies to treat SCD – one, a gene-editing approach like the one used for Samuels; the other, a gene-addition approach that adds a gene that stimulates production of fetal hemoglobin, a type of oxygen-carrying blood protein which is normally only found in the red cells of babies in the womb or shortly after birth. Now, there are several ways to manage SCD, including with medicines, blood transfusions, gene therapy, and bone marrow transplants.
Dr. Julie Panepinto, director of the Division of Blood Diseases and Resources at the National Heart, Lung, and Blood Institute (NHLBI), part of the NIH, said these disease-modifying therapies are not only effective, but will be “life-changing” for individuals living with SCD. “They will provide a potential treatment option for many individuals for the first time in their life,” she said.
The NHLBI supports research that can lead to safe, effective new SCD treatments, and Samuels said she knows her role in the clinical trial was an important part of that process.
Since her gene therapy, “everything is different,” she said. “My zest for life is different. In the past, it was all about surviving. Now, I’m thriving. It’s a dream realized.”Visit NHLBI’s clinical trials page to see if you or someone you love is eligible to take part in an NHLBI study on SCD. For more information and resources about SCD and other blood diseases and disorders, visit the NHLBI’s Blood Diseases & Disorders Education Program at www.nhlbi.nih.gov/blood, and to find out more about the impact of SCD on real people. visit the Today’s Faces of Sickle Cell Series.
About
Gene therapy recipient, founder of nonprofit group
Her story: It has been almost six years since Tesha Samuels, 41, first described her sickle cell journey for NHLBI’s Today’s Faces of Sickle Cell series. It was a journey marked by frequent – sometimes daily – pain crises. “I dream of a day in the near future when I can wake up and not have any pain at all. That’s my dream,” she said back in 2017.
Turning point: Over the years, Samuels has tried many approaches to ease her pain, including hydroxyurea and monthly blood transfusions. Nothing seemed to work. Then she found out about an NIH clinical trial for an experimental gene therapy procedure for severe sickle cell disease. In March 2018, she became one of only a handful of people then to receive an autologous gene therapy transplant, in which a patient’s own stem cells are collected from their bone marrow, treated with a gene that produces healthy red blood cells, and returned back to their body with the aim of curing the disease.
Life after gene therapy: “I went from pain every day to barely or no pain. I didn’t think I would ever achieve that,” said Samuels, who is currently an administrative manager for an IT consulting firm in North Carolina. “Everything is different after the gene therapy. My zest for life is different. In the past, it was all about surviving. Now, I’m thriving. It is a dream realized.”
Empowering others: One of the things Samuels says she’s most proud of is starting her own nonprofit organization. She is the founder and president of the Maryland-based Journey to ExSCellenceexternal link, which seeks to raise awareness about sickle cell disease and improve the quality of life of survivors by providing medical, social, financial, and professional development services to those with the disease. “I want to give back to others not as fortunate as me,” Samuels said.
Words of wisdom: “Be your own billboard,” Samuels said. “I wish more people would be willing to share their sickle cell disease status. Let people know about your journey, your pain. The more people can put a face to the disease, the better we can combat the stigma together and recognize the excellence that is in us.”
