From Pain to Possibility: Angel’s Journey to Curing Sickle Cell Disease

Angel tried out for her high school track team on a spring school day and awoke the next morning with intense pain throughout her body. She had never experienced this pain before, but she’d seen her family members endure painful episodes while dealing with sickle cell disease. The sickle cell gene ran in her family, and one of her brothers also has sickle cell disease. 

Sickle cell disease is a genetic disorder that causes red blood cells to become misshapen, like sickles, which can block blood flow and lead to pain and other health problems. Angel had been diagnosed with sickle cell disease at birth, but hadn’t faced any symptoms until then. 

Angel went to her local hospital, but due to the intensity and persistence of her pain she was transferred to the emergency department at Ann & Robert H. Lurie Children’s Hospital of Chicago. Because Angel has the sickle cell gene, she had been seeing specialists in the Sickle Cell Disease Program at Lurie Children’s since she was a young girl. But she never had painful symptoms until now. This became the first of many frequent hospital visits to deal with symptoms of her sickle cell disease, beginning a cycle of missing school to deal with her pain and struggling to catch up with the work she’d missed. A trying time, Angel was managing her stress and symptoms while worried about how her pain might inhibit her dreams of going to college and becoming a nurse.

Having lived most of her childhood without painful episodes, Angel knew all that she was missing out on, and wanted to get better. Curing sickle cell disease is possible through a stem cell transplant but requires a donor match. Some sickle cell patients can be cured by stem cells donated from a sibling, but one of Angel’s brothers has the sickle cell gene and the other has sickle cell disease, so she had to consider other options.

Specialists at Lurie Children’s told Angel about a gene therapy that could functionally cure sickle cell disease and relieve her symptoms. The one-time potentially curative gene therapy works to alter an important gene in the body called BCL11A so the body can produce healthy red blood cells instead of sickled red blood cells. Although there were potential side effects, she became committed to doing whatever it took to become a candidate for gene therapy. 

Angel worked with her hematology team at Lurie Children’s to gain strength so that she could undergo gene therapy. Her care team involved specialists across different subspecialties who monitored and tested her lungs, heart and liver leading up to the treatment to ensure she was in good health. 

Angel underwent chemotherapy as part of her preparation for the gene therapy. Going through chemotherapy as a child or teenager can create uncertainties around fertility later in life. At Lurie Children’s, Angel was able to speak with specialists from the Fertility & Hormone Restoration & Preservation Program before beginning chemotherapy and came up with a plan to preserve her fertility, giving her the option to still have biological children one day.

The day of the treatment, Angel felt relaxed and eager to take the next step toward improving her health. The gene therapy product was administered intravenously and only took a few hours. Angel received her gene therapy around Thanksgiving in 2022. Though it can take up to a year to start noticing changes, Angel began feeling changes in December 2022 and as of summer 2024 she was pain-free.

Through gene therapy, Angel has been able to achieve a functional cure for her sickle cell disease and regain control of her life. She will continue to be followed by her sickle cell team for many years to make sure she does not develop any long-term side effects from the gene therapy or late health problems from having had sickle cell disease. 

Angel said, “I would tell other people with sickle cell disease who are considering gene therapy to do it. Even if it just made me a little bit better it was worth it.” Today Angel is in nursing school and hasn’t had to worry about her symptoms interfering with her education. She says she can see herself becoming a nurse in hematology and wants to encourage others with sickle cell disease to pursue gene therapy.

The Sickle Cell Disease Program at Lurie Children’s is a nationally recognized center of excellence that meets the specific needs of patients in a kid-friendly and family-focused environment. Learn more at: https://www.luriechildrens.org/en/specialties-conditions/sickle-cell-disease-program/