Bryanna's Story is Bringing Back Sickle Cell Awareness

June 19th is World Sickle Cell Day

By Courtney Daly-Pavone, Publisher of Macaroni Kid Central San Diego, CA June 25, 2018

Bryanna Frias shared the interests of a lot of teenage girls. She loved social media, make-up, and dreamed of becoming a model, but Bryanna lived with Sickle Cell Disease, a blood disorder that causes red blood cells that are normally shaped round to become crescent-shaped. Red blood cells carry oxygen to every part of your body, but when they are misshapen, they can get stuck inside smaller blood vessels. This keeps blood from flowing to important organs like the brain, heart, and kidneys that need constant blood flow to work properly.

Sadly, Bryanna lost her battle with sickle cell and passed away last February, making international news. Bryanna was the step-sister of pop singer Jordin Sparks, and that shed light on this disease that plagues so many people. I spoke to Bryanna's mom Veronica Frias about her daughter and Sickle Cell Awareness, and she recalled the day she found out about her daughter's health. "When she was born, before we went home from the hospital, they took a small sample of her blood and sent it for testing through the Department of Health. About one month later, I received a bright pink pamphlet that alerted me to make an appointment with a hematologist because my daughter had tested positive for a form of sickle cell."

A sickle cell diagnosis did not deter Bryanna from living her life, even though she was frequently in the hospital.

According to Veronica, "When she was well, we did everything to live that way, and when she was ill, we approached it as 'we will be out soon and back to our normal.'"

Ms. Frias describes sickle cell as an individual disease and explains that no two people will exhibit the same symptoms. "Children with sickle cell are often not seen as sick because the symptoms tend to be more internal and unseen, but sickle cell comes with crippling pain and a host of complications. Children with sickle cell have the same hopes and dreams as any other child. For my daughter, her sickle cell was always her 'normal' but she led anything but a 'normal' life. There were frequent hospitalizations, follow-ups, treatments, medications, and navigating of the healthcare system and the educational system."

Veronica advises parents of children with sickle cell to be their child's advocate. "Only you as the parent know what is your child's "normal". You are with your child day in and day out, so you know the difference in energy level or the difference in degrees of the illness. Stay informed, research and never be afraid to ask your doctor questions. I would carry a composition book where I would track her medications. You are an integral part of their care, so don't forget that."

Ms. Frias wants her daughter "to be remembered as a brave, strong, and beautiful young lady who despite the mountain of obstacles before her, always wanted to be treated like a 'regular' child."

What You Need to Know About Sickle Cell Disease

  • Sickle cell is not contagious.
  • 2 million Americans carry the genetic trait for sickle cell.
  • 100,000 people in the U.S. are living with the disease.

How Did Sickle Cell Evolve?
According to the American Anthropological Association, the gene variant for sickle cell evolved as the body's response to resist malaria. "In the malaria belt regions of Africa, the Middle East, Southern Europe, and South Asia, this gene variant flourished because the benefits of malaria resistance outweighed the negative impact of sickle cell disease. Sickle cell is found more frequently in persons of Middle Eastern, Indian, Mediterranean, and African heritage because those geographic regions are most prone to malaria. The gene variant for sickle cell disease is related to malaria, not skin color."

Current Treatment for Sickle Cell
According to Jenny Kim, M.D., bone marrow transplants can cure sickle cell by replacing the sickle cell-producing bone marrow from the patient with donor marrow or stem cells that produce non-sickle blood, or a low percentage of sickle blood from a donor with sickle cell trait." Dr. Kim states, "We have bone marrow transplant protocols at Rady Children's Hospital that have been successful in treating children with sickle cell disease."

Finding Bone Marrow Matches is Harder for Certain Ethnic Groups
 Donor marrow, or stem cells, can come from a family member, and an ideal match would be a full sibling. It can also come from unrelated marrow, a stem cell donor, or even umbilical cord blood stem cells.

Unfortunately, it's not always easy finding a match, particularly for certain ethnic groups. While Caucasians can expect a 93% chance of finding a match, the odds aren't as high for minorities: 73% for Asian-Americans, 72% for Latinos, and 66% for African-Americans, according to the national registry Be the Match.

Gene Therapy, Gene Editing May Cure Sickle Cell in the Future
Dr. Kim states, "At some point, stem cell transplant or gene therapy may be able to be performed in utero. Currently, gene therapy and gene editing strategies for sickle cell are only available as part of clinical research trials."

Resources Available for Sickle Cell Patients