In the United States, about 2,000 babies every year are diagnosed with sickle cell disease when they undergo newborn screening tests. While people with African ancestry are the largest group affected by this disease, it can also affect other ethnic groups. Those with Hispanic ancestry are the next most affected group. In September, hematologists and advocates for people with sickle cell disease take time to educate the community about this disease.
Alaundra Carmouche, RN, MSN, FNP-C, works with families affected by sickle cell disease at Texas Children’s Cancer and Hematology Center and appreciates the work that goes into increasing sickle cell awareness.
“A lot of my families are not aware of sickle cell until they have a kid with sickle cell disease. Some families are not even aware that they have the trait,” she said.
So what is sickle cell disease and what is sickle cell trait?
Sickle cell disease is a genetic disorder that changes the shape and function of red blood cells. Normal red blood cells are round, but those affected by sickle cell disease have a crescent or sickle shape that interferes with their normal function and can even lead to organ damage. To inherit the disease, a person must have two copies of the sickle cell gene. People who only have one copy of the gene are said to have sickle cell trait and, while they don’t show any signs of disease, they’re capable of passing that gene to a child.
Sickle cell disease can be a heavy burden for families with children who are affected.
“Some symptoms may not show up until later in life, but it depends on the individual,” Carmouche said. “I see a balance of some with severe disease doing well and some who, no matter what they do, still have complications of severe sickle cell disease.”
Life prolonging treatment for sickle cell disease is available
Learning that a baby has sickle cell disease can be overwhelming for new parents who are already going through a time of transition. Carmouche welcomes families into her clinic with babies as young as 3 weeks old to offer guidance about caring for a child with sickle cell disease.
“I am proud that management of sickle cell disease has come a long way. We have more treatments and more therapies to be able to manage the disease,” said Carmouche. Different types of sickle cell disease may require different medications that have to be taken on a regular basis to protect organ function and prevent the pain associated with the disease. Other medications are used when a person experiences acute pain, known as a pain crisis, or if there are signs of organ damage.
“One of the goals is to get on the medication at an early age and maintain it so that you can suppress some of those sickle cells from circulating or developing,” said Carmouche. “Imagine someone not taking the medications, and it’s a progressive disorder, knowing that those cells are circulating everywhere, hitting every organ. By the time you reach adulthood, you can have heart and lung issues from the damage over time.”
Helping families navigate the sickle cell disease diagnosis
Carmouche knows that understanding the different symptoms and treatment options can be a challenge for parents and focuses on providing the necessary information while putting families at ease. She encourages families to do independent research and come to the clinic prepared to discuss their questions and concerns.
“Understand that sickle cell disease a manageable disorder,” she said.
Teaching parents how to advocate for their children is also an important part of caring for the whole family. Some children may experience pain crises frequently, and parents can get their children the help that they need by staying in close contact with their hematologist and being prepared to teach others, whether they are healthcare professionals or school administrators, about the way that sickle cell disease affects their child’s life.
Carmouche suggests that parents “ask questions and communicate. Especially if you’re a patient at Texas Children’s Hospital, we’re all here on this team willing and able to advocate and wish for the best for families.”
To learn more about sickle cell care at Texas Children’s, or to request an appointment if your child has been diagnosed with sickle cell disease, call 1-800-226-2379.