Navigating Sickle Cell Disease: Essynce’s inspiring journey

Essynce is a vibrant 14-year-old with a passion for dance and a bright future ahead. As a 9th grader, she not only excels in her studies, especially in math, but she also dreams of becoming a hematologist. Her journey with sickle cell disease has inspired her to pursue a career where she can help others like herself.  

Essynce’s journey with sickle cell disease began soon after her birth. Although her condition was not detected during pregnancy, a routine checkup with her pediatrician at two weeks old led to blood work that confirmed the diagnosis. The news was unexpected and overwhelming for Kizzy, Essynce’s mom.  

“I remember feeling completely devastated,” said Kizzy. “I didn’t know much about sickle cell disease at the time. I kept blaming myself for her sickle cell disease. I went through a lot of self-blame and guilt.” 

Kizzy sought help from a counselor to work through these feelings.  

“The counselor helped me understand that I wasn’t to blame,” said Kizzy. “It was important for me to process those emotions so I could focus on supporting Essynce and getting her the care she needed.” 

Essynce was diagnosed with High SS sickle cell disease, the most common and severe form of the condition. In this type, the abnormal hemoglobin S (HbS) makes red blood cells stiff and crescent-shaped instead of round, which can block blood flow and cause painful crises and other health problems. 

Sickle cell disease is inherited in an autosomal recessive pattern. This means a person must inherit two copies of the sickle cell gene—one from each parent—to have the disease. In Essynce's case, both her mother, Kizzy, and her father have the sickle cell trait, which means they each carry one copy of the sickle cell gene but do not have the disease themselves. When two carriers have a child, there is a 25 percent chance the child will inherit two copies of the sickle cell gene and thus develop the disease. 

Essynce’s initial care was managed by a pediatric hematologist at Tulane University, referred by her pediatrician. When her hematologist relocated out of state, Essynce began seeing Justin Farge, MD, a hematologist at Tulane University and the Center for Cancer and Blood Disorders at Children’s Hospital New Orleans.  

For the past four years, Dr. Farge has been an integral part of Essynce’s care team. 

“Dr. Farge and the hematology team are incredible,” Kizzy says. “They keep us well-informed, manage her symptoms with care, and are always there when we need them. I appreciate how they keep Essynce’s well-being at the forefront of their care.” 

Living with sickle cell disease can be incredibly challenging, as the condition often brings unpredictable and intense pain. For Essynce, this means dealing with various symptoms that can strike at any time. Pain crises, often affecting her back, legs, and stomach, can come on suddenly and without warning. 

"It's really painful when it hits,” said Essynce. “But I just try to stay positive and push through it." 

With the help of Dr. Farge and the hematology team, Essynce is able to manage her symptoms. Her pain management includes hydroxyurea, a medication that reduces the frequency of pain crises by increasing fetal hemoglobin production and decreasing the sickling of red blood cells. She takes this medication daily. Additionally, she stays hydrated with plenty of water and sports drinks, like Gatorade, to help reduce the likelihood of sickle cell crises, and Essynce takes pain medications as needed. 

“When Essynce tells me she’s in pain, we start with over-the-counter pain relievers like ibuprofen,” Kizzy explains. “If that doesn’t help, we move on to stronger pain medication prescribed by her doctor. We also use heating pads to ease her discomfort. If she’s still in pain after that, we take her to the hospital." 

Essynce has been hospitalized multiple times for severe pain crises, requiring several blood transfusions. These transfusions help manage her sickle cell disease by increasing healthy red blood cells, reducing pain, and improving oxygen delivery to tissues when her red blood cell levels drop dangerously low during a crisis. 

Dr. Farge emphasizes that managing sickle cell disease requires a comprehensive approach, combining personalized treatment plans, continuous monitoring, and supportive care.  

“Our goal is to address each patient’s unique needs, improving their quality of life and reducing the frequency and severity of pain crises,” said Dr. Farge. “For some patients, a bone marrow transplant may be an option. This involves replacing the patient’s bone marrow with healthy marrow from a donor to enable the production of normal red blood cells. Along with gene therapy, it’s currently the only potential cure for sickle cell disease, but not every patient is an ideal candidate for this procedure. Each patient is different.” 

Despite the challenges of sickle cell disease, Essynce remains optimistic and determined. She is an avid dancer, enjoys running, and is preparing to try out for majorette. Her academic interests include geometry and algebra, and she is driven by her dream of becoming a hematologist. 

“I want to help other kids with sickle cell disease,” said Essynce. “I know how hard it can be, and I want to make sure they have someone who understands what they’re going through. Having sickle cell doesn’t define who I am. I have my family and my dreams, and that’s what keeps me going.” 
 
As part of her follow-up care, Essynce sees Dr. Farge every three months. During each visit, Dr. Farge monitors her blood levels to ensure they remain within a healthy range and checks for any potential complications from sickle cell disease. He also addresses any concerns Essynce or her family may have, adjusting her treatment plan as needed to prevent pain crises and manage her symptoms effectively. 

"God has been our strength throughout this journey, and I always remind Essynce that God made her special,” said Kizzy. “I don’t want her to ever think that having sickle cell means she can't do anything. I do my best to make her life as normal and easy as possible.” 

For more information about the Hematology Program at Children’s Hospital New Orleans visit: 
Hematology & Oncology | Children's Hospital New Orleans (chnola.org)