When Denae was diagnosed with sickle cell disease more than 30 years ago, pioneering efforts at Cincinnati Children’s, including daily penicillin therapy, helped her live a more normal life. She felt so comfortable at Cincinnati Children’s and passionate about the care she received that she became a nurse practitioner, caring for patients in the same city where she was treated.
That also meant when Denae’s daughter, Mariam, now 6, was diagnosed with sickle cell disease at birth, Denae knew exactly where they needed to be.
“When we got the call, there was initial devastation,” Denae said. “Even though I feel I had a good life, you still don’t want your kid to have to go through any type of pain. And then shortly after getting that diagnosis, we had that first visit when she was about two months old. And those concerns just melted away. I felt so hopeful and encouraged and that she's going to be okay.”
With continued care at the Cincinnati Children’s Cancer and Blood Diseases Institute and Sickle Cell Center, these two generations of patients are benefiting from advancing research into combating this painful disease—with amazing results.
“Mariam displays nothing but strength,” Shawn, Mariam’s father, said. “And it might sound biased, but I just think that she is an angel. And she brightens the room. She engages people, especially her big sister, Malia, and her little brother, Mason. You almost forget she has sickle cell disease.”
Sickle cell disease is a life-threatening condition present at birth. While normal blood cells are circular and flow freely through your vessels, blood cells in patients with sickle cell disease turn into a stiff, sticky shape that can get stuck in blood vessels. These blockages lead to pain and organ damage in the brain, kidneys, lungs, heart and elsewhere that gets worse over time. Patients can quickly experience fatigue and tend to be sensitive to temperature, stress and activity. The disease also leads to painful crises that can strike at any moment.
“You could be fine one day and then the next, you’re having the most severe pain you could possibly imagine,” Denae said.
When Denae was born, doctors did not do the newborn screening for sickle cell that Mariam received, which is now a standard of care. Her family didn’t find out her diagnosis until Denae was about six months old and she had her first crisis.
Denae started on daily penicillin therapy but was in and out of the hospital frequently with pneumonia infections and, when she was seven, a stroke. At that point, her care team placed her on chronic transfusion therapy that took her to Cincinnati Children’s every four weeks. Being at the hospital so much gave her a love of healthcare that inspired her to become a nurse.
“Despite being in the hospital, I still will say that I had a normal childhood,” Denae said. “I did everything that I wanted to, and I really didn’t have many restrictions. I have sickle cell. That’s what I have. It’s not who I am. It’s something we have to deal with as a family. Mariam is going to be okay. I’m excited to just keep watching her grow and be who she is and develop into who she’s going to be.”
Mariam’s journey with sickle cell disease has been quite different from her mom’s—most notably she has not experienced a crisis in her five years. That outcome is possible because of hydroxyurea, a drug used to treat sickle cell disease and some other conditions. Cincinnati Children’s has been a leader in starting this therapy very early in life to try to prevent sickle cell complications before they happen. Mariam began this medication regimen when she was just six months old.
Mariam doesn’t mind taking the medicine because, in her words, “it tastes like cherry.”
Hydroxyurea therapy increases fetal hemoglobin, a protein that prevents sickle cell hemoglobin from clumping but that naturally stops being produced during the first year of life.
“The older that you are and the less well you’ve been treated over time, the more sick you become and the more complications you experience,” said Charles Quinn, MD, medical director of the Pediatric Sickle Cell Program at Cincinnati Children’s. “It’s one of the reasons we recommend starting hydroxyurea so early.”
Hydroxyurea has been a game changer for patients like Mariam because it can almost eliminate the effects and symptoms of sickle cell disease.
“We have made great strides and pioneering discoveries in sickle cell disease that have really helped our patients and changed their outcomes,” said Punam Malik, MD, director of the Sickle Cell Center. “We are one of few hospitals where more than 90% of our patients have been on hydroxyurea since a young age. It’s actually hard for us to study new therapies because our patients are doing so well.”
These longstanding treatments—and their positive outcomes—give patients and families special confidence in their care teams.
“Since we see kids from birth, we develop relationships with the family, and the family gets to know us,” Dr. Quinn said. “We’re always available. They know that they can call us, and we can mobilize the services and the resources that we have for them.”
Sickle cell research at Cincinnati Children’s has its roots in the center’s early days, when leading physicians advocated for the use of penicillin prophylaxis which greatly improved the survival of patients, including Denae.
More recently, Cincinnati Children’s researchers developed gene therapy for sickle cell disease, a novel cure that harvests stem cells from the patient's bone marrow and genetically engineers them to produce fetal hemoglobin. While bone marrow transplant has been an option to cure sickle cell disease, it is only available to a small number of children who have a matched donor.
“Every patient is their own donor because we fix the patient’s own bone marrow stem cells,” Dr. Malik said. “That means every patient with sickle cell has this option.”
This treatment could be administered once and last a lifetime, eliminating the need for daily hydroxyurea. Two of these genetic therapies have now received U.S. Food and Drug Administration (FDA) approval for the treatment of sickle cell disease.
This research ultimately comes to the bedside for the benefit of patients like Denae and, decades later, Mariam, empowering them to live pain-free.
“I hope the best thing that we’ve been able to give to Mariam is a normal childhood,” Dr. Quinn said. “She hasn’t had severe pain or complications from her sickle cell disease. She’s going to school. She’s growing and developing well. It’s the things that she’s avoided that are helping her stay healthy.”
For Denae, it comes back to the support she and her family have received for more than 30 years.
“When I think about why we are at Cincinnati Children’s it’s because I think is the best place for her to be,” Denae said. “I know that they’re just a call away. I’m going to speak to someone that day, and I think that that level of care isn’t always common, but it’s common for us. People travel all over just to come to a hospital that we literally have right in our neighborhood.”
For Mariam, the benefit is much simpler: “They made me feel better. And I get to go home.”
(Published March 2025)
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