First to be cured of sickle cell disease, Kimberlin relishes the joy of each day

On quiet afternoons, when she’s singing to the baby granddaughter in her arms, Kimberlin doesn’t feel like part of medical history. She feels like a proud grandmother holding a gift. It is a gift she was not sure she’d live long enough to have.

In 1983, when she was 8 years old, something remarkable happened to Kimberlin. A bone marrow transplant, which doctors at St. Jude Children’s Research Hospital had intended to treat her acute myeloid leukemia, cured not only the cancer, but her sickle cell disease as well. 

Since then, Kimberlin has been known as the first person in the world to be cured of sickle cell disease, the most common inherited blood disorder in the United States, affecting about 100,000 Americans and millions more worldwide. 

The debilitating condition warps normally round red blood cells into crescent-shaped brittle ones that have trouble moving through blood vessels, disrupting the critical delivery of oxygen to tissues and organs. Sickle cell disease often leads to pain crises, organ damage and higher risk of stroke and heart disease.

According to the CDC, sickle cell disease is most common among people with ancestors from sub-Saharan Africa, South America, the Caribbean, Central America, Saudi Arabia, India, and Mediterranean countries such as Turkey, Greece, and Italy. In the United States, it predominantly impacts those of African descent, with about one out of 365 African American babies afflicted.

“People ask me if I feel like a hero,” Kimberlin said. “But on most days, I don’t think of myself as one. I just live every day to the fullest with gratitude and faith.”

Cancer, sickle cell and answered prayers

Kimberlin was diagnosed with sickle cell disease when she was 2 years old. She remembers suffering from pain crises nearly every other week throughout her early childhood. She remembers writhing and crying as her arms and legs experienced “excruciating unbearable pain,” she said.   

“My parents and grandmother prayed and took turns rubbing my arms and legs,” Kimberlin recalls. And when the pain got too bad for the Baton Rouge, Louisiana native, they would seek help from the local emergency room.

“The nurses at Our Lady of The Lake Hospital knew me well,” she said.

She missed school and playtime with friends.

“Up to that point, life for me was filled with lots of pain and hospital stays,” she said.

But then at 8 years old, Kimberlin endured a particularly difficult pain crisis, one that felt different from the others and brought with it a level of fatigue and weakness she had not experienced before.

When her parents took her to the local hospital to manage the pain this time, the doctors and scans found something else that was contributing to her anguish: acute myeloid leukemia.

That’s when she was referred to St. Jude Children’s Research Hospital.

In addition to a protocol of chemotherapy and radiation therapy, doctors at St. Jude also determined she could benefit from a bone marrow transplant. The transplant would help the body replace blood-forming cells killed off by chemotherapy with healthy ones to rejuvenate the bone marrow. And as good fortune would have it, Kimberlin’s brother Shongo was a bone marrow match. 

After the transplant, doctors were pleased to see that it not only cured the cancer in her blood, but also the sickle cell disease. 

“I just remember my parents and grandmother saying it was like their prayers had been answered. It felt like a miracle,” Kimberlin said.

New Era of Hope

Even now, 41 years after Kimberlin’s procedure, bone marrow transplant remains the primary cure for sickle cell disease. But its use is limited because of the challenge in finding a matched donor — barely 20 percent of sickle cell patients find an eligible bone marrow match. 

And even when matches are found, the health complications that are associated with the conditioning process that prepares the patient for transplant, as well as the procedure itself, can be difficult and sometimes even life threatening.

That’s why doctors and scientists at St. Jude continue looking for ways to refine the process to cure more patients while causing less toxic side effects. 

The hope is to someday provide all patients with what Kimberlin experienced: a cure for sickle cell disease.

One such effort is the ongoing Sickle Cell Disease Hematopoietic Cell Transplantation (SCDHCT) study at St. Jude, led by Akshay Sharma, MBBS., MSc., designed to answer the question: What if researchers can find a way to cure children of their severe sickle cell disease with a transplant while using a gentler chemotherapy and radiation conditioning regimen than standard transplants? With this goal, the clinical trial is studying the results for patients under age 25 who have severe sickle cell disease. 

This clinical trial includes enrolled patients under age 25, who, like Kimberlin, have fully matched sibling donors, as well as and those who have half-matched, or haploidentical, donors. The latter option increases the odds of finding a suitable donor as one’s parents are always a haploidentical match.

Ongoing research like the SCDHCT trial and other efforts underway at St. Jude aim to cure more children, like Kimberlin, with fewer complications.

When Sharma saw patients being treated on SCDHCT clinical trial go on to lead 'normal' lives, he said, “It’s very fulfilling as a physician and researcher to see that our trial is helping kids get back to being kids again. They are my inspiration.” 

St. Jude is also at the forefront of another effort to explore multiple approaches to treat and potentially cure sickle cell disease using gene therapy. Gene therapy treatments, including two that were recently approved by the U.S. Food and Drug Administration for use in patients 12 and older, appear to hold the potential to cure sickle cell disease for even more patients. 

In addition to ongoing laboratory research on multiple different approaches to using gene therapy for sickle cell disease, St. Jude will soon launch its own gene therapy clinical trial for sickle cell patients who do not have a matched donor. Because gene therapy does not require a donor, this next frontier in sickle cell disease treatment is hoped to be a one-time treatment and cure for individuals with sickle cell disease.

Kimberlin may have been the first to be cured of sickle cell disease, but St. Jude is working to make sure more children will not only be treated for but cured of this disease, and experience fewer complications in the process.  

Kimberlin Today

Kimberlin returned to St. Jude for checkups after the bone marrow transplant in 1983, at first a couple of times a year and then annually until she was 18 years old. 

“St. Jude just teaches you to be strong, determined,” Kimberlin said. “Every minute you are there, every day, you see people working hard to help you.”

She was able to claim the kind of normalcy she didn’t have in early childhood.

She went to high school, graduated and went to college in Louisiana and earned a degree in child development. She taught first grade for a bit and later ran a childcare center for more than 11 years.     

Kimberlin, who lives in Texas now, has been happily married for over 19 years, has three children ages 22 to 14, and until recently, was a beloved middle school registrar.

“I’ve had the joy of having an amazing partner, being a mother, helping children, which makes me so happy, and now being a grandmother, and none of it could have happened without St. Jude,” Kimberlin said. “That’s the simple truth. I love St. Jude.”