Charlotte's Story
Charlotte was born on October 5, 2023, and from the very beginning, she was our little miracle. Being a rainbow baby, we knew she was a fighter before we ever understood just how strong she would need to be.
At just 8 weeks old, our world shifted dramatically. Over the course of a week, Charlotte began eating less, seemed to be fatigued, developed gastrointestinal issues, and became noticeably pale. Trusting our instincts, we brought her to her pediatrician who very quickly referred us to the pediatric emergency room, where testing revealed her hemoglobin level was critically low at 2.9 — one of the lowest the emergency physician had ever seen. Charlotte immediately required two life-saving blood transfusions, followed by countless tests and procedures. After several difficult days in the hospital, we were sent home with few answers, but one important connection: Charlotte became a patient of St. Jude — a blessing that continues to guide her care today.
On January 11, 2024, after months of appointments, genetic testing, and additional transfusions, Charlotte was diagnosed with Diamond Blackfan Anemia (DBA), a rare and life-threatening blood disorder where the bone marrow fails to produce red blood cells. It was a day that forever changed our family’s life. Since her diagnosis, Charlotte has required blood transfusions every three weeks. By October 2026, at just 3 years old, she has endured 46 transfusions and takes multiple daily medications. In hopes of stimulating her bone marrow to produce red blood cells on her own, Charlotte underwent a steroid treatment trial shortly after her first birthday. Unfortunately, the treatment was unsuccessful. A second, and final, steroid trial in early 2026 also failed to produce a response. So, for now, Charlotte will continue to be transfusion dependent, which requires diligent chelation therapy to manage her severe iron overload, along with other supplemental medications.
Today, Charlotte is cared for by an incredible team at Novant’s St. Jude affiliate clinic, alongside specialists at St. Jude Children’s Research Hospital in Memphis. While there have been promising advances in gene therapy research for DBA, those treatments remain in clinical trials, with even the most optimistic timelines estimated at 5–7 years away — and potentially longer. Because of this, gene therapy is unlikely to align with Charlotte’s treatment timeline. At this time, bone marrow transplant continues to offer the best long-term outcome for children with DBA, particularly when performed before the age of 10. Although it is a path that comes with significant risks and difficult decisions, we plan to pursue this option to give Charlotte the greatest possible chance at recovery and, hopefully, a more normal life afterward.
Through every challenge, we continue to choose hope. Our goal is simple: to give Charlotte the fullest, happiest, and longest life possible. We are committed to raising awareness for DBA and supporting the research that advances better treatments, therapies, and ultimately a cure. We also proudly support the American Red Cross and encourage blood donation whenever possible — because children like Charlotte depend on the gift of blood to survive.
We are deeply grateful for the brilliant and passionate doctors, researchers, and medical teams around the world who dedicate their lives to studying and treating such a rare disorder. We are also proud to contribute to this important work through Charlie’s Hope and want to sincerely thank our family, friends, and community whose love and support continue to carry us through this journey.
What is Diamond Blackfan Anemia (DBA)?
Diamond-Blackfan Anemia (DBA) is a rare genetic blood disorder that prevents the bone marrow from producing enough red blood cells—the cells that carry oxygen throughout the body. This can cause severe, potentially life-threatening anemia.
DBA affects approximately 5–7 out of every 1 million newborns worldwide, with boys and girls affected equally. It is usually diagnosed within the first year of life, although some people are diagnosed later.
DBA can be inherited or result from a new genetic change, called a de novo mutation. In its most common inheritance pattern, a parent with a DBA-causing mutation has a 50% chance of passing that mutation to each child. However, many cases occur without a family history of the disorder.
Charlotte’s DBA is caused by a de novo mutation, meaning the genetic change occurred spontaneously and was not inherited from either parent. Her baby brother, Wells, has tested negative for DBA.
DBA can affect more than blood cell production. Approximately half of those affected are born with physical differences involving the face, hands, heart, or kidneys, and some experience slower growth or shorter stature. People with DBA also have an increased risk of certain cancers, which may occur at younger ages than in the general population.
Current Treatments for DBA
- Blood transfusions: Usually needed every 3–6 weeks, depending on the individual’s needs.
- Corticosteroid therapy: Used to help stimulate red blood cell production in the bone marrow. However, not all patients with DBA respond to steroids, and long-term use can cause significant side effects.
- Bone marrow transplant: A potential cure for the blood-related symptoms of DBA.
Children with DBA need lifelong care to manage the condition, monitor treatment side effects, and support their health—even after a successful bone marrow transplant.
Researchers continue to explore new treatments and ways to improve existing therapies, with the goal of reducing side effects and improving quality of life.
Did you know?
The official symbol of the rare disease community is the Zebra. It comes from the medical adage “when you hear hoofbeats, think horses, not zebras” . . . but sometimes, it really is a zebra!