Charlotte's Story
On December 1st, 2023 our world shifted. Our sweet daughter, Charlotte Grace, had just turned 8 weeks old. Over the course of a week, we noticed Charlotte began to eat less, seemed to fatigue easily and looked pale. We were sent to the emergency room for a work up. We went through several tests and a roller coaster of emotions to find out her hemoglobin was critically low (2.9). She received two blood transfusions while in the hospital and we were sent home with no definitive answers. We did know it was a blood disorder of some sort and thankfully she was established as a St. Jude’s patient. Many doctor visits, comprehensive genetic testing, and two more blood transfusions later, we received her diagnosis on January 11, 2024. A day we will never forget and a day that forever changed her and our lives.
Charlotte currently requires blood transfusions every ~3 weeks and is monitored closely by the amazing team at the St. Jude Affiliate Clinic.
Charlotte has proven to be a fighter from day one. For those of you who do not know, Chuck and I suffered three miscarriages. Charlotte is the tough little fighter that made it safely into our arms. We believe she will continue to show us her strength and will fight every single day. She will never fight this fight alone. She is blessed with the most amazing support system - the best family, friends and medical team. We don’t quite understand why this is our story, but we do know that Charlotte is going to make a big difference in this world.
Our primary goal is to support Charlotte and help her brave this scary diagnosis. We want to make sure she lives the most normal, exciting and long life. We are committed to raising awareness, to do what we can to advance research, and ultimately find a cure for DBA.
What is Diamond Blackfan Anemia (DBA)?
Diamond-Blackfan Anemia (DBA) is a rare blood disorder in which the bone marrow does not produce enough red blood cells, leading to severe and potentially life-threatening anemia.
DBA affects approximately 5–7 newborns per 1 million worldwide and occurs equally in both boys and girls. It most commonly develops within the first year of life, though it can present at any age.
In many cases, DBA is caused by a genetic mutation that can be passed from parent to child. If a parent carries the mutation, there is a 50% chance it will be passed on to their children. However, in at least one-third of cases, the mutation is not inherited. In Charlotte’s case, she has a de novo mutation, meaning it occurred spontaneously and was not inherited from either parent. Charlotte’s baby brother, Wells, has tested negative for DBA, further confirming that Charlotte’s mutation was de novo.
About half of individuals with DBA are born with physical differences, which may include abnormalities of the face, heart, or kidneys. Some may also experience shorter stature compared to peers or siblings without DBA. Additionally, individuals with DBA have a higher risk of developing certain cancers at a younger age than the general population.
Current Treatments for DBA
- Blood transfusions (usually required every 3-6 weeks depending on the individual's needs)
- Long-term corticosteroid therapy to help stimulate red blood cell production in the bone marrow
- Stem cell transplant (only used if transfusion dependent or lack of response to steroids)
Children with DBA require lifelong care to manage symptoms, administer therapies, or monitor a child’s health following a bone marrow transplant.
New methods are continually being discovered to improve treatment and decrease side effects of established therapies.