Bone Marrow Transplant Saves Alabama Boy with Rare Wiskott-Aldrich Syndrome
核心洞察
A 5-year-old Alabama boy with Wiskott-Aldrich Syndrome (搜索), a rare X-linked genetic condition, met the bone marrow donor who saved his life for the first time.
Genetic testing at Children's of Alabama (搜索) confirmed the diagnosis after the boy presented with low platelet count and nephrotic syndrome (搜索).
The boy underwent chemotherapy followed by a bone marrow transplant at age 3, enduring seven months of hospitalization and severe complications before recovery.
A 5-year-old Alabama boy met the bone marrow donor who saved his life for the first time, marking the culmination of a years-long medical journey that began with subtle symptoms and led to a diagnosis of a rare genetic condition. Dewontis Groomster Jr. and his donor, Carolyn Daniels of Oklahoma, were brought together by Children's of Alabama (搜索), which organized the meeting.
Dewontis Groomster Sr., the boy's father, said he knew something wasn't right when his son was a baby. "He kept getting bruises and not acting like normal," Groomster Sr. said. "We kept going to the hospital in Montgomery. They kept saying he was fine, but he started having discoloration, so we got sent up to Birmingham."
Diagnosis of Wiskott-Aldrich Syndrome
For the first two years of Dewontis' life, the family went from doctor to doctor and diagnosis to diagnosis, according to Children's of Alabama (搜索). The hospital began evaluating the cause of the boy's low platelet count before having to admit him for nephrotic syndrome (搜索), a kidney condition that causes excessive protein loss in the urine and severe swelling.
That prompted the medical team to expand the diagnostic workup. Genetic testing found the cause of his symptoms: Wiskott-Aldrich Syndrome (搜索) (WAS).
Wiskott-Aldrich Syndrome (搜索) is a rare genetic condition that affects the function of a child's immune system, according to the Cleveland Clinic. It can cause issues with blood clotting, leading to excessive bleeding; frequent infections through its impact on white blood cells; and eczema. Medical officials said it's linked to the X chromosome and primarily affects boys and men. An estimated three per million men are diagnosed with Wiskott-Aldrich Syndrome, equaling less than 5,000 people in the U.S.
Because Wiskott-Aldrich Syndrome (搜索) is present at birth, it's often diagnosed in infancy or early childhood after symptoms begin to appear, according to Children's of Alabama (搜索). Once Dewontis' diagnosis was confirmed, he was referred to a doctor and pediatric blood and marrow transplant team at Children's of Alabama to discuss the next step.
Transplant and Complications
By the time Dewontis was 3 years old, doctors determined a bone marrow transplant offered his best chance at a healthy future, according to Children's of Alabama (搜索). Before the transplant, he underwent chemotherapy to wipe out his existing bone marrow and immune system.
The transplant brought a series of unexpected complications. "His body went crazy with it," Groomster Sr. said. "His tongue swelled so severely that he lost the ability to speak. He didn't talk for about six months because of it."
The swelling made it impossible for Dewontis to eat normally. Doctors inserted a feeding tube, and there were concerns his airway could become compromised. For months, father and son lived inside the hospital. Dewontis spent seven months at Children's Hospital in all. Children's of Alabama (搜索) said that one morning, the swelling subsided and he began to recover. He now spends his days playing football and basketball.
Meeting the Donor
Dewontis had never met the person who donated the bone marrow used to help him survive. His donor, Carolyn Daniels, is from Oklahoma. "It feels amazing," Daniels told WBRC. "I know I've never met him before today, but... I feel like I know him." Daniels said she would make the choice again to be a donor.
The Importance of the Donor Registry
September is Childhood Cancer and Sickle Cell Awareness Month. According to Children's of Alabama (搜索), 18,000 patients are diagnosed every year with life-threatening blood cancers or other diseases for which a blood stem cell transplant may be their best hope for a cure.