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Treating Generations of Rare: Diamond-Blackfan Anemia

Published on Oct. 23, 2020


“She’s the family comedian – she can turn your frown upside down so fast,” says Victoria James about her 1-year-old daughter, Emoryi.

With her high spirits and positive attitude, one might not even know that Emoryi has a rare blood disorder. Emoryi received the diagnosis of Diamond-Blackfan anemia at just weeks old. This diagnosis means that Emoryi’s body doesn’t produce enough red blood cells, as many of the blood cells she does produce die before they develop, leading to necessary specialty care and frequent blood transfusions.

However, Emoryi’s mother, Victoria is no stranger to this diagnosis and treatment routine, as she was also diagnosed with Diamond-Blackfan anemia at just 6-months old and was also treated at Valley Children’s.

“It feels good knowing the nurses I grew up with are still here,” says Victoria. “It’s amazing how well these doctors know what they’re doing and it’s a comfort to know this team is here 24/7 for you, whether you have questions or not.”

Terea Giannetta, hematology nurse practitioner, treated Victoria as a pediatric patient and knows the concern parents might have when it comes to a rare blood disorder.

“Genetics are much better now than when Victoria was a patient,” says Terea Giannetta, chief nurse practitioner. “So we did some genetic studies on Emoryi here at our genetics center, and then received approval to do the study on Victoria. We discovered they both carry the gene that has been known to cause Diamond-Blackfan anemia.”

Terea goes on to explain that while gene identification is still very new, the hematology and genetics teams at Valley Children’s recognized the importance of it in the case of Emoryi and Victoria. While it is typically very hard to identify such a rare disorder in newborns, identifying the gene helped confirm Emoryi’s diagnosis.

“Because this diagnosis is so rare, if it isn’t recognized, it can be life threatening,” adds Terea, “If the patient doesn’t get transfused correctly as an infant, it can damage their physical and mental growth and inhibit their longevity all together. It’s so important that these patients are seen at a qualified center where people educate the parents and even other providers, because Diamond-Blackfan anemia is so rare, patients can have great providers who have still never had experience with this disorder.”

Expert care is of the highest priority for Emoryi’s parents, Victoria and Kenneth Williams, Jr. After receiving Emoryi’s diagnosis, they knew instantly that at Valley Children’s they would have the best care and most compassionate staff who would welcome Emoryi and her parents to each appointment with smiles.

“I have to admit, I’ve never liked hospitals,” Kenneth shared. “But honestly, after working with Valley Children’s, it changed my whole perspective [on healthcare]. After coming here, even just the first time, each and every doctor and nurse has changed my perspective of how a doctor is supposed to act…they treat me with nothing by kindness.”

Victoria explained why she is more than happy to come back every month to Valley Children’s, “When it comes to my daughter’s well-being and livelihood, especially when it comes to such a rare disorder - there’s no other option in my mind.”