KATIE DELONG
CAPSTONE
Capstone Project Committee: Kristin Clinar, M.S., CGC; Cynthia Powell, M.D.; Randi Stewart, M.S., CGC
Newborn screening (NBS) aims to preventing death and disability through early detection, diagnosis, and intervention of a variety of conditions. However, receiving a positive screening result can be stressful and confusing for parents. Mucopolysaccharidosis type I (MPS I) has been added to the list of recommended conditions to be screened for in the United States. In order to improve parent support and inform recommendations for delivering abnormal NBS results for MPSI, parents of children who screened positive for MPS I on NBS were interviewed to explore their experiences with the follow-up process. Recruitment occurred via the North Carolina MPSI Pilot Study and National MPS Society. Seven parents were interviewed including two whose children received a true diagnosis of MPSI. Two authors utilized qualitative computer assisted analysis to code transcribed interviews. Themes were identified and organized into domains of follow-up process, knowledge and education, psychosocial impact and recommendations for follow-up. Results showed that parents did not recall being informed about NBS prior to the birth of their child and desired additional information about the NBS process in order to prepare for a positive screening result. Parents’ perceived that pediatricians lacked knowledge about MPS I, which caused anxiety and confusion for parents. Despite this, parents still reported satisfaction with the disclosing provider. Study participants preferred disclosure of positive NBS results from their pediatrician but desired more effective education regarding NBS for themselves and for disclosing providers and expediting steps in the follow up process in order to minimize negative emotions experience by parents.
Since Graduation
Following graduation, Katie moved to coastal North Carolina and began working for a remote genetic counseling company named GeneScreen. She provided telemedicine genetic counseling services in preconception, prenatal, and hereditary cancer to patients across the country. After moving to San Diego with her family in 2019 she took a job to work in-person at Rady Children’s Hospital as a pediatric genetic counselor. She really missed being at an in-person clinic, only to go back to working remote due to COVID. It’s safe to say Scout and Bella, Katie’s dogs, have really enjoyed her working from home again this year. Katie works independently seeing patients in general genetics and also sees patients with cystic fibrosis and new diagnoses of Down syndrome. However, her biggest role is working as the first genetic counselor in the metabolic clinic at Rady Children’s. On a personal note, Katie and her husband welcomed a baby girl named Emma to their family this August. She has enjoyed exploring the west coast with her family and hopes to take baby Emma on many more adventures while they are still living in California.