This episode features Brittany Holmes who is a nurse practitioner in the Metabolism Program in the Genetics & Genomics division at Boston Children’s Hospital. She is an experienced provider who specializes in caring for patients with inborn errors of metabolism. She serves on the Board of Directors for the National PKU Alliance, the Newborn Screening Translational Research Network (NBSTRN) Steering Committee, and the Rare Disease Clinical Research Network (RDCRN) PHEEFREE Consortium External Advisory Board.

She received her Bachelor of Science at Merrimack College, and Master of Science in Nursing from Simmons University in Boston, and is beginning the Doctor of Nursing Practice program at UMass Boston this September. In addition to expanding expertise in the clinical care and research for those with a variety of inborn errors of metabolism, she also has a particular interest in Phenylketonuria (PKU) and newborn screening. Her interest in working with inborn errors of metabolism began at a young age, due to her personal experience as a patient with PKU. After years of speaking at conferences from the patient perspective and receiving care from leading clinicians/researchers in metabolism from the patient side, this ultimately led to seeking a career as a healthcare professional in the specialty. She enjoys being able to offer both the provider and patient perspective, and has a passion for caring for patients in this specialty.

Interview Questions:

1. Could you tell our listeners how you got involved in newborn screening?
2. May is the PKU awareness month. What is the purpose of this rare disease awareness campaign. How can our listeners get involved this month?
3. In the year 2023, it is the 60th anniversary of the newborn screening, and PKU was the first condition to be screened in newborns in 1951. A PKU screening test is a blood test given to newborns one to three days after birth. If babies are identified with PKU, they can benefit from early treatment. However, in the year 2013, there was a study that indicated that there is individual patient, social, and economic factors prevent some adult PKU patients in the US from accessing treatment. Ten years later, do you see any changes?
4. There is a policy in development or in place to address this such as The Medical Nutrition Equity Act (MNEA). Can you tell us listener about this policy?
5. In addition to medical nutrition therapy for PKU patients, what are other new types of treatment and gene therapy for PKU patients? Could you share the latest research effort and clinical trial in this area?
6. You are on the Rare Disease Clinical Research Network (RDCRN) PHEEFREE Consortium External Advisory Board. What is the mission and activities of this network? What resources are available to patients and families with rare disease?
7. Could you share your process for proving medical care to patients with PKU? As an adult with PKU, any advice for new parents who just received a newborn screening positive result for PKU?
8. What do you think prospective parents should know about newborn screening research in screening, diagnosis, and treatment for PKU?
9. You are currently on the Steering Committee at NBSTRN, what efforts do you see NBSTRN can support in NBS Research and your efforts?
10. What does NBS research mean to you?