Caring for Kids with Rare Diseases

Children with rare, neurogenetic conditions that affect the development and function of their nervous system see Jullie Rhee, MSN, CPNP-AC, throughout their healthcare journey. As nurse practitioner team lead in Neurology, she works across disciplines to deliver specialized care to these patients. All face shortened lifespans and hope for a cure.

 

“I work closely with many who are unable to speak or advocate for themselves,” says Rhee. “This is due to cognitive impairment or because their condition has progressed so far. Building lasting relationships with children and their families, especially those who come to receive treatment every two weeks, is so rewarding. I get to build connections with these families and provide continuity of care. Frequent visits allow them to have their own specialized team with nurses and staff who know the child and how to handle specific aspects of their care — from the equipment they need to best positions for their procedures to ensure success.”

 

Rhee joined Children’s National 18 years ago as a Neonatal Intensive Care Unit (NICU) nurse. Today, in her leadership role, she supports advanced care providers in both clinical and research practice and leads a team of 10. 

 

In our Leukodystrophy and Myelin Disorders Program, also known as the White Matter Clinic, Rhee ensures that every patient receives the care they need with the specialists within the program. She then coordinates after-visit care, helping with forms, letters and phone calls to pediatricians, local providers, other care team members and schools. 

 

In the operating room and radiology suite, she handles spinal taps to diagnose patients or administer medication for conditions like Spinal Muscular Atrophy. Kids with inherited metabolic disorders like Niemann-Pick disease and Dravet Syndrome are receiving a new treatment as part of a study in the rapidly evolving field of rare disease research.

 

“It is challenging work but really rewarding to see how far treatment has come during the last 10 years,” Rhee says. “Children who did not have the opportunity to receive or be considered for treatment can now access it. We might not be able to provide a cure for all, but being involved in this innovative research allows me to be a part of patients’ journeys, and that is special.”