Families of children with rare disease, especially undiagnosed illnesses, often wait years for answers. For Nicole Donoghue, a mom in North Carolina, the task of coordinating diagnostic efforts among the 10 specialists serving her young son ultimately fell in her lap. This meant the burden of piecing it all together fell to her. In her own words:
What I really needed was a medical quarterback helping me navigate all the results, the assumptions, and our options. But my son did not have a medical quarterback; he had a tenacious mom unwilling to let her son’s ailments go unanswered. But we ran out of time.
Collaborative care model for undiagnosed children with medical complexity
Nicole's son, Declan, was posthumously diagnosed with X-linked chronic granulomatous disease, a rare genetic disease. With her husband, Nicole reviewed their communications with Declan’s doctors and located where their diagnosis efforts suffered from a lack of communication among his care team.
This led to the creation of the Declan Donoghue Collaborative Care Program (DDCCP) at Wake Forest Baptist Health in April 2011. Led by Dr. Savithri Nageswaran, this collaborative care model is designed to reduce morbidity and mortality in undiagnosed children with medical complexity:
- First, the DDCCP program coordinator summarizes all medical information into a comprehensive clinical summary (PCP, specialists, ED, hospitalizations, labs, procedures, parents' concerns about child’s condition, goals for child, current medications, family history.)
- Next, all clinicians involved in the child's care are invited to a 75-minute, in-person or phone meeting, after clinic hours on weekdays. The summary and related questions for all are shared in advance of the meeting.
- All ideas generated in the meeting are captured in a detailed written report, including the rationale for excluding or including diagnoses.
- A plan is developed with clearly identified action items including additional tests to be done, specialist opinions to be sought, communication plans, and the person responsible for each action item.
- The DDCCP team implements the plan and oversees the child’s care until a diagnosis is made and all issues are resolved. The coordinator maintains ongoing engagement with parents by keeping them informed, addressing their concerns, and serving as a liaison between them and the clinicians involved.