Rare Disease Report

Team Approach to Diagnosing the Undiagnosed Patient

JUNE 06, 2017
James Radke
A new model to help diagnose and/or care for undiagnosed medical conditions was recently published in Pediatrics by Nageswaran and colleagues. The model explains the value of a team approach in helping these patients. 
While much progress has been made in this regard to create conference calls/meetings for the team of doctors working on a particular disease, the same cannot be said for an undiagnosed patient. In those cases, doctors may not know who to collaborate with in the first place.
The report by Nageswaren et al hopes to change that mindset, and an innovative model based on efforts to care for children with undiagnosed complex medical conditions in a tertiary care children’s hospital was developed. The key to the program’s success was communication and the origins of the program were based on one family’s determination to find a diagnosis.

The Program’s Origins

Declan, a young boy with an undiagnosed condition, had a plethora of medical problems, including fevers, eye scarring, arthritis of the knees, liquid aspiration, lower lobe pneumonia, erratic and nonconclusive blood test results, and unexplained illnesses. He had 10 clinicians of different specialties involved in his care but there was not 1 specific doctor in charge.
When Declan was 2 years old, he was diagnosed with juvenile idiopathic arthritis and treated with prednisone. After 2 days of treatment, he died from overwhelming sepsis, and that could be attributed to the fact that he was never provided a ‘medical quarterback,’ or someone to guide the array of clinicians working with him.
Following his death, Declan was diagnosed with X-linked chronic granulomatous disease. His parents reexamined previous doctors’ reports and were able to identify the missed opportunities to correctly diagnose the condition. They concluded that ‘lack of communication’ between the many care providers led to the failure of a proper diagnosis.
The findings were taken to leaders at the Wake Forest Baptist Health (WFBH) and a system was created to to address these and similar gaps in care. That partnership led to the Declan Donoghue Collaborative Care Program (DDCCP).

The Program

DDCCP is an initiative within the pediatric palliative care and complex care program of Brenner Children’s Hospital (BCH), and staffed by a 0.15 full-time equivalent pediatrician and a 0.5 full-time equivalent nurse, who act as the director and the coordinator, respectively. The hospital provides funding of both personnel for the program.
To be eligible, the child must be receiving care at the hospital, have an undiagnosed clinical condition or unresolved clinical problem, and should need or receive care from 3 or more specialists. Referrals to program can be initiated by the child’s primary care or specialist physician.
The child’s parent or caregiver are then contacted to describe the program, and obtain permission to enroll the child in the program. The coordinator and director create a comprehensive clinical summary and present the case during a meeting of invited clinicians involved in the patient’s care.
Meetings are held after clinic hours on weekdays and last for an estimated 75 minutes. Prior to the meeting, the program director sends the comprehensive clinical summary and questions to be discussed at the meeting to all participants. These discussion questions are generated based on parents’ or referring physicians’ concerns and the review of the child’s summary, and they are used as a guide to facilitate the meeting.
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. This meeting report is communicated with parents, shared with all clinicians involved in the child’s care, and placed in the child’s medical record.
Further communications are maintained until all action items are met and the team is satisfied that the patient is getting appropriate care.


From April 2011 - June 2016, the DDCCP received 66 referrals. Of those, 40 cases were presented to the team [24 boys and 16 girls; median age was 5 years (range 1 month–17 years)]. Within that group, 29 cases were presented to find a diagnosis. Using the program, 21 (72%) of the cases were about to find a diagnosis while 8 (28%) were not. The authors noted that all children without diagnoses remain in the program and are doing well clinically.
Other ways in which the program helped provide care post mortem was that 4 cases were presented to find a diagnose following the death in a child. In 1 of those cases, a diagnosis was obtained and the team were able to implement a treatment plan for other members of the family.
The authors concluded that “Because the care of undiagnosed child is highly fragmented, a clinical team that takes responsibility for coordinating the care, ensuring implementation of all tasks identified in the conference, and maintaining communication with all relevant clinicians is very important to the collaborative model.”
The program, by any measurement, is an incredible success and the authors hope similar programs can be established in other hospitals. As the authors noted, 10% of deaths can possibly be attributed to diagnostic errors. Programs like this one can help to reduce, if not eliminate, those errors.
For more information about the program, visit www.brennerchildrens.org/Enhanced-Care/ or www.declansfoundation.org/


Nageswaran S, Donoghue N,  Mitchell A,  Givner LB. An Innovative Collaborative Model of Care for Undiagnosed Complex Medical Conditions. Pediatrics. 2017;139: pii: e20163373. doi: 10.1542/peds.2016-3373.

Stay informed on the latest rare disease news and developments by signing up for our newsletter.
Copyright © RareDR 2013-2018 Rare Disease Communications. All Rights Reserved.