Australian Study Details Diagnosis Delays for Children With Rare Diseases

Despite the wide variety of rare diseases out there, research shows children and families living with rare disease have one thing in common: they experience diagnostic delays. A new study in Orphanet Journal of Rare Diseases described experiences of seeking and receiving a diagnosis of a rare disease and access to healthcare.

Researchers followed 462 children younger than age 19 in Australia. The children represent approximately 200 different rare diseases, but 29 (7%) actually remained undiagnosed.

“Prompt, correct diagnosis is very important for families, as it enables them to explain their child’s disease to others, to stop blaming themselves for their child’s condition, it may restore reproductive confidence and alleviates some of the stress of not knowing what is wrong and what to expect in the future,” the authors wrote.

Of the 462 children included in the study, 428 had a definitive diagnosis. Among those were 17 children who had more than 1 rare disease. Half of the children diagnosed received their diagnosis after being referred to a specialist clinic in a large metropolitan pediatric hospital. Overall, 42% of families consulted 3 to 5 different doctors, 16% consulted 6 to 10 doctors, and 11% consulted more than 10 doctors before receiving a definitive diagnosis.

The researchers found that the majority (60%) of children were diagnosed within the first 12 months of life, but 8% waited more than 3 years for diagnosis. However, more than one-fourth of children received a wrong diagnosis first. More than one-third of families believed that the diagnosis could have been made earlier.

Respondents cited the following reasons for a delayed diagnosis: lack of knowledge among health professionals (69%), lack of family awareness of symptoms (21%), lack of access to appropriate tests (18%), delays in obtaining test results (11%), and long waiting times to see doctors (10%).

Among the 29 children who had not yet received a diagnosis, the median time they had been waiting for a diagnosis was 6.4 years; however, the age of these children varied widely (2 months to 18 years).

The study also sought to determine how well families were offered support when receiving a diagnosis.

“Receiving a diagnosis of a rare chronic and complex disease for their child is a life-changing event for many families, and more require support at or near the time that diagnosis is made,” the authors wrote.

Slightly less than half (47.5%) of families were offered psychological support around the time of diagnosis. The majority of families (86.2%) believe psychological support should always be offered during this time. And while more than half believe receiving a diagnosis for a child’s rare disease would impact family planning decisions in the future, less than half received genetic counselling after receiving a diagnosis.

“The integration of genomic medicine into the health system, the establishment of multidisciplinary specialist clinics, and clear referral pathways may improve the timeliness and accuracy of diagnosis for children with rare diseases,” the authors concluded. “The ultimate aim should be to improve patient and family experiences, and it is therefore imperative that patients are involved in development and evaluation of such programs.”