From the Rare Disease Report
A study published in Orphanet Journal of Rare Disorders shows that many parents are not content with the support they receive following a rare disease diagnosis of their children. Furthermore, delayed diagnoses are a common and major stressor for these families.
The study asked families of 492 children with rare diseases about their experience in the health care system in Australia and the results were quite surprising. Even with children, often thought to be easy to diagnose, delays in diagnosis were common. In children aged 0-4 (n=126), perceived delays in diagnosis were reported by 58.7% of parents. Similar percentages were seen with children 5-12 years of age (n=135; 55.5% perceived delayed diagnosis) and 13-18 years of age (n=98; 54.1% perceived delayed diagnosis).
And those delays involved a lot of doctor appointments. Before receiving the correct diagnosis, 38% of the families consulted 6 or more different doctors.
The delays also created a lot of frustration and stress. Of the 157 respondents who believed that the diagnosis was delayed, 64 provided comments about the consequences for their families. Anxiety, frustration and stress were the most common consequences (54.7%) of a delayed diagnosis. This was followed by worsening of symptoms and disease progression (37.5%), delays in treatment or early intervention (25.0%), use of inappropriate treatments (10.9%), additional medical costs (9.4%) and other consequences including impacts on family relationships and siblings (18.8%).
On the plus side, psychological support was offered to 47.5% of families around the time of diagnosis, either by a social worker (46.8%), a genetic counsellor (45.3%), and/or a specialist (27.9%). Most respondents (86.2%) believed psychological support should always be offered to families at the time of diagnosis.
Table: Rare Disease Categories of Families Followed in Study
| Disease Category | % |
| Inborn errors of metabolism Genetic syndrome Chromosomal disorder Congenital malformation syndromes Neuromuscular disorder Gastrointestinal disorder Epilepsy syndrome Cardiac disorder Chromosomal disorder Neurodegenerative disorder Immune disorder Skeletal dysplasia Dermatological disorder Renal disorder Other Undiagnosed |
38 13 11 6 5 2 2 1 1 1 1 1 1 1 8 6 |
The most common rare disease type was inborn errors of metabolism. Among that group, 30% (46 / 152) believed their diagnosis was delayed. Surprisingly, families with a rare neurological disorder had the highest percentage of perceived diagnostic delays with 70.6% (12 / 17). As for the 29 children without a diagnosis, at the time of completing the survey, these children had already waited a median of 6.4 years for a diagnosis with 41.4% of these families seeing 3 – 5 different doctors, 24.1% seeing 6 – 10 different doctors and 11.1% seeing more than 10 doctors.
Table: Who Makes the Diagnosis (top 10)?
| Who first suspected diagnosis? |
% | Who made the final diagnosis? |
% |
| Pediatrician Geneticist Neurologist Testing/newborn screening Nurse General practitioner Obstetrician Parent Neonatologist Team of specialists |
26.6 19.4 10.0 5.6 4.7 4.2 4.0 4.9 2.1 2.1 |
Geneticist Pediatrician Neurologist Metabolic specialist Team of specialists Cardiologist Gastroenterologist General Practitioner Neonatologist Nephrologist |
45.3 17.3 12.6 4.2 2.6 1.9 1.2 0.9 0.9 0.9 |
Discussion
In agreement with previous studies, parents reported that delayed diagnosis had significant impacts on themselves and their family, including:
- anxiety, frustration and stress
- worsening symptoms or disease progression
- delays in treatment or early intervention
- use of inappropriate treatments.
The authors noted that the most common perceived reasons for delayed diagnosis reported by parents was the lack of knowledge among health professionals.
Reference
Zuarynski Y, Deverell M, Dalkeith T, et al. Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays. Orphanet J Rare Dis. 2017;12:68. DOI: 10.1186/s13023-017-0622-4
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