Caregiving burden clear to parents of children with rare diseases
Difficulties noted in Irish survey range from financial to quality of care
Parents of children living with rare diseases reported a range of unmet needs across multiple areas in a recent survey conducted in Ireland, though the degree of burden felt by families varied.
Challenges included difficulties in understanding the disease and working with healthcare professionals, dealing with emotions like anger and grief, and financial struggles.
“These insights align with existing literature and emphasize the urgent need for targeted, tailored interventions to improve outcomes for families navigating the complexities of rare diseases,” the scientists, whose study was based on survey findings, wrote.
The study, “Assessing the supportive care needs of parents of children with rare diseases in Ireland,” was published in the Journal of Pediatric Nursing.
More than 410,000 people in Ireland impacted by a rare disease
While the survey didn’t include parents of children with aromatic l-amino acid decarboxylase (AADC) deficiency, more than 60 other rare diseases were represented, and it included families waiting for a definitive diagnosis. The study’s scientists indicated that similar work in a broader spectrum of rare diseases is warranted for a fuller understanding of the burdens that can accompany these diseases.
Though individually uncommon, rare diseases collectively affect millions of people worldwide, and onset is in childhood for at least half of them. AADC deficiency, while extremely rare, is precisely one such condition, with significant developmental delays, movement disorders, behavioral issues, and other disease symptoms that often start in the first year of a child’s life.
The impact of living with a rare condition is profound — emotionally, physically, socially, and financially — and affects both patients and their caregivers. Parents are often responsible for supporting the long-term, specialized needs of children with rare diseases, which can substantially influence their life quality.
“Understanding families’ unique experiences and challenges in dealing with rare diseases is crucial for developing targeted interventions and support systems,” the scientists, largely at centers in Dublin and Belfast, wrote.
They aimed to characterize the needs of parents caring for children with rare diseases across all of Ireland, where more than 410,000 people are “impacted” by them, posing “a significant public health concern,” the team wrote.
More than 40% of parents in survey had children with complex care needs
A total of 89 parents, mostly women, completed the online survey, covering 103 children with a rare disease and 62 distinct conditions. A minority of parents (3.4%) reported having a rare disease themselves. Most parents were between the ages of 35 and 54, while most children were between the ages of 8 and 11 (34%), followed by ages 4 to 7 (28%) and 12 to 14 (18%).
Just under half (41.6%) reported their child had medically complex care needs, and 77.3% indicated their child had special educational needs. Most (75%) reported making three or more hospital visits each year.
The survey included the Parental Needs Scale for Rare Diseases (PNS-RD), a validated tool designed to identify the support needs of parents caring for a child with a rare disease. This scale includes 14 items across four domains: understanding the disease, working with health professionals, emotional issues, and financial needs.
Findings using the PNS-RD showed that parents faced challenges in explaining their child’s disease to others, including the child (27.9%), family members (17.6%), other children (31.3%), or friends, neighbors and others (23%).
Reasons for this may be multifactorial, the scientists stated, but in part they are related to the difficulties parents themselves face in understanding a complex and unusual condition. “These findings underscore the need for tailored resources to assist parents in explaining complex medical conditions to various audiences,” the team wrote.
60% of parents concerned about health team’s knowledge of child’s disease
Nearly half often parents reported difficulties in securing a consistent healthcare team (47%), receiving adequate healthcare support (47.6%), and in feeling they were involved in clinical decision-making and care planning (44.2%). Moreover, 60% had concerns about their health team’s level of knowledge concerning their child’s rare disease.
According to the study’s authors, these responses underscore a need for “greater continuity of care, more active collaboration with parents, and specialized training for healthcare providers on rare diseases.”
Caregiving’s “substantial emotional challenges” also were evident, and included proportions of parents noting feelings of anger, or annoyance or frustration (43.5%); grief, sadness, hopelessness, or depression (32.1%); and feelings of isolation, loneliness, alienation, or rejection (30.1%).
Emotional support services, such as counseling or peer support groups, could help parents manage these emotions and feel a greater sense of community, the team wrote.
Financial burden was an issue for many, with half of parents expressing difficulties in paying for medical care or special equipment, and nearly 60% facing challenges related to babysitting or respite care.
Targeted support programs, subsidies, and financial aid could help ease the economic burden for families, according to the scientists.
The mean total PNS-RD score — reflecting parent’s overall care needs across the tool’s four domains — was 48.62 out of 100, reflecting the “considerable variability in how parents experience unmet needs.” The scientists noted that scores ranged from close to zero (indicating little or no need) to nearly 100 (significant needs).
“Overall, the findings reveal a general pattern of moderate unmet needs among parents but with considerable variability in experiences,” the scientists wrote.
By implementing tailored solutions that address these unmet needs, “healthcare providers can empower caregivers, enhance their overall well-being, and improve the quality of life for families navigating the challenges of rare diseases,” they concluded.
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