National Family Caregivers Month: A focus on caregivers of children with rare diseases

Industry Insights



Dr Vanessa Cooper    Dr Laura Meade



This month is National Family Caregivers Month. Here at Sprout, we do a lot of work developing programmes for children with rare diseases and their families. Through this work we aim to support caregivers who are striving to provide the best care they can for their loved ones.

Rare diseases affect between 6-10% of the global population,1 many of these diseases have no formal title and can take years to diagnose.2 The majority of rare diseases are present from birth and the first signs may be noticed by caregivers and family members long before a formal diagnosis.3 Caring for a child with a rare disease often involves a shift in priorities for the caregivers with consequences for relationships, at work, on the family income and domestic responsibilities.



The many hats of caregivers of children with rare diseases


Caregivers of children with rare diseases can find themselves in a new role, advocating for their child, navigating care systems and often coming up against barriers to receiving a diagnosis or the medical care and support that their child needs. Many caregivers feel that their concerns about their child are not taken seriously and some experience difficulties in communicating with medical professionals.4 Misdiagnosis is common and even when a definitive diagnosis has been made, it can be difficult to access high quality information about the disease and treatment. Not surprisingly, caregivers often feel frustrated and isolated, and the stress can impact family relationships.4, 5



The Supportive Care Framework


The Supportive Care Framework was originally developed as a tool for cancer care professionals to understand the type of support people with cancer might require and how to approach their care.6 The framework has since been adapted to understand the needs of caregivers of children with rare diseases.3  In a systematic review of 29 qualitative and quantitative studies, the most commonly reported support care need for caregivers of children with rare diseases was social support, followed by informational needs and emotional needs.3

We have summarised the main support needs below and identified types of support that could help address the unmet needs, along with links to online resources that may be useful for caregivers.




Informational support needs

  • General medical information
  • Frustration over perceived lack of knowledge from HCPs
  • Having to assume role of “expert” in the child’s care
  • Desire for accessible and trustworthy information that can be shared with friends and family

Addressing informational needs

 Caregivers of children with rare diseases may benefit from:

  • Information that steers away from medical jargon (see more about health literacy here)
  • Tips on getting the most from consultations with HCPs, getting answers to questions and advocating for their child
  • Signposting to trustworthy sources of information about their child’s rare disease
  • Disease specific websites run by patient advocacy organisations

Links to potential sources of informational support

 Sources of information about rare diseases include:





Social support needs

  • Lack of access to support groups
  • Feeling socially isolated and disconnected
  • Impact on marital relationships
  • Balancing work and family

Social support

Online and in-person peer support can help caregivers to gain information, ask questions and advocate for their child.  Online support can help bring: 7,8

  • A sense of community and connection with others who have shared experiences
  • Reassurance and validation
  • A feeling of being more in control and able to cope in times of uncertainty

Links to potential sources of social support

Services that run online communities for people affected by rare diseases, including parents and caregivers include:





Emotional support needs

  • The period leading up to and around diagnosis can be an emotional time
  • Caregivers may experience high levels of stress and guilt
  • Caregivers often feel overwhelmed and question whether they can cope long term

Emotional support

Stress and anxiety may be alleviated through support to help caregivers:9

  • Gain a new perspective
  • Develop helpful coping strategies
  • Share responsibility for their child’s care (e.g. by reallocating tasks to other family members)
  • Increase self-care by identifying needs, planning enjoyable activities, and assessing these daily

Links to potential sources of emotional support

There is evidence that techniques including relaxation and mindfulness can help caregivers to manage challenging situations and increase quality of life, such as this programme developed for caregivers of children with Hunter syndrome:

You can also find a three minute mindful breathing exercise on our website here






  1. Jaffe A, Zurynski Y, Beville L, et al. Call for a national plan for rare diseases. Journal of Paediatrics and Child Health. 2010;46(1-2):2-4.
  2. Denis A, Mergaert L, Fostier C, et al. Issues surrounding orphan disease and orphan drug policies in Europe. Applied Health Economics and Health Policy. 2010;8(5):343-350.
  3. Pelentsov LJ, Laws TA, Esterman AJ. The supportive care needs of parents caring for a child with a rare disease: A scoping review. Disability and Health Journal. 2015;8(4):475-491.
  4.  Cardinali P, Migliorini L, Rania N. The Caregiving Experiences of Fathers and Mothers of Children With Rare Diseases in Italy: Challenges and Social Support Perceptions. Frontiers in Psychology. 2019;10(1780).
  5. Pelentsov LJ, Fielder AL, Esterman AJ. The Supportive Care Needs of Parents With a Child With a Rare Disease: A Qualitative Descriptive Study. Journal of Pediatric Nursing. 2016;31(3):e207-e218.
  6. Fitch MI. Supportive care framework. Can Oncol Nurs J. 2008;18(1):6-24.
  7. Treadgold BM, Teasdale E, Muller I, Roberts A, Coulson N, Santer M. Parents and carers’ experiences of seeking health information and support online for long-term physical childhood conditions: a systematic review and thematic synthesis of qualitative research. BMJ Open. 2020;10(12):e042139.
  8. Mogul DB, Bowring MG, Lau J, et al. Role for Social Media in Pediatric Liver Disease: Caregiver and Provider Perspectives. Pediatr Gastroenterol Hepatol Nutr. 2020;23(6):548-557.
  9. Fidika A, Herle M, Lehmann C, Weiss C, Knaevelsrud C, Goldbeck L. A web-based psychological support program for caregivers of children with cystic fibrosis: a pilot study. Health Qual Life Outcomes. 2015;13:11