3 solutions to facilitate the activities of informal carers of rare disease patients

Published on 05 July 2023 Read 25 min

A rare disease is defined by the EU as a medical condition that affects fewer than 1 in 2000 people[1]. It is estimated that 475 million people are affected by a rare disease worldwide[2]. Caregivers can be paid professionals (formal caregivers or carers) or family members and friends (informal caregivers or carers) that provide care services with no financial benefit in return. The informal carers play an important role as key decision makers throughout the care pathway of a rare disease patient and sustain an important burden. In this article, Alcimed analyzes the medical, economic and mental challenges faced by informal caregivers of patients affected by a rare disease.

Solution n°1: providing informal carers with diagnosis tools to help identify the rare disease

One of the first problems encountered by patients with rare diseases is the long and stressful process of being diagnosed with a rare disease. Several studies have reported that on average a patient with a rare disorder is correctly diagnosed after consulting over 17 specialists during a period of more than 6 years[3]. Caregivers need support with tools to accelerate and optimize the process of diagnosing the condition, for example, by being put in contact with specialized research centers and genetic testing programs. Moreover, after delivering the diagnosis, medical professionals should provide caregivers and patients with quality information about the disease and introduce them to disease specific support groups and counselling services.

Solution n°2: supporting informal carers during disease and orphan treatment management

Later along the patient pathway, caregivers must be supported when searching for a good quality therapy with orphan medicine, if there is one, and in coordinating the team of numerous healthcare professionals that must be involved. Also, caregivers must be assisted in learning medical procedures and services that might have to be delivered at home, for example, parenteral nutrition or oxygen therapy.
Therefore, several strategies can be implemented at different stages of the rare disease patient pathway to reduce the difficulties faced by a caregiver. A notable example is European Reference Networks that organize virtual advisory boards of medical specialists across the EU to review a rare disease patient’s diagnosis and treatment with an adapted orphan drug.

Learn more about care pathways for patients with rare diseases >

Solution n°3: alleviating the mental and economic burden of informal carers

Rare disease caregiving is a 24/7 commitment over a long time. Moreover, it is often an emotional burden due to a multitude of factors including social isolation, anticipatory grief and career sacrifices. Support groups, care and caregiving benefits are significant solutions that can be offered to help them relieve their physical and mental exhaustion. Finally, caring for rare disease patients is an extremely high economic burden due to the direct cost of care, as well as the indirect costs of travel and lodging to reach distant specialized healthcare facilities and the economic losses caused by reducing or resigning from paid work. Thus, initiatives such as the National Organization for Rare Disorders Caregiver Respite Program, that financially supports families of rare disorder patients in the United States to take time off from caregiving, are critical to reducing the extremely high out-of-pocket costs that rare disease caregivers must sustain.

Caregivers of people with rare diseases face systemic challenges. A methodical analysis of the pain points that arise as they support rare disease patients throughout the care pathway and an assessment of the overall burden of their role is pivotal to identifying constructive solutions. The Alcimed Healthcare team has developed a considerable expertise, both in the field of rare diseases as well as in projects that assess challenges faced by all the stakeholders involved in a patient pathway to provide tailored solutions at the local level. We can accompany you in your projects related to these subjects. Don’t hesitate to contact our team!

[1] Reserved, I. U.-. A. R. (s. d.). Orphanet : About rare diseases.
[2] World Economic Forum. Global Data Access for Solving Rare Disease—A Health Economics Value Framework.
[3] National Alliance for Caregiving. The Circle of Care Guidebook for Caregivers of Children With Rare and/or Serious Illnesses.

About the authors, 

Benedetta, Consultant in the Alcimed’s Healthcare team in Italy
Hélène, Senior Project Manager in the Alcimed’s Healthcare team in Italy

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