Rare Shouldn’t Mean Alone

A study published in the Journal of Genetic Counseling provided evidence for something every rare disease patient and caregiver has learned in the school of experience.

Alone in a Crowd? Parents of Children with Rare Diseases Experience of Navigating the Healthcare System 1 reported on the challenges rare disease parents face once their children are diagnosed.  Although the study was conducted in British Columbia, many of the problems are universal: gaps in service, barriers to access, financial struggles and employment changes, the need to become your own care coordinator, and emotional challenges coupled with feeling isolated and alone. 

Patient advocacy groups make an enormous difference in the ease with which families adapt to life with a rare disease.  The problem is that the vast majority of rare diseases don’t have an official organization. Even a de facto organization, such as a closed Facebook discussion group, can provide peer support.  However, the quality of advice that patients and parents receive is largely dependent on the knowledge of fellow participants – which can be uneven.

Gaps in support have a domino effect.  When families are overwhelmed by the emotional, financial and practical burdens of coping with a rare disease diagnosis, patients are less likely to succeed on treatment – or to obtain treatment at all.  

One way to fill the gap is with home healthcare which, studies2 have shown, may produce better outcomes at a lower cost to the healthcare system. But despite the clear advantages, resistance from providers and payers has slowed growth in this offering.

Covid-19 may be creating a lasting shift away from hospital-based treatment toward homecare, for both clinical care and clinical trials.  In the meantime, choosing a managed access model that merges high-quality homecare with robust data collection can provide drug developers in the rare disease space with a way to maximize success on treatment, both during clinical trials and after approval, while doing the right thing for patients.  

From a business standpoint, it makes sense to listen to what patients and caregivers have known all along: Rare doesn’t mean you have to be alone.  

1. Baumbusch J, Mayer S, Sloan-Yip I. Alone in a Crowd: Parents of Children with Rare Diseases Experiences of Navigating the Healthcare System. Journal of Genetic Counseling. 2019; 28(1): 80-90.2. Klein S. “Hospital at Home” Programs Improve Outcomes, Lower Costs but Face Resistance from Providers and Payers. The Commonwealth Fund Newsletter. Accessed online August 2020, https://www.commonwealthfund.org/publications/newsletter-article/hospital-home-programs-improve-outcomes-lower-costs-face-resistance.

Comments are closed