Route Maps for Rare Conditions Toolkit

Map the journey for your rare condition

Genetic Alliance UK has launched a Toolkit to help patients and their families map the gold standard journey for health and social care.  This is available below.

An estimated 3.5 million people in England are likely to develop a rare condition at some point in their life and service provision for people with rare conditions is unsatisfactory. It can often take a long time for families to be given an accurate diagnosis and while they are seeking a diagnosis, the condition may worsen or be exacerbated. A survey found that "25% of patients reported waiting between 5 and 30 years from the time of first symptoms to a confirmatory diagnosis" and "40% of patients were initially misdiagnosed, leading to severe consequences such as inappropriate medical interventions." (The Voice of 12,000 Patients - Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe, Eurordis, February 2009).

When a diagnosis of a rare condition is given, patients and families often find it difficult to access information about the condition and about the services available to them. The Eurordis survey identified that "26% of patients reported difficult, very difficult or impossible access to services. Lack of referral was the greatest barrier."

This lack of information about rare conditions means that it is extremely difficult for patients and families to play an active role in their care, make informed choices about their treatment options or plan for their future. It is effectively impossible for patients and families with rare conditions to be involved in personalised and integrated care as supported in World Class Commissioning and the aims of Putting People First: A shared vision and commitment to the transformation of Adult Social Care (Department of Health, 2007).

At Genetic Alliance UK, we have developed a Toolkit to support groups wishing to improve information provision as well as empower patients and their families to access better care and participate in decision making around their care.  The Toolkit has been developed based on the experiences of 10 pilot groups who created their own condition specific Route Maps.  They can be found here.

To hear more about the Route Maps for Rare Conditions project please watch the video below.  To hear more about the work that Genetic Alliance UK does please watch the video at the bottom of the page.



The Toolkit can be downloaded here and has been designed to be printed double sided.



Business Case

Conflicts of Interest

Meeting Agenda

Meeting Minutes

Project Plan

SMART Objectives

Case Studies from Pilot Groups:

Breathtakers OB Trust

The Jennifer Trust for Spinal Muscular Atrophy

Vasculitis UK



If you would like more information please contact us.