Hi, I’m Natalie, Genetic Alliance UK’s Policy and Engagement Manager for Scotland.
As Policy and Engagement Manager for Scotland my responsibilities include raising awareness of genetic, rare and undiagnosed conditions, influencing policy and service development and delivery in Scotland and providing the Secretariat to the Cross Party Group (CPG) on rare, genetic and undiagnosed conditions in the Scottish Parliament. You can find out more about the CPG here: bit.ly/scottishcpg.
Most recently I have been working with families, patient groups and support organisations to develop Rare Resources, an information resource for families with a child or young person with a genetic, rare or undiagnosed condition living in Scotland.
The journey to diagnosis can take some time, and for some families a diagnosis may not be possible. We often hear from families that it can be difficult to find good quality information during this time and so the Rare Resources project was developed to create a resource to point families to reliable sources of information and support in Scotland.
The resource has been designed to so that families can dip in and out of it at their own pace as needed. It contains information, top tips from other parents and links to further information and sources of support.
Although the toolkit cannot provide condition specific information and we recognise that not everything in the toolkit will be relevant to all families, we hope that it will be a useful introduction to genetic, rare and undiagnosed conditions and a starting point for finding reliable information.
Rare Resources will be tested by families over the next six months and we are delighted that over 100 families responded to our call for testers. We would be delighted to accept more families as testers and would welcome involvement of more undiagnosed families in Scotland.
Developing and expanding the Rare Resources project will be an important and exciting part of my work in the coming year.
Over the next few months we will also be holding a number of workshop events to introduce the resource, share more about the Rare Resources project and provide families with the opportunity to provide feedback and to meet other families with genetic, rare and undiagnosed conditions.