A rare disease journey using grace and communication to create a | 17811
Journal of Genetic Syndromes & Gene Therapy

Journal of Genetic Syndromes & Gene Therapy
Open Access

ISSN: ISSN: 2157-7412

A rare disease journey using grace and communication to create a team of experts

Annual Congress on Rare Diseases & Orphan Drugs

October 26-27, 2016 Chicago, USA

Anne Bruns

The Atypical HUS Foundation, USA
Utah Rare, USA

Posters & Accepted Abstracts: J Genet Syndr Gene Ther

Abstract :

The diagnosis of a rare disease is a harsh blow to a family and begins a long road of education and understanding for all involved. Navigating this process is time consuming and emotional. This presentation is to help others understand the process and hopefully have a smoother transition into the new normal they now face. As a mother of a son with a rare disease, I have cried at the official diagnosis, been grateful for a rare orphan drug that can save his life and then devastated to have it almost ripped away when our employer cut off our insurance. Working with a school to create a positive and safe day for your child can be overwhelming. Learning how to talk to and work with doctors and therapists is a key to creating a team that will effectively care for your child is incredibly important. All of these new situations can be handled through effective communication and a positive and gracious attitude. As a patient��?s advocate, we are their voice and there is a need for this voice to be heard by all those making life and death decisions when it comes to rare disease and the available drugs that can ultimately save them.

Biography :