Health Related Quality of Life Study: A Snapshot of Rare Disease Lives

People living with Rare Disease know they live rare lives. It's tough being the zebra in the room, especially because our doctors rarely look for zebras. Even when they find out we are rare, most have no ideas about the unique day to day challenges facing those of us with Rare Disease.

One major fact lies before most of us: we cannot count on a cure within our lifetimes. While new Rare Disease Collaborative Research models are starting to show promise, there are many unique challenges facing researchers working with rare disease.

Luckily, our Rare Disease community is learning fast, sharing resources, propping each other up as we create unique solutions for researchers in Rare Disease. The internet has opened up amazing possibilities for growth and organization including globally connected, free access, Bioregistries that Rare Disease research can access from anywhere in the world. In the past, patients were scattered over large areas making research activities costly and difficult. The Rare Disease community as a whole is growing and sharing knowledge quickly in this new age of connectivity. 

This study is the first to study the HRQL (Health Related Quality of Life) in Rare Disease patients. It is an exciting first step in understanding the unique lifetime challenges faced by the Rare Disease community as a whole: whether your rare disease is #arachnoiditis or #PXE, Quality of Life issues are similar.

While most of us living with Rare Disease experience unique challenges to diagnosis, treatment, knowledgeable doctors and appropriate support, it might come to some surprise that while those with longer term symptoms have lower quality of life, those having their own diagnosis longer had better. This is important to know, pressuring our Patient advocacy groups to prioritize Physician awareness of these Rare Diseases. (Luckily, Global Genes matches Rare Disease Patients w Med Students offers opportunities for Rare Disease patients to be matched with Medical students interested in Rare Disease).

Ready for more? The latest research study, Health-related quality of life among adults with diverse rare disorders is an interesting and recommended read.

Kathleen R. BogartEmail author and Veronica L. Irvin
Orphanet Journal of Rare Diseases201712:177©  The Author(s). 2017
Received: 13 September 2017Accepted: 30 November 2017Published: 7 December 2017


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