We are supporting Rare Disease Day

Date: Tue 28th February 2017

Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.The campaign targets primarily the general public but also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

Scleroderma is a rare condition affecting approximately 12,000 people in the UK - that's just 1 person in every 5,500.

Scleroderma is a rare, chronic disease of the immune system, blood vessels and connective tissue. It is an autoimmune condition, meaning the immune system becomes overactive and attacks healthy tissue in the body. Hardening of the skin can be one of the first noticeable symptoms of the condition, as the body produces too much collagen. This excess of collagen can affect the skin, joints, tendons and internal organs. It causes scarring and stops the affected parts of the body from functioning normally.

Diane lives with diffuse systemic scleroderma and shared her story with us.

Research is key to understanding scleroderma and developing more effective treatments as we work towards a cure. With research, the possibilities are limitless.

This year for Rare Disease Day 2017 the official video draws a parallel with a routine that many of us go through multiple times a day - searching for an answer on the internet. The video highlights how isolating it is when you search on the internet but receive the response 'your search had no results'. It also highlights the hope and promise that comes with additional research into rare diseases, something that must be continuously strived for.

SRUK Funded Research - Case Study

Implantable Loop Recorder, University of Leeds

We invested £75,000.00 into a project looking at identifying heart involved in systemic sclerosis.

The study highlights the need to identify patients at risk of heart disease to offer them monitoring that could save lives by the early detection and treatment of life-threatening heart rhythm abnormalities.

Scleroderma can affect the heart in many ways - disturbing the conduction system controlling heart rhythm or compromising the heart muscle, valves, and the heart's external lining. Despite the fact that heart involvement is common in scleroderma, many patients do not experience any heart symptoms at all, leading to a potentially dangerous situation of unmonitored heart disease.

"We know that cardiac involvement in systemic sclerosis is associated with a very poor prognosis, accounting for between 14 and 55 percent of deaths among patients with systemic sclerosis," said study lead author Dr. Lesley-Anne Bissell from the Musculoskeletal Biomedical Research Unit at the University of Leeds. "Early diagnosis and treatment to reduce the risk of complications is therefore essential and crucial for a positive outcome."

To date the project has identified heart rhythm abnormalities in 15 patients, which will allow them to be carefully monitored and receive further potentially life-saving treatment.

The project is due to be completed July 2017 and a full update will be provided on how this project is helping to change lives.

We are committed to investing in research. We have invested over £10 million into Scleroderma and Raynaud's research to further understand the conditions, the mechanisms and progression to develop safer and more effective treatments as we work towards a cure. You can support our life changing work today by donating.