Inspirational National charity MPS Society encourages public to share stories about rare genetic disease
By Good News Post
The MPS Society is celebrating Fabry Awareness Month this April.
The Buckingham-based charity hope to bring increased awareness of the rare genetic disease, Fabry to healthcare professionals and the wider UK population.
Fabry is a rare genetic disease which affects between 1:40,000 people. It is estimated that nearly 6% of the UK population (around 3.5 million people) will be affected by a rare disease at some point in their lives. Fabry remains a severely underdiagnosed, misdiagnosed, and often misunderstood disease.
One of MPS Society’s supporters, Loretta MacInnes, was diagnosed with Fabrywhen she was 50 years old despite having symptoms since childhood. She has written a collection of blogs explaining her journey with Fabry which can be viewed here mpssociety.org.uk/fabry-awareness.
The charity is encouraging everyone to read and share her blogs as much as they can, through word of mouth or social media, to spread awareness of Fabry and look out for the tell-tale signs of the disease.
MPS Society have a number of fun virtual activities lined up for the general public and their supporters to coincide with Fabry Awareness Month. They launched Active April, by challenging supporters to get fit this April by walking, running or wheeling 50km.
The MPS society is supported by The Priory learning Trust schools in Somerset.
The charity’s Group Chief Executive Officer, Bob Stevens, says, “We are hoping that Fabry Awareness Month 2021 will be our biggest and best yet. We are constantly striving to increase awareness of Fabry and other rare life-limiting diseases to fund vital research for them.”
If you wish to donate to MPS Society, please visit mpssociety.org.uk/donate-now or call their Fundraising team on 0345 389 9901. By donating just £6, you could pay for a newly diagnosed family to receive a disease specific information booklet.
Founded in 1982, by Christine Lavery, MBE, the Society for Mucopolysaccharide Diseases, or MPS Society, is the only registered charity providing professional support to individuals and families affected by rare, life-limiting genetic diseases such as MPS, Fabry or a related disease in the UK.
MPS Society are transforming the lives of those affected by MPS, Fabry and related diseases and reach over 1,500 people per year.
Mucopolysaccharide (MPS) diseases are a family of rare, life limiting lysosomal storage disorders that can affect both children and adults. Mucopolysaccharides are long chains of sugar molecules used in the building of bones, cartilage, skin, tendons and many other tissues in the body. Usually there is a continuous recycling process of building new mucopolysaccharides and breaking down old ones.
For people with MPS diseases there is not enough of a particular enzyme to break down used mucopolysaccharides which means they build up and store in the cells in the body which causes progressive damage.
Fabry disease is closely related to mucopolysaccharidoses and is one of the lysosomal storage diseases. It was first described in 1898 by William Anderson and Johannes Fabry and is also referred to by some as Anderson–Fabry disease.
The MPS Society supports 25 MPS and related diseases including the Mucolipidoses, other ‘storage diseases’ and the following diseases which are similar to Mucopolysaccharide Diseases.
Symptoms can vary greatly but all forms are characterised by a degree of neurodegeneration and cognitive impairment. More information about the diseases can be found here https://www.mpssociety.org.uk/related-diseases
