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Rare insights

National charity MPS Society encourages the public to spread awareness about rare genetic disease

Buckinghamshire based charity, the MPS Society, is celebrating Fabry Awareness Month this April. Together, they hope to bring awareness of what it’s like living with the disease whilst highlighting the varied symptoms to healthcare professionals and the wider population.

The charity, which is celebrating its 40th anniversary this year, is focusing on a range of perspectives, from people who have Fabry, to those whose loved ones have been diagnosed with the disease, to clinicians specialising in Fabry and advice from their dedicated Fabry Support and Advocacy Officer.

Fabry is a rare genetic disease that 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. 

Steven Gill, a supporter of the MPS Society, knows the debilitating effect that Fabry can have. His dad had the disease and sadly passed away last year aged 56. Steven explains more about his dad’s journey with Fabry here: www.mpssociety.org.uk/fabry-awareness.

The charity is encouraging everyone to read and share their blogs as much as they can, through word of mouth or social media, to spread awareness of Fabry and what it’s like living with the disease.

Steven and his dad

The MPS Society has several fun virtual activities lined up for the general public and their supporters to coincide with this year’s Fabry Awareness Month. They are launching “Active April”, challenging supporters to get fit this April by walking, running or wheeling 50km. Also, they are hosting several interactive workshops for children during the Easter holidays.

The charity’s group chief executive officer, Bob Stevens, says: “We are hoping that Fabry Awareness Month 2022 will continue to increase awareness of Fabry and what it’s like to live with a rare disease. The MPS Society want to ensure that families receive the fastest possible diagnosis, but we can’t do this without your help as we need vital funds to make this happen.”

If you wish to donate to the MPS Society, please visit www.mpssociety.org.uk/donate-now or call their fundraising team on 0345 389 9901. Why not donate £40 for their 40th anniversary? By donating £40, you could fund a support and advocacy officer for two hours so they can provide a listening ear to a child and their family.


About MPS Society

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 related diseases in the UK. The charity reaches over 1,500 people per year.

About MPS

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.

About Fabry

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.

About related diseases

The MPS Society supports 25 MPS and related diseases including mucolipidoses and other “storage 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


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