Being diagnosed and living with mucopolysaccharidoses is life changing. The Austrian MPS Society, MPS Austria, is an organisation which supports families and their individuals suffering from the condition.
In this booklet, the Austrian MPS Society provides a detailed look into the condition, as well as highlighting the various challenges that face those afflicted with mucopolysaccharidoses and their loved ones.
The Austrian MPS Society was founded in 1985 and is the only Austrian charity working in this area. They work in many ways to support all those affected by the condition to increase their quality of life.
What is mucopolysaccharidoses?
Mucopolysaccharidoses is a group of rare, inherited, incurable metabolic diseases caused by disorders in the metabolism of the lysosomes of each cell. It occurs when one of the 12 necessary enzymes responsible for the continuous process in the body for replacing used materials and breaking them down for disposal is missing or barely effective.
Symptoms are often not evident at birth, but begin to develop as more cells become damaged. The symptoms include the enlargement of:
- Liver;
- Spleen;
- Tongue; and
- Heart.
Other symptoms include:
- Thickening of the heart valves;
- Cornea clouding;
- Hearing loss;
- Narrowing of airway and spinal cord;
- Reduced joint mobility;
- Hernias;
- Skeletal deformations; and
- Short stature.
In some types of MPS, changes to the nervous system can result in severe neurological symptoms, as well as epilepsy and intracranial pressure.
What does the MPS Society do?
Within this booklet, the MPS Society outlines three core focus areas:
- Support – Depending on the family’s needs, they offer a wide range of consultation, help and support, services, whilst also promoting a better understanding of the diseases and helping to develop relationships with health professionals. They also organise conferences and provide a range of therapies and workshops to increase quality of life;
- Awareness – In a bid to boost awareness of MPS, the society produces promotional materials and information in a variety of ways, including brochures, leaflets, banners, posters, and videos; and
- Research – Globally, the MPS Societies are dedicated supporters of clinical research, diagnostic tools, and understanding of the disease on the whole, both financially and by staying in contact at congresses and conferences.
