Mucopolysaccharidoses (MPS) are slowly progressive and inheritable metabolic diseases
They occur in children of healthy parents and are triggered by a genetic defect that leads to disruption of protein function (‘enzymes’). These enzymes are needed in the cell to degrade the mucopolysaccharide. If they do not work properly, they accumulate in the cells and destroy them. Although the children are completely healthy at birth, they soon lose their physical and/or mental development and develop severe disabilities. The shapes of the MPS are very different. The diseases can lead to bone changes, to the destruction of internal organs such as heart, liver and spleen and to brain function disorders. Some patients become blind, many are hard of hearing. Almost all are short-lived.
Anyone with a child suffering from mucopolysaccharidosis is under great strain. It is not easy to find an answer to all the questions you suddenly have to deal with.
- What does the term “metabolic disease” mean?
- What will happen?
- What does “early death” mean?
- When will that be?
- Hereditary disease? Does not that mean the baby was born ill?
- What about the siblings?
Even doctors admit they know little about this rare disease, its course, its problems. It is therefore natural to seek help and comfort in someone who has the same concerns – someone who knows the disease and with whom one can talk; someone who has a child with MPS. Thus the idea was born to found a self-help association. The first self-help association for MPS existed in the US and was followed by one in Canada, Australia, the UK, South Africa and Japan.
European action on MPS
In Austria in 1985 Marion Kraft and Dr med Dr Susanne Kircher founded the first German-speaking self-help group. Germany followed in 1987 and now there are self-help associations in many other European countries, e.g. in France, Italy, Poland, Sweden, Switzerland, Spain, the Czech Republic and Hungary.
We can not cure MPS children, but we can help to improve their quality of life and thus greatly facilitate the lives of the affected families.
MPS Austria, a non-profit-orientated charitable organisation, has been run by Michaela Weigl since 1999. We strive to promote awareness of the affliction through information material such as flyers, folders, brochures, activity reports, posters, banners, trade fair stands and lectures. Dr Kircher orchestrates the research society from the Medical University of Vienna.
Creating perspectives together – for children with MPS
An international MPS network has been in existence for more than 20 years, and once a year convenes to share stories, activities and research developments. This year we celebrate International MPS Awareness Day on 15 May.
Together we can achieve more!