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The Society for Mucopolysaccharide Diseases (MPS Society)    Big text

Overview Big text

The Society for Mucopolysaccharide Diseases (MPS Society) is a UK charity founded in 1982 which supports individuals and families affected by MPS and related Lysomal Storage Diseases by providing support, research and awareness. The MPS Society is based in Amersham, Buckinghamshire and supports families across the United Kingdom.

' History '

The MPS Society was founded in 1982 after the son of Chief executive Christine Lavery MBE was diagnosed with MPS II Hunters disease. At the time there were no support groups or networks of families established for parents of children with MPS Diseases.  What are Mucopolysaccharide Diseases?

Mucopolysaccharide (MPS) and related diseases are Lysosomal Storage Diseases. These are rare, life-limiting, genetic, progressive metabolic conditions caused by a shortage of a particular enzyme. The enzyme deficiency that results from MPS diseases means the body can’t break down (metabolise) certain molecules called GAGs (glycosaminoglycans). GAGs are structural molecules that are integral to connective tissues such as cartilage, tendons and other tissues in the body. They accumulate in cells within tiny structures called lysosomes. Without essential enzymes to break down, recycle and build new Mucopolysaccharides they continue to be stored inside the lysosome. This causes the lysosome to swell and disrupts cell functioning. These multi-organ storage diseases cause progressive physical disability and, in many cases, severe neurological deterioration and can result in death in childhood.

Symptoms

Babies may show no sign of the disease but as more and more cells become damaged by the storage of used material, symptoms begin to appear. Sadly these are progressive diseases which lead to an increase in problems as time goes by which can affect the major organs including heart, liver, kidneys, and also the bones, eyes and skin and can lead to increasing neurological deterioration.

Causes

MPS and related diseases are inherited conditions. The majority of types are inherited by autosomal recessive transmission. That means that if both of your parents are carriers, you have a one in four chance of having the disease.

Treatment

Currently, although there is no cure, Enzyme Replacement Therapy (ERT) and Hoematopoietic Stem Cell Transplant (HSCT) are available to treat some forms of MPS and related disease, although for the Majority there is only treatments for the symptoms as they arise.

The Diseases:

MPS I H, Hurler MPS I HS, Hurler Scheie MPS I S, Scheie MPS II H, Hunter MPS III, Sanfilippo MPS IVA, Morquio MPS VI, Maroteaux Lamy MPS VII, Sly MPS IX, Natowicz

'''Other related diseases which are similar to MPS include:''' Aspartylglycosaminuria Fabry Disease Fucosidosis GM I Gangliosidosis Geleo Physic Dysplasia MLI Neuramidase Deficiency MLII I-Cell MLIII Pseudo Hurler Polydystrophy MLIV Mannosidosis Metachromatic Leukodystrophy Mutliple Sulphatase Deficiency Sialic Acid Storage Disease Sialidosis Winchester Syndrome

About the Society

Advocacy

The MPS Society has a team of Advocacy Officers who provide professional individualised support to families. This includes: Telephone Helpline - Offering information and support over the phone including an out of hour’s service Disability Benefits – Providing help and support in completing forms and, where needed, taking a representative role in appeals and tribunals Housing and equipment – Supporting and advocating on the behalf of members to help get the most appropriate housing and home adaptations. Education – Support to get the most appropriate education for children, informing Statements of Special Educational Needs and running information workshops for schools and other professionals Respite care – The MPS Society works closely with a number of respite providers such as hospices and, where appropriate makes individual referrals Independent living/Transition – Advice, information and support is given through the transition from child to adult services. This includes access to independent living, learning to drive, further education and employment MPS care-plans – The MPS Society undertakes a comprehensive assessment of the issues which need to be addressed when caring and providing support to a child diagnosed with an MPS or related disease, as well as other family members through the writing of a careplan Befriender service - linking individuals and families affected by MPS and related diseases to share experiences and gain mutual support Bereavement support – The MPS Society provides on-going support to families following bereavement and offers the opportunity to plant a tree in memory at the Childhood Wood in Sherwood Forest, Nottingham.

Research

The Society's overarching research objective is to 'Promote and Support Research into MPS and Related Disorders.' It plays a leading role with clinicians, scientists and academics in initiating and funding innovative research projects which may have a therapeutic benefit to those affected by MPS and Related Disorders. Initially, the MPS Society funded one-off projects. In 1995 the MPS Society undertook to develop an MPS Stem Cell Group at the University of Manchester with an initial programme grant of over £300,000. Over the years support to this group has grown and many research projects have been funded. Since 1985 the Society has funded and participated in innovative projects that have advanced the knowledge of MPS and related diseases.

Membership The MPS Society has approximately 1200 members across the United Kingdom who are affected by MPS and related Lysomal Storage Diseases to whom it provides support and advocacy. Membership is free to those who register.

Fundraising

The MPS Society is entirely dependent on voluntary donations and fundraising. Wicked Genes is the Fundraising initiative of the MPS Society.

Wicked Genes has been developed to encourage individuals, schools and businesses to ‘get wicked’ with their fundraising for the MPS Society.

Wicked Walkabout

Wicked Walkabout is a programme promoted by the MPS Society. Individuals and groups receive support from the Wicked Genes team based at MPS House to organise their own walk / run or cycle. These are designed to raise awareness of the MPS Society through fundraising.

There are many other ways in which individuals can support the MPS Society, including donations, volunteering, buying merchandise or leaving a legacy.

MPS Awareness Day

MPS Societies across the world come together to mark International MPS Awareness Day on May 15th each year.

The MPS Society UK mark the event by encouraging supporters to donate £1 to ‘wear it blue’ acting as both an awareness raiser and a fundraising opportunity.

External links:

www.mpssociety.org.uk