charity

Charity Profile – The Gauchers Association

The Gauchers Association was formed in 1991, and is the only organisation in the United Kingdom that provides information and support to those with Gaucher disease, their families and health-care professionals.

The Association:

Supports families and carers to ensure all individuals with Gaucher disease have access to best practice in diagnosis, treatment and care.
Provides information on Gaucher disease and raises awareness of this rare disease.
Promotes research into the causes, effects and treatments of Gaucher disease.
Represents the interests of Gaucher patients at all times to ensure that the voice of the
Gaucher patient is heard.

What is Gaucher disease?

Gaucher disease is a genetically inherited, enzyme deficiency disorder. Symptoms range from mild to severe and can appear at any time, from infancy to old age. They may include anaemia, fatigue, easy bruising and a tendency to bleed. An enlarged spleen and liver with a protruding stomach may also occur as well as bone pain, demineralisation and fractures.

People with Gaucher disease lack sufficient activity levels of an enzyme called glucocerebrosidase.
This Enzyme helps the body break down worn-out cells and as a result, a fatty substance called glucocerebroside accumulates in the spleen, liver, bone marrow and sometimes in the central nervous system.

The most common form of Gaucher Disease (Type 1) affects 1 in 100,000 of the general population but 1 in 850 of Jewish (Ashkenazi) descent, although not all those who inherit the mutated genes for this disorder will show symptoms.

In the rare Neuronopathic (Types 2 and 3) Gaucher Disease, neurological symptoms occur which include an eye movement disorder (oculomotor apraxia), unsteadiness (ataxia), fits, loss of skills and a central auditory processing disorder. Children with Type 2 Gaucher disease die within one or two years of birth.

Charity Profile – Batten Disease Family Association (BDFA)

The Batten Disease Family Association (BDFA) is a national charity which aims to support families, raise awareness and facilitate research into the group of devastating neurodegenerative diseases commonly known as Batten disease. We are based in Hampshire but work with children, young people, families and professionals across the UK.

We were in formed in 1998 with the help of SeeAbility and Contact-a-Family, by a small group of parents of children with Batten disease . We were granted Registered Charity status in 2001 and the work of the charity has continued to go from strength to strength.
The BDFA’s mission is to: Bring light to Batten disease by being the central point of excellence in the UK for raising awareness, supporting affected families, and facilitating research into the disease.

OUR VISION

Our vision is to be the central point of excellence in the UK for the support, guidance and networking of affected families and professionals as well as to increase awareness and facilitate research into all forms of Batten disease. The BDFA offers informed guidance and support as well as actively increasing awareness of the disease and facilitating future research to identify potential therapies and ultimately a cure.

THE NEED

Batten disease is the main paediatric neuro-degenerative disorder in the UK. It affects 1:30,000 births and there are approximately 200 affected children and young adults in the UK. They are born apparently healthy, develop epilepsy, and lose their sight, speech, mental and motor abilities before dying between the ages of 5-30. There are 3 main types of Batten disease, affecting children at different ages depending on which defective gene has been inherited, commonly called Infantile, Late Infantile and Juvenile Batten disease. There is also a congenital form and other variants of the disease. There is continuing research into all types of Batten Disease, but no cure at present.

Having Batten disease profoundly changes the child’s and their family’s life forever. The journey from before diagnosis to death is an ever changing picture of needs as the disease progresses. Unlike other major diseases where there is a huge awareness of the support, therapies and guidance mechanisms needed for the child and family, the families of Batten Children and young people are left isolated and numbed as most professionals do not understand the course of the disease and the needs of the child and their family. It is therefore essential that the families and professionals have a place to turn to for that support and guidance. This is the principle aim of the Batten Disease Family Association so that the affected children, young adults and families do not feel isolated and are given the tools to be able to continue to live life and reach their maximum potential.

The BDFA, as the only UK Batten disease organisation, takes responsibility for guiding the future direction and facilitation of the management of Batten Disease in Health, Education and Social Services. The BDFA also aims to fully promote UK research with a view to finding potential therapies and ultimately a cure into all types of the Disease. The BDFA also aims to work collaboratively to raise awareness, support families, and facilitate research with other Batten Disease organisations worldwide.