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About Tay-Sachs and Sandhoff
Tay-Sachs and Sandhoff disease are genetic diseases which are terminal illnesses in children. Waste products build up in their brain and over period of time the children lose their ability to eat, walk, crawl, see, hear and move. They become completely dependent on their parents and many lose their fight against Tay-Sachs and Sandhoff disease by the age of five.
Tay-Sachs and Sandhoff disease are genetic diseases caused by the lack of an enzyme in the brain.
The symptoms of Tay-Sachs and Sandhoff are long and varied and differ between individuals.
There is currently no cure or treatment available although work is being undertaken to find one.
eAcademy for Tay-Sachs & Sandhoff App
We are delighted to announce that to coincide with Rare Disease Day on the 28th February 2015 The Cure & Action for Tay-Sachs (CATS) Foundation launchd the eAcademy for Tay-Sachs and Sandhoff Disease app which the charity designed!
In 2014 The CATS Foundation was one of the Genzyme Patient Advocacy Leadership (PAL) Award winners. The charity was awarded a grant of $15,000 to create an app for smartphones and tablets which is aimed at providing caregivers of individuals with Tay-Sachs and Sandhoff information on the diseases, symptom management and many other subjects.
We hope that this app changes the way in which families affected by Tay-Sachs and Sandhoff disease are able to access information to help in their role as a carer. We have big plans for the eAcademy for Tay-Sachs and Sandhoff Disease app and it will be regularly updated with new content covering new subjects.
The Cure & Action for Tay-Sachs (CATS) Foundation was established in June 2011 by Daniel and Patricia Lewi. Their daughter Amelie was diagnosed with Tay-Sachs at seventeenÂ months of age in March 2011 and at the time there was no UK based charity dedicated to providing support toÂ families affected by Tay-Sachs or Sandhoff disease.
The CATS Foundationâs main focus is supporting families affected by Tay-Sachs and Sandhoff whilst also raising awareness of the diseases and funding the research for a potential treatment for the diseases. The charity has also been instrumental in establishing the European Tay-Sachs Charity Consortium (ETSCC) and is a member of the UK LSD Collaborative. A short video on the history of the charity can be seen below.
At The CATS Foundation we support our member families in a variety of ways to ensure that an individual suffering from Tay-Sachs and Sandhoff disease have as high a quality of life as possible. By helping families with various different services it means that they do not feel isolated when coping with the disease and have access to a support network.
The equipment we provide has a direct impact on an individual’s quality of life.
By providing access to respite trip funding it means that families can spend some quality time together.
We have a support network which families can join to meet others who have a loved one affected by the diseases.
The work into a gene therapy trial for Tay-Sachs and Sandhoff disease (GM2 Gangliosidosis) being undertaken in Cambridge has steadily been progressing. Several significant steps have been achieved since the team was awarded its grant of Â£2.84 million from the UK Medical Research Council (MRC) for the trial and each day brings us closer to achieving our goal of having a treatment for these diseases.
The CATS Foundation is actively involved in this research and is the nominated patient organisation for the planned clinical trial. More information on this can be found below.
Find out everything about the research into a potential gene treatment for Tay-Sachs and Sandhoff.
The research team is based in Cambridge who are working with colleagues all over the world.