We also realise how important spending holidays with your loved ones is – this is something we all take for granted, which is why support an amazing small Charity called The Sandcastle Trust.  Each year we give away a week’s stay to this amazing charity, so that families can make memories.

A child, young adult or parent being diagnosed with a rare genetic condition has a profound impact on the whole family.  Although the features of specific genetic conditions differ hugely, the impact on the family lives of those affected are often similar and it is a sad reality that the physical, emotional and financial strain can often tear families apart.

A little bit of fun goes a long way. 

There is a significant body of academic research that highlights the positive impact that spending fun, quality time together as a family has on health, wellbeing, happiness and quality of life.  The benefits of a special day together or a simple break away are not short lived, they can offer holistic respite for the whole family, improve mental health outcomes and reduce stigma and social isolation. 

We share this belief and give away free week stays at Cowries, so families affected by a rare genetic conditions can enjoy family time in this wonderful part of the country. There are between 4,000 and 6,000 diagnosed genetic conditions (not including the thousands of people who live with an undiagnosed genetic condition).  Each diagnosed condition affects less than 0.1% of the UK’s population, but together they affect the lives of 3 million people.[1]  Collectively, therefore, they are not rare at all and the total number is increasing with developments in genetic research.

Life with a rare genetic condition can often be very bleak with little hope of a cure or effective treatments.  Some of the conditions are so rare there are often insufficient patients to participate in drug trials and in any event there tends to be a lack of appetite from pharmaceutical companies to invest in research when the market is so small.

Families containing a parent, young person or child with a rare genetic condition face significant barriers in their lives.  We hope that a week together can help them create lasting positive memories and strengthen their family relationships.

You can find out about the great work the Sandcastle Trust do here.