Words by Smiley Team
When a family member is diagnosed with a rare genetic disease it can lead to feelings of fear, confusion, isolation for their loved ones.
Research has shown that on average a patient with a rare disease will typically consult with five doctors, receive three misdiagnoses and wait four years for their final diagnosis.
This was the case for Danielle Singleton when her husband Dave, a police officer and keen rugby player, was diagnosed with the rare genetic condition adrenomyeloneuropathy in 2012.
Their couple’s experiences led them to set up The Sandcastle Trust, a charity that provides short breaks, days out and attraction passes for families where children or adults have been diagnosed with a rare genetic condition.
Danielle explained: “After Dave’s diagnosis we quickly realised that his condition would mean we would have to navigate all manner of financial and physical challenges when planning days out or holidays for our family.
“There is a significant body of academic research that highlights the positive impact that holidays and spending quality time together as a family have on health, wellbeing, happiness and quality of life.
“This is especially important for families, where a member has been diagnosed with a rare genetic condition as the physical, emotional and financial strain, can often tear families apart.
“That is where the idea of the Sandcastle Trust comes from. We hope to help other families like ours who are affected by rare genetic conditions create positive family memories through holidays, day trips and respite breaks.”
The restrictions brought in by the pandemic mean that many of the short breaks and day trips provided by the Sandcastle Trust have not been possible in 2020, but they have adapted to help families create special memories together at home.
Six-year-old Carmela Chillery-Watson has LMNA Congenital Muscular Dystrophy, a rare genetic condition which causes muscle weakness which can lead to problems with the heart and breathing difficulties.
The charity arranged for a hot tub to be delivered to the family’s home in Devizes, Wiltshire, which Carmela loves splashing about in and which also helps with her physiotherapy.
Carmela’s mum Lucy said: “Relaxing in the hot tub gives Carmela a sense of weightlessness, it’s a place where she has more control of her body too.
“We always try to make the most of the time we spend together as a family, and the hot tub has really helped us to achieve that.”
The Sandcastle Trust need donations to be able to help even more families. To find out more visit their website or follow them on Twitter or Facebook.
