About Amy and Friends
Amy and Friends is a registered charity who supports children and their families with Cockayne Syndrome (CS), Trichothiodystrophy (TTD), and other related disorders.
All are rare genetic disorders with an average life expectancy of 12.4 years.
Each year, we have a Medical and Familes conference attended by families and specialists from all over the world. We make memories and have a jam-packed itinerary. In many cases, it is the first and last time families will meet.
Twice monthly, we support families down to the Rare Disease Clinic at Guys and St Thomas’ NHS Foundation Trust. Here, families are able to see up to 10 specialists, including neurologists, geneticists, dermatologists, and dietitians, to name a few.
Daily we offer a buddy support were families are able to ask any question/queries they may have, we also provide information, advice, advocacy, respite when available and take part in medical research/trials.
On Rare Disease day 2023, we are holding a cake sale at Guys and St Thomas’ NHS Foundation Trust.
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