1 in 20 of us will live with a rare disease at some point in our lives. However, there is no cure for the majority of rare diseases and many go undiagnosed.
Rare Disease Day (which is today) helps to improve knowledge amongst the general public of rare diseases, while encouraging researchers and decision makers to address the needs of those living with rare diseases.
Five years ago (next week) my niece, Isabelle was born with a rare condition called BPES (Blepharophimosis Ptosis Epicanthus Inversus Syndrome) – a genetic disorder affecting most notably the eyelids which tend to droop. Some children are misdiagnosed with Down’s Syndrome when they are born, as the eyes can look similar. BPES affects one in 50,000 people, both male and female and can cause fertility problems later on in life for women.
Isabelle is a very outgoing, confident little girl (as you can see) and is being brought up to have the confidence to understand that whilst she may look a little different, she can do everything everyone else can and as far as we know she should develop at the same rate as other children.
By raising awareness of this rare disease, people will hopefully start to acknowledge what it is when they see children like her and be able to explain to their children what is wrong when they ask why she looks different to them.
Isabelle wants to be a princess when she grows up and although she has a rare disease, there is nothing to stop her from fulfilling her dreams.
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