Rare diseases affect fewer than one in 2,000 people, but there are around 8,000 of them, with more being discovered each week. That means over three million people in the UK currently live with one, and one in 17 of us will develop one during our lifetimes.
Some are quite well-known – like the respiratory disorder cystic fibrosis (with over 10,000 people on the UK Registry) and Huntington’s disease, a degenerative, neurological condition thought to affect over 5,000 UK adults. But the general public has never heard of most rare diseases and some only affect tiny numbers.
Three-quarters start in childhood, and most have a genetic link. There could be a single abnormal gene that may be dominant (so that if you get it from either parent, you get the disease) or recessive (where you get an abnormal gene from both parents – for example, in cystic fibrosis).
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