The children living with the world’s rarest diseases

By Beth Rose for BBC News. Published online: 29 February 2016

Imagine having a disease so rare it doesn’t have a name – or even another sufferer. On the rarest of days – 29 February – three families mark Rare Disease Day.

  • A rare disease is defined as affecting fewer than one in 2,000 people
  • 80% of rare diseases have genetic origins, whilst others are the result of infections, allergies and environmental causes
  • There are often no existing cures
  • 30% of rare disease patients will die before they are five years old

Source: Rare Disease Day


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Image source: Micah Baldwin

Currently there is no central database listing every rare disease, although Public Health England is developing one. Meade says this will bring the same level of surveillance as in the cancer world, and bring detail which will aid understanding.

It took the Torrances three years to get their youngest son Dylan, now 12, diagnosed with Partial Triplication 15 – a mutation of his 15th chromosome. It is an illness affecting only 19 people globally, and he is the only person to have this specific defect. His mum, Janie Torrance, says she was pleased with the diagnosis “because it was doing my head in that no one knew what it was”. The condition is so rare it hasn’t been given a name. The received diagnosis is just a straightforward description of what’s happened to his chromosome.

“The first thing you try and do is find someone else with it – and to be told there was no-one was quite a blow.”

Each person has 23 pairs of chromosomes. On Dylan’s 15th, one of the pair is longer and that region has been triplicated. It’s this rare situation which causes all the problems.

Read the full news story here

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