Fibrodysplasia ossificans progressiva, or FOP, is a progressive genetic condition which causes sufferers to grow what is almost a second skeleton, crushing their internal organs. There are only 45 known cases in Britain and as yet no cure.
But it was announced yesterday that victims of FOP have been offered fresh hope following a 330,000 donation which will pave the way for the creation of a dedicated research group at Oxford University, the only institution in the UK which is studying the condition.
The donation has been made by Richard Simcox, the managing director and main shareholder of Roemex, a Portlethen-based oil service company which supplies speciality chemicals to the North Sea oil and gas industry.
Mr Simcox, who first took an interest in FOP 15 years ago when he became aware of two children with the condition in the North-east of Scotland, is also president of Action FOP UK, a forum for people who are suffering from the condition.
He has agreed to donate 110,000 towards the creation of two dedicated FOP research posts at Oxford University where scientists have already identified the gene responsible for it. He has also guaranteed to underwrite the remaining 220,000 cost of the three-year research posts, establishing a UK group focused solely on the condition for the first time.
Mr Simcox said he hoped his donation would raise awareness of the rare condition and stimulate further donations and fundraising efforts.
He said: "I am delighted to see something happen in FOP on these shores. At Oxford, we'll be able to get something going, something real and tangible.
"Now that the gene for FOP is known, researchers can focus on looking for a cure."
Professor James Triffitt , who is leading the Oxford research, praised the oil executive's support.
He said: "It is very difficult to get research grants to study rare diseases, so the generosity of individual donors is what keeps work like this going.
"This donation will make a great difference. It will create a research nucleus in Oxford to understand the changes that occur in FOP and search for potential therapies. Without it, it would be impossible to have this intense research activity on FOP, one of the most disabling conditions that any patient can get."
The donation was also praised by Marian Granaghan, whose daughter Seanie, 14, was diagnosed with FOP in 2008.
Mrs Granaghan, from west London, said: "The donation is great news.
"This is my dream – one day there will be a cure or, if not a cure, a tablet that stops bone growth. This would mean that Seanie and everyone affected with FOP can be operated on and the excess bone taken away to get their movement back."
'I live in hope that something can be done'
LOUISE Wedderburn, a 16-year-old from Fraserburgh, is one of only two Scots known to be suffering from FOP.
She was first diagnosed as suffering from the rare illness when she was only three following an accident in which her left arm locked at her side.
It has been locked in that position ever since. As a result of her condition, ribbons of bone have also formed across her body. But two months ago the brave teenager defied the illness that has blighted her life to go to her school prom at Fraserburgh Academy.
Her mother Ciona said: "Louise's condition has worsened over the years. She can be fine for ages and then she will have a flare up.
"Her left arm has been locked in the same position since she was three and ribbons of bone have grown over parts of her body like a sort of second skeleton. Both her arms are now locked in different positions.
"But she is incredibly brave. And she is still able to get about. She tries her best. And we are very proud of her.
I live in hope every day that something can be done for Louise."