A Russian mother has spoken about the “bone chilling” diagnosis that means her two-year-old son is turning into a “living stone statue”.
Svetlana Pavlenko, 41, was told by doctors that her boy Timofey – or Tim – has Stone Man syndrome.
There are around 1,000 registered patients who suffer from fibrodysplasia ossificans progressiva (FOP) and an estimated one in two million people are prone to the disease.
Supporters are now raising funds so her son can receive specialist treatment from some of the world's top experts.
His desperate mum said: “Timofey is our youngest child, our much-loved little boy."
“He was born healthy.
“The only tiny concern was that his big toes were a bit curved, but doctors said it wasn’t a problem.
“At the time we didn’t know that this was the first sign of Stone Man syndrome.
“In a month a lump appeared on his head.
“As he grew up, this lump moved down to his neck, shoulders and arms, limiting his movements.”
Medics in her city of Krasnoyarsk in Siberia were bemused about his condition and sent him 2,600 miles for treatment in Moscow.
Svetlana said: “No doctors could explain what was going on, until we travelled to Moscow where we heard the blood-chilling diagnosis of fibrodysplasia.
“He cannot raise or bend his arms.
“He can’t turn his neck, his back became curved and doesn’t straighten.”
Back home again, the condition is progressing and there is little that can be done to ease Timofey's suffering.
The determined mother is now raising funds to travel back to Moscow where a medical conference will be attended by the world’s leading doctors in this field.
“Little Tim’s parents know there is no cure for their son’s condition,” reported The Siberian Times.
“Surgery is not an option because it often stimulates the formation of new bones, and other treatments are not available.
“What they hope is to travel to Moscow to see the world’s two leading experts who study Stone Man syndrome, and meet other families of people affected by the disease.”
Svetlana said: “We have this unique chance to fly to the major fibrodysplasia conference held in Moscow at the of July.”
She is especially keen to meet US professor of Orthopaedic Molecular Medicine Frederick Kaplan, who led research that helped discover the fibrodysplasia gene.
Medical breakthroughs might yet assist Tim, though the condition normally leaves sufferers bedridden by the age of 20.
Life expectancy is around 40.
A top German doctor is also flying to attend the Moscow conference who Svetlana hopes to consult about her son’s disease.
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