A Market Harborough family is hoping that an exciting medical breakthrough could eventually help their eight-year-old son.
Milosz Leski, who goes to St Joseph’s Academy in the town, has a rare muscle weakening disease called myotubular myopathy.
The disease affects every movement he makes, from his walking to his breathing, and exacerbates infections like a simple cough.
Milosz is already a survivor. Eighty per cent of children with his condition die before their first birthday.
But his parents Michal and Monika are hopeful that a recent breakthrough in the world of muscle disease means there is now real hope of a cure for Milosz.
Speaking out this week on Rare Disease Day (February 28), dad Michal (34) said: “Research has found that gene replacement is effective in animals.
“We really hope to see proper clinical trials take place on humans, and a cure to be successfully confirmed.”
An infection has kept Milosz off school for the last four weeks, said mum Monika (38).
“Obviously that puts a lot on us, to intensify all the care and the physiotherapy, to make sure it doesn’t develop into a more serious infection” she said.
But both parents are excited about the possibilities of a cure for muscle diseases like Milosz’s myotubular myopathy.
Most recently, tests on dogs with the same disease have shown them make a remarkable recovery.
“Yes, we are very, very positive” said Michal. “We are thinking that - yes - this treatment is something that will come true.
“We hope for the best but at the same time we try to be practical.”
Monika said: “The disease affects Milosz’s mobility and it affects his eating and drinking.
“At the moment, he doesn’t need breathing support at night, but he may need it as he gets older.”
World Rare Disease Day is an annual observance held on the last day of February.
The idea is to raise awareness for rare diseases and improve access to treatments for individuals with rare diseases and their families.
Milosz’s disease affects around one in 50,000 children, mainly boys.
But because the disease is comparatively unusual, money-raising is difficult and progress on treatment can be slow.
A spokesman for the Myotubular Trust said: “The exciting news is that there are recent and major breakthroughs in the world of muscle disease, that means there is real hope of a cure.
“The problem remains raising enough money to translate these broader discoveries into results for very rare conditions, like the one that Milosz has.
“Please consider making a donation to the Myotubular Trust to bring forward the day when a cure, or treatment, can be found for boys like Milosz living with myotubular myopathy.
You can donate to the Trust at www.myotubulartrust.org