AN “EXTREMELY rare condition” has been identified which affects only 110 people around the world and only 16 in the UK.

Yet three of those cases of Myhre syndrome have been diagnosed in young Bury schoolgirls. One of those is Sophia O’Malley.

When her mum Eileen took her to the doctors looking for answers a decade ago they were met with only blank faces and head scratching. Doctors just could not figure out what was affecting the now-11-year-old schoolgirl.

After months of searching, medics uncovered the explanation and in 2012 Sophia was diagnosed with the extremely rare connective tissue disorder.

At the time of her diagnosis Sophia was believed to be the first in the country recognised to have the condition.

However seven years on, shockingly, at least three people in Bury have been diagnosed with Myhre syndrome, all young schoolgirls.

The condition is characterised by short stature, hearing loss, characteristic facial features, mild to moderate intellectual disability and various bone abnormalities.

Ms O’Malley said: “Myhre syndrome is so rare that many geneticists don’t know much about the condition. A lot were just Googling it.

“Our aim is to support families, raise awareness with clinicians and ultimately pave the way towards research for this condition in the UK and Europe.”

Nick Meade, director of policy at Genetic Alliance UK, said he was unable to comment on the frequency of Myhre Syndrome diagnoses in Bury. However he added: “With rare diseases it is important to ensure that there is a pathway to support and being put in touch with good quality information about the condition and specific services within the NHS to treat it.”

Lisa Bradburn’s daughter Daisy also has the condition, but she says she struggled to find out about the disorder, ultimately forcing her to rely on social media.

Ms Bradburn said: “Without the Facebook group I don’t know what I would have done.

“But social media isn’t accessible to everyone and it’s not just me who struggled to find information. That’s why the patient advocacy group is so important.”

Jodie Dean’s daughter Carmen was sadly diagnosed late as a result of poor understanding of the disorder.

Ms Dean said: “Maybe other people don’t know about the condition like we didn’t.

“Eileen has been brilliant – she has been at the forefront of what we’ve been doing. She’s a great support and someone I go to for advice”

Later this month, in a bid to deliver a knockout blow to ignorance about the rare genetic disease, Ms O’Malley is preparing to get into the ring.

The 42-year-old will don a pair of boxing gloves for a unique bout hosted by White Collar Boxing to fundraise to boost support and awareness for people who may not even know that the condition exists.

This includes setting up a patient advocacy group and a website to offer information to families and medical professionals alike.

In the run up to the fight she has embarked upon eight weeks of intensive training before she puts her jabs, uppercuts and hooks to the test at Bowlers Exhibition Centre in Manchester on November 29.

She said: “I wanted to take part in something that would really challenge me to raise money for our Myhre families.

“The training pushes us to our limits – especially “hell week” – but the group I have joined at Atherton are so friendly as we are in it for the same reason, to raise money for charity.”

Ms Dean said: “Eileen is a fantastic lady and I hope she raises loads of money and spreads awareness.”

Ms Bradburn added: “I don’t know how Eileen manages to find the time to fit in the training around everything else.”

To donate to Ms O’Malley’s campaign visit