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A fundraising campaign has been launched to help a disabled mum of two get treatment for a bone disease that is so rare, she is the third person worldwide to have it.
Samantha Tregunno, 32, of Thornbridge Road, Deal, was diagnosed with acute translucent osteoparosis, affecting her hip, last August.
A year down the line, she has been demoralised by being forced to give up work, she has “lost months” because of a dosage error in her morphine, and she has to fight the tears when thinking of the effect it has on her daughters.
Her condition means a shortage of bone marrow in the ball and socket joint of her hip causes constant agony and stabbing pains down her leg.
Her illness is so rare, hers is only the third known case in the world and the only one in the UK.
"If they can treat me, I can get back to work and start living normally," Samantha Tregunno, 32
Doctors and specialists have even had to Google it before experimenting with pain relief.
“At first they thought it was a slipped disc,” she said. “We took the kids to Haven in Hastings and I woke up in pain and was limping around.”
But Sam, who does not like fuss, carried on regardless going to work and trying to adapt.
When fiance Tristan made her go to the doctors, she was told she would be healed within 13 weeks.
When she didn’t get any better, investigations started, and her rare condition was diagnosed after she had two types of MRI scans.
Sam was under an NHS bone specialist for almost a year, seeing him every week.
He was convinced they could find a remedy, but she said she was discharged having got no real answers.
In limbo with no light at the end of the tunnel, she is desperate to get her life back.
Tristan has given up work to care for her, and all she wants is to live a normal working life.
Her only hope was to get a second opinion by private consultants at the Benenden Hospital, and the community got behind Sam by raising £1,200 at a fundraising day at the Three Horseshoes in Mongeham on Bank Holiday Sunday.
It was enough to pay for the consultation.
Sam said: “The specialist was fantastic. He did more then than the others did in a year.”
In that short time she was thoroughly examined and the next step is an arthrogram MRI.
Thanks to the funds raised at the fun day, the cost of this latest MRI will be partly covered, and it should give her the answers she needs, telling her what treatment she can have. It will also enable other doctors around the world to know how to successfully treat the condition, for others who get the diagnosis.
But it is likely Sam will need a complete hip replacement before she can start living a normal life again.
That’s why her mum, Michelle Lee, has started a new fundraising campaign to pay for any exploratory tests that are needed and eventually for life-changing treatment.
Sam said: “We don’t have a clue how much any of this will cost.
“We haven’t had quotes yet, but if they can treat me, I can get back to work and start living normally with my family.”
You can donate to help Sam get life-changing treatment by visiting the online fundraising page. Click here: www.gofundme.com/222cd3js