Kidderminster mother calls for Rare Disease Day support

RAISING AWARENESS: Maffucci Syndrome sufferer Tor Leak-Jones.

Buy this photo RAISING AWARENESS: Maffucci Syndrome sufferer Tor Leak-Jones.

First published in News
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A MOTHER-of-two who is one of only 200 people reported to have suffered with Maffucci Syndrome hopes that more research can be carried out into the extremely rare disease.

Tor Leak-Jones, of Kidderminster, was diagnosed with the rare bone and skin disorder when she was 17 after being originally diagnosed with Ollier's Disease at 18 months old.

She hopes to fund more research into the disease by hosting a family fun event in aid of the SCAT Bone Cancer Trust on Saturday at Wilden All Saints CofE Primary School as part of Rare Disease Day.

Miss Leak-Jones, 33, said: "My consultants have said they had only seen one or two patients who have got a tumour at the base of the skull the same as me. It's scary, even the professionals haven't got all the answers.

"Nobody's affected the same. I'm only affected on my left-hand side and other people are affected both.

"When I was 18 my tumour became malignant. I've had a few amputations, including my little finger, and I've had to have two leg lengthening operations."

The condition also causes blood vessels to gather, known as hemangiomas, in Miss Leak-Jones' organs. A recent painful build up in her liver meant she had to leave her job as a classroom assistant at Chaddesley Corbett Primary School.

She added: "It was another hurdle and another shock of finding out that these hemangiomas are building. I'm waiting to see a liver specialist. I'm feeling a lot better now but they don't know if it could happen again.

"My condition puts a lot of pressure on my right side as well as the day to day pain of the left hand side. The right side is over-compensating.

"When you stop and think about it, you have got this condition that does make your life very different and it's not just physically, it's mentally. Mentally, I've struggled since I was about 15.

"It's coping with the condition that makes you look a bit different, made you miss school and have lots of operations and hospital visits.

"Managing pain every day is exhausting in itself. I've got two children, there's no time to sit down or have a sleep."

Rare Disease Day is a global initiative taking place tomorrow that aims to raise awareness of rare diseases and the impact they can have on sufferers and their families.

The family fun event in Stourport will feature face painting, a raffle, name the teddy, a singer and pianist, an auction and karaoke from 6pm.

To donate search for SCAT bone cancer trust page at and note the donation is for Maffucci Syndrome.

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