Northern Ireland

Ballinamallard man with rare 'mosaicism' to meet others affected for the first time

Lee Martin
Image caption Lee Martin suffers from a rare condition that has compressed his organs

A Fermanagh man who suffers from an extremely rare genetic disorder is about to meet others with the same condition for the first time.

Lee Martin, 30, from Enniskillen, is one of only 67 people in the world to be diagnosed with diploid triploid mosaicism.

He has cells with three chromosomes as well as the normal two chromosomes.

It means his 6ft 2in frame is squashed into a body nearly two feet shorter.

This has compressed his organs and left him suffering from chronic asthma.

He has spent much of his life in and out of hospital but he was only diagnosed at 15 years old.

At the time, he was the only person registered with the condition in the UK.

'Phenomenal'

His mother Caroline was told about one other child in Ireland with the condition but she was unable to make contact with them.

"For 29 years we've been sitting here thinking Lee is nearly the only one in the world with this syndrome."

It was only in January 2014 that she discovered Lee was not suffering alone.

Image caption Lee's mother Caroline said she hopes he will be an inspiration for others

"Through months of chatting on Facebook, I found out that he was one of only 67.

"So that was phenomenal to discover that Lee was such a unique number in the world."

She has helped to organise the first ever conference in Houston, Texas, for people with diploid triploid mosaicism

"It's the first time ever these kids have got to meet in a room together - so this is magic," Caroline said.

'Inspiration'

When asked what he was most looking forward to, Lee said "going on the big plane".

As well as raising awareness of the condition, it will be a chance for the families to share stories and to meet medical experts.

Caroline is hopeful Lee's story will also be an inspiration to others.

"Out of the whole 67 in the world, Lee is the only one living independently.

"They were just totally blown away that Lee had a quality of life, they couldn't understand how this all came about.

"So that's what they really want to know - how did I do it, what did I do to get the care package in, and the 24-hour cover for him.

"For him not to be living with his parents, to be an independent adult living on his own - they're blown away with that completely.

"Lee was never given to live to this age, he's had so many near death experiences.

"So it really is a blessing that he's here, and will now make his journey to America.

"Lee and I have discussed it and, if anything, Lee's life has always been about making this trip to raise awareness of his syndrome and to be an ambassador for diploid triploid mosaicism."

Lee suffers from chronic asthma and gets recurrent chest infections as well as suffering pain from a trapped nerve.

But Caroline added: "He still struggles on and gets up every morning and goes 'wow' if the sun's shining.

"He appreciates every day that he has here on earth."