Inspirational Fermanagh man Lee Martin suffers from an extremely rare syndrome - Diploid Triploid Mosaicism.

The 29-year-old from Ballinamallard, who celebrates his 30th birthday next month, December, is only one of 67 people in the world to have been diagnosed with this rare chromosomal abnormality.

“It looks like he is the only one in Northern Ireland,” believes his mother Caroline Martin, who is aiming to bring the world’s sufferers together at a conference in the United States of America in April next year.

Up until January 31, this year, she hadn’t known there were 65 other sufferers (one more has since been diagnosed) and she admits she was “totally dumbfounded” but also “relieved” because she has been searching for so long. She believes there are now two people known to be suffering from this disability in the UK and four in the Republic of Ireland. “How many more are out there I do not know,” adds Caroline, in reference to those registered.

Lee was 15 and a half years old when he was diagnosed at the City Hospital in Belfast. Caroline says at that time her family ”did not know of anyone else.” She highlights that a child with the full-blown condition will be unlikely to survive and she points out there are different degrees of it. Lee’s cells are half normal and half with the syndrome, she explains.

The young man, who has a younger brother Dwayne, 25, and a 17-year-old sister Zara, demonstrates many of the signs and symptoms of Diploid Triploid Mosaicism. They include delays in growth, truncal obesity, body/facial asymmetry, weak muscle tone, webbing or fusion between some of the fingers or toes, intellectual disability and behavioural problems.

In relation to Lee’s height, his mother says he measures four foot five despite having a 6ft. two inches stature.

His organs are compressed, indicated Caroline, who mentions that her son suffers greatly from recurrent chest and kidney infections, and he also suffers from fluctuating weight difficulties.

The young man, whose spine has fallen by two centimetres in the last year or two, is also currently awaiting a gall bladder operation.

A severe asthmatic, Lee suffers from allergies triggered by perfume, dust, smoke, flowers and plants. “He would go into a full-blown asthmatic attack in seconds,” said his mother.

Living independently since 2007, Caroline regards her son as being “on a journey in life.” She speaks of the source of “inspiration” he is to others.

She adds “he would be in severe pain but he is very robust” and she says he does not let the condition control him; “he controls it.” Lee turns 30 on December 3, 2014, and he is looking forward to his 30th birthday party in the Killyhevlin Hotel, Enniskillen. The event, which is open to everyone, will serve as a fundraiser in aid of Lee’s trip to the Conference in the US, where the majority of sufferers live. Tickets cost £35 for the carvery and entertainment or people can pay £15 to share in the musical programme. Seventy-one donations have been received to date towards the raffle.

In conjunction with arranging the upcoming 30th birthday party, Caroline is very keen to raise awareness of the syndrome, which she stresses remains relatively unknown here. “How many more could be suffering?” she asks. She herself had initially thought her eldest son was presenting symptoms of Prader-Willi Syndrome and Down’s Syndrome, but she admits “the jigsaw was not completely on the table.” Despite his condition, Lee is described by his mother as “a very happy person; it has never held him back.” Even in her darkest days, she mentions that “Lee said Mummy it will be OK.” She acknowledges that he is “always on the sunny side of life. He is totally my inspiration.” Madison McCall, a parent of a six-year-old sufferer in the States, is joining forces with Caroline and other fellow organisers to arrange the upcoming World Conference.

“It will be the first conference in the world,” indicated Caroline, who adds it will be held in Houston, Texas from April 10 to 12. Caroline and Lee will be joined by Dwayne and Zara at the event.

She wants “to link the world” when it comes to Diploid Triploid Mosaicism. Now that she can relate to other sufferers and their families is very important. “We can feed off each other,” she said, adding that for 15 years she “did not know any other sufferer. It is such a relief that you are not on your own,” She stresses the importance of communication and how she is sharing with others through the internet. For her this knowledge has been a life-saver and she feels that Lee is proving an inspiration to other children suffering from the condition.

Blogs of him in his own home - living a normal, independent life as an adult - demonstrate the quality of life he experiences. Round the clock care is provided for Lee through carers from the Western Trust; his parents - Keith Martin and Caroline Martin - also provide free care as well.

“We fill in the gaps,” said Caroline, who acknowledges the help that he now has through his care package.

She disclosed: “It took a long battle to get his care package in place which I think should be made a lot easier for people suffering on the ground. We are very appreciative. Lee would not have the quality of life he has without his care package.” She describes it as “a complete ripple effect for both Lee and his family and those in the community who support Lee.” The upcoming 30th birthday celebrations at the Killyhevlin Hotel on December 3, start at 7pm; the programme of entertainment features a host of well-known entertainers. A few days prior to the function, there will be a fundraising cake sale at the Diamond, Enniskillen, from 9am to 2pm on Friday, November 28. Caroline can be contacted on 07845600375 for details about the events or for information on the syndrome.