When her longed-for first son was born, Caroline Wheeler knew at once he wasn't well.
The baby weighed a tiny 4lb 12oz and doctors told his frightened mother they had never before seen a child with his frame.
It wasn't until he was 15 that Lee, now 35 years old, was given an official diagnosis with the incredibly rare chromosome disorder diploid-triploid mosaicism.
The bubbly young man is the only person with the condition in Northern Ireland and one of just 67 in the world his mother says.
"There are four people in the Republic with it we believe," says Caroline, Lee's primary carer. "But for such a long time we had no idea what was behind all his problems.
"Looking back I have no idea how we all survived the first five years of his life because he could barely feed. We didn't sleep, we were at the hospital for investigations all the time. For such a long time we were in the dark, it was like feeling about in a feely bag for some information, which took a very long time to come."
Lee's condition, which gives his cells three chromosomes in addition to the usual two, means his 6ft 2in frame is condensed into a body almost two feet shorter.
Lee would not be here without the independence he has been able to enjoy. It has been able to enjoy. It has expanded his lifeCaroline Wheeler
His organs are compressed and, with issues including chronic asthma, scoliosis of the spine and learning disabilities, his needs are complex. Lee was also diagnosed with the respiratory condition COPD last year.
However, thanks to funding from the Independent Living Fund (ILF), remarkably Lee has been able to live alone since 2006 - something Caroline is convinced has extended not only the quality of his life, but his very life itself.
"Lee wouldn't be here without the level of independence he has been able to enjoy," says Caroline (53). "It has expanded his life. It's not like he has been getting away to palaces or having holidays on big yachts. But it means he can choose what time to get up in the morning, when to have a shower or to go out to the shops.
"If he had ended up in an institution the restriction that comes with it would have done a huge amount of damage. Living the life he has now, he's able to thrive."
Caroline is speaking out now because the Independent Living Fund, which provides financial support to around 440 disabled people across Northern Ireland, was closed to new recipients in 2010.
People like Declan McMullan from Downpatrick, who has Locked-In-Syndrome, would have qualified for the life-changing support prior to the change but have sadly missed out.
The funding, which is administered by the Scottish government on Northern Ireland's behalf, covers personal care at home, including social outings.
"It just feels really unfair that people in similar circumstances to us are being denied such incredible support," says Caroline, who now works as Lee's main carer and receives payment for her work.
"Because it has completely changed our lives. Now Lee can have a really fulfilling life, which is such a relief to all of us.
"He has a two-bed bungalow close to me and he has eight carers on a rota which means he is never alone. He is even in a relationship at the minute, so the pair of them can go for meals and to the cinema. It's something we never dared to hope for and it's just incredible for him."
Lee (who uses his father's surname, Martin), the oldest of three siblings, spent his childhood at special schools, while his family cared for him full-time at home. Caroline, who lives in Enniskillen, also worked as a classroom assistant for a time.
Lee's such a bubbly and sociable person despite the pain and discomfort he's in every dayCaroline Wheeler
"It was extremely difficult for all of us over the years," she recalls. "There is a huge strain on families with a disabled child because really the bulk of it does fall to you and for most of Lee's life I received no payment for being his carer.
"In around 2004, I had to be signed off from work because things really got to be too much for me. My own health began to suffer and I was diagnosed with irritable bowel syndrome, fibromyalgia and vertigo.
"It felt like I had everything under the sun. But all that time of course, even when I wasn't able to work, I was caring for Lee full-time at home. It's a lot to take on and it can be very isolating for families. That's why people need support, because without it, there will come the inevitable crash."
It was the jump from the support of special schools into the world of adulthood that exposed the huge gap in care for people with disabilities, says Caroline.
"When they're at school the support is very strong," she says. "There is a lot of funding and help before they're 18.
"But all of a sudden there's a real gap. You see it immediately for adults with a disability. They're seen as their age and not in relation to their ability, but that doesn't suddenly change when they become an adult.
"Yes, they might have an adult body, but in many ways they could have the capacity of a child.
"The need for support doesn't disappear."
Thankfully for Lee, the ILF, which supports adults aged 18 to 65, was open to applicants when he needed it.
Every disabled person is an individual and they have to be catered for in a way that suits themCaroline Wheeler
"It was near where I was living at the time and I was so relieved because I'd always hoped that one day he'd be able to live independently," she recalls.He moved into his first independent home in Ballinamallard, Co Fermanagh, aged 22, and Caroline remembers the milestone day vividly.
"He's such a bubbly and sociable person, that despite the pain and discomfort he's in every day he wants to enjoy his life.
"The day he moved into his first home away from me, one of his neighbours came around when he got the keys to welcome him and he gave her a hug.
"I just stood there with tears running down my face with relief, because I thought of what the alternative could have been for him.
"It's possible he could have stayed with me, but he may have ended up in an institution, and I honestly don't think he'd have lasted five minutes in a communal space.
"If he'd lifted the remote and someone told him off, he wouldn't have coped.
"I understand it works for some people, but like all of us, every disabled person is an individual and they have to be catered for in a way that suits them."
Lee now lives in a cul-de-sac of 10 houses in Enniskillen and carers, including Caroline, are with him on a 24-hour rota.
"He has a high instance of seizures, so Lee needs people in the house with him during the night as well in case anything happens," explains Caroline, who is backing calls for the ILF to be opened once again to new recipients in Northern Ireland.
"The situation he's in now means his life is relatively normal.
"He now spends a lot of time in a wheelchair, which wasn't always the case, and while he does have some learning disabilities in that he can't read or write, and he struggles with money matters, he is able to get his point across.
"He's a very resilient young man after everything he's been through, and if anything at all is bothering him he'll be right on the phone to tell me.
"The good thing about the arrangement we have through the ILF is that I'm still there through it all, I'm still his carer but I'm not doing it all on my own. It means his mother is still at the centre of it all, so I can do the extra bits he needs.
"If he needs milk, I can run to the shop and get it for him. I can be there in minutes if he needs me and I'm not restricted by the rules of work.
"The fact the ILF has stopped taking new recipients here in Northern Ireland - and has been axed completely in England - is a terrible shame, because it makes such a huge difference to people's lives."
A series of events has been scheduled across Northern Ireland in March to discuss the possibility of reopening the ILF here. The events, at the Everglades Hotel, Londonderry on March 19, Killyhevlin Hotel, Enniskillen on March 20, La Mon Hotel, Belfast on March 27 and Newry Leisure Centre on March 30, are open to everyone. The ILF is keen to hear from anyone who has a disability, their family and carers as well as disabled people's organisations. Register for the events at www.ilf.scot/northernireland