'What's wrong with our son?': Two-year-old boy leaves doctors baffled with his rare and undiagnosable condition

A two-year-old boy who suffers with a severe facial deformity and may never learn to walk or talk has baffled doctors with his undiagnosable condition.
Despite suffering with a number of distinct symptoms, medical experts are unable to pinpoint exactly what is wrong with Aidan Jackoviak Smith.
His mother, Vikki, 40, says that specialists are now forced to work out what is wrong with him by a process of elimination as test after test comes back negative.

Parents Vikki and Karl Smith had no idea that there was anything wrong with son Aidan when he was born eight weeks prematurely on Boxing day 2010. But they soon discovered he had been born with a grown and after three weeks he began fitting

‘At first they thought it was Proteus Syndrome, but after a biopsy six months ago, the results came back negative,’ Vikki told ITV’s This Morning. ‘But now they think it might be CLOVES syndrome.’
Proteus Syndrome is a genetic condition that John Merrick, the Elephant Man, suffered from.
CLOVES Syndrome is also a genetic condition and causes blood vessel, skin and spinal abnormalities.

Aidan was born eight weeks prematurely weighing 4lb 10oz on Boxing day 2010 after an uneventful pregnancy.
He was immediately whisked away by nurses at Newcastle’s Royal Victoria Infirmary because he was premature.
Vikki and husband Karl, 35, had no idea that their newborn son was in fact very ill with a rare condition.
Aidan had been born with a growth on his face, back and leg and three weeks later he started to experience seizures with alarming regularity. Doctor then broke the news that he had suffered brain damage. 

Karl said the enormity of the his son's situation hit him when doctors told him Aidan was brain damaged and may never learn to walk or talk

When Daniel, 13, (right) was asked what it was like to have a brother like Aidan, he said: 'It's just the same to have him as a brother. I look past what he looks like. He's my brother'

‘That’s when it hit home,’ said father Karl. ‘The enormity of it hit me when the words ‘brain damage’ were mentioned.
'We realised he might never walk or talk and were worried he would never recognise us. It’s just terrifying.’
The parents, who also have a son called Daniel from Vikki's previous marriage, were also overwhelmed when doctors gave them CPR lessons in case Aidan stopped breathing.
‘You suddenly realise the responsibility of the little life you are looking after,’ explained Karl.

THE BOY WITH THE MYSTERY ILLESS: WHAT COULD AIDAN'S CONDITION BE?

Doctors are unable to work out what is wrong with Aidan and are hoping to diagnose him by a process of elimination.
At one point they thought he suffered with Proteus syndrome, a genetic condition that John Merrick, the Elephant Man, suffered from. But tests came back negative.

Now they believe he may suffer with CLOVES Syndrome. There are only 130 people in the world known to have the condition.
CLOVES stands for for Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevis Spinal/Skeletal Anomalies/Scoliosis.

It was discovered in 2006 by Boston doctor Ahmad Alomari. Dr Alomari reviewed decades of data and photos of children who had been given different diagnoses for a specific combination of symptoms.

Although the cases were rare, he noticed a definite pattern when comparing them.

In 2009, Dr Alomari published a paper describing his findings which established CLOVES syndrome as a recognised disease.
There is currently no test for the condition and doctors must rely on recognising the symptoms to make a diagnosis.
Symptoms include skin, limb, torso and spinal abnormalities such as like fatty masses or scoliosis (spinal deformity).

There can also be vascular (blood vessel) abnormalities such as a birthmark too.

It is not entirely clear what causes CLOVES syndrome but experts have discovered that up to 60 per cent of cells in patients' affected tissues contain mutations in a gene called PIK3CA.

There is no known cure for CLOVES but many of the associated problems can be managed or prevented successfully with the right medical and surgical care.

Council housing finance officer Vikki, 40, admitted she never wanted a mentally and physically disabled child.
‘I always thought I was a bit superficial, I knew some people could cope with a disabled baby, I just never thought I was one of them,' she told the Mirror.
‘But thanks to Aidan I’ve discovered I can because he gives me so much love and I know he loves his family to bits,’ 
For Aidan’s parents now, the biggest worry is the unknown – not being able to put a name to his condition.
‘You wake up and try to work out if there is something different [in his symptoms]. But he’s proved to us he’s a fighter,’ added Karl.
The family remain positive, especially as their fear that Aidan would never recognise them has not been realised.
Vikki said that Aidan recognises exactly who they are and that his face lights up when he sees his parents after a day at school.

Aidan's parents said they were worried he would be so brain damaged that he would never recognise them. But thankfully, their fears haven't been realised and his face lights up when he sees them. He also laughs and blows kisses to them

‘He blows kisses, laughs and giggles,’ she said. 'We hope that once day he will walk and talk.’
Aidan is due to undergo facial surgery at Great Ormond Street Hospital in August this year.
Later in the interview, half-brother Daniel, 13, is asked how it feels to have a little brother like Aidan.
He responded: 'It’s just the same to have him as a brother. I look past what he looks like. He’s my brother.’
Vikki and Karl also explained how ignorant members of the public can be when they see Aidan for the first time.
Karl recalled one incident at the British Museum when a person came up very close to Aidan to look at his face.
Karl then pointed out the the inquisitive man that the 'artifacts were on the wall and not in the pushchair.'
But Karl added that he doesn’t want to come across as 'bitter and twisted' and said that he does his best to try and ignore insensitive onlookers.

The family remains upbeat despite the emotional and financial strain that Aidan's illness puts on the family. They say that Aidan's arrival has been difficult but it has also been a blessing

The parents said in a previous interview that Aidan’s condition has not just been an emotional drain but have provided financial problems too.
Karl was forced to give up his job as a salesman to become Aidan's full-time carer and Vikki has taken a 20 per cent pay cut to her £25,000 wage after switching from full-time to a four-day week to help with Aidan.She also fears she may be made redundant.
Aidan still needs nappies and has to be fed baby food, which push up the family’s living costs.
The couple are £10,000 in debt on their credit card and Vikki said without a definitive diagnosis they cannot approach the right charity for help or even set up an internet JustGiving page.
Vikki added that because they don't know if Aidan will ever walk, their house may be unsuitable for them once he’s too heavy for them to carry him upstairs to bed.
'If I lose my job we will lose this house. If we knew what Aidan’s problems are I’d at least feel there was some progress. But I do know that I love my son and just want to do whatever I can to give him the best possible life.'

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