World’s rarest boy set for revolutionary drug trial

Aidan Jackowiak Smith with his parents Vikki Jackowiak and Karl Smith. Picture by Jane Coltman.
Aidan Jackowiak Smith with his parents Vikki Jackowiak and Karl Smith. Picture by Jane Coltman.
  • Aidan, four, to undergo Cambridge drug trial
  • Youngster suffers from Cloves Syndrome
  • It could mean no more risky surgeries

The loving parents of a little boy from Northumberland with an extremely rare medical condition have taken the tough decision to embark on a revolutionary drug trial in a desperate bid to improve the life of their young son.

Aidan Jackowiak Smith, four, suffers from the complex genetic disorder Cloves Syndrome, which has only been diagnosed in around 150 people worldwide.

Aidan Jackowiak Smith. Picture by Jane Coltman.

Aidan Jackowiak Smith. Picture by Jane Coltman.

The Alnwick lad is at the more severe end of the spectrum, suffering huge swelling to his face and body, as well as enduring regular seizures.

Dubbed the world’s rarest boy, the brave youngster has already undergone major surgery, having 319 grams of fat removed from his neck and face during a six-hour operation in 2013.

But more recently, his doting parents Vikki Jackowiak and Karl Smith were confronted with a tough dilemma – to put their little soldier through more surgery, targeting either his back or brain, or to place him on a pioneering trial using the drug sirolimus.

The medication, widely used in transplant surgery, is not yet licensed to treat Aidan’s condition, but the research team in Cambridge, headed by doctor Robert Semple, believes that it could help the youngster by turning off growth signals in the cells that cause lumps in his face and back.

Aidan Jackowiak Smith pictured in 2013 with Vikki, Karl and brother Daniel. Picture by Jane Coltman.

Aidan Jackowiak Smith pictured in 2013 with Vikki, Karl and brother Daniel. Picture by Jane Coltman.

If it works, it would stop and/or reduce Aidan’s swelling and remove the need for any further risky operations. It could also treat Aidan’s epilepsy, by reducing overgrowth in his brain.

It was a tough call for his parents to make, but they have opted to go down the sirolimus route.

Karl said: “Aidan can’t tell us what he wants us to do, so we have to make these decisions for him.

“Putting Aidan through his operation in 2013 was heartbreaking, so if the drug works, it will mean that Aidan will not need any surgical intervention.”

Aidan with Vikki and Karl during their live interview on ITV's This Morning on Monday.

Aidan with Vikki and Karl during their live interview on ITV's This Morning on Monday.

Vikki added: “It would be fantastic if the drug works, we are praying it will. If it doesn’t, he will have a lot of surgery ahead of him.”

Aidan is due to start the trial in July and his parents will know by the end of the year if it is working.

Speaking about the revolutionary treatment, Dr Semple said: “We know of some other children who have been treated independently of this study and all of the signs have been encouraging and there have been some spectacular responses in some cases.

“I think we have sufficient confidence that sirolimus is likely to do good, with very acceptable side effects.”

The inspirational tale of Aidan and family, which includes his caring older brother Daniel Jackowiak, was captured in a heartwarming documentary on Channel 5 last night.

Entitled Aidan: The Rarest Boy in the World, it followed Vikki and Karl on their incredible quest to save Aidan’s life and featured their recent eye-opening and informative trip to Boston, America, to meet other Cloves sufferers and medical experts in the field.

On Monday, the family were guests on ITV’s This Morning programme, following their appearance in 2013, and were interviewed by presenters Phillip Schofield and Amanda Holden.

Karl admitted that a few tears were shed as the family watched Tuesday night’s touching documentary about their incredible journey with Aidan, who was born on Boxing Day 2010.

And he told the Gazette that the reaction from the public after the film was aired on Channel 5, coupled with Monday’s live interview on This Morning, has been amazing.

Karl said: “There were a few tears during the documentary and it made you realise how far Aidan has come.

“It was nice for people to see how we cope and manage as a family and see just what is wrong with Aidan.

“I think the whole of Northumberland and the majority of Newcastle – where my family are from – were watching on Tuesday night.

“The response has been unreal. There have been so many messages of support on Facebook and people have approached us in the street to give their best wishes.

“It makes us feel really lucky to be part of Alnwick. We have also received support from further afield.”

The Northumberland Gazette first told of Aidan’s ordeal in May 2013, when he was two years old and his family were still searching for a diagnosis.

The youngster was eventually diagnosed with Cloves Syndrome in 2013, following a long-running pursuit by medical experts, spanning more than two years, to find out exactly what was wrong with him.

His battle touched the hearts of our readers and a community fund-raising appeal led to thousands of pounds being collected for the family, helping to pay for costly and regular hospital trips, including to Newcastle and London.

Last summer, the Gazette teamed up with Alnwick-based MKM Building Supplies to launch the Aid For Aidan appeal. The DIY SOS-themed campaign was a community call to arms to help transform the family’s new Alnwick house from a dilapidated shell into a stylish home which was suitable for Aidan’s needs. It was a massive success and, thanks to the help of an army of local businesses, traders and residents, the family were able to move into the refurbished property in time for Christmas 2014.

But interest in Aidan’s story has extended past north Northumberland. In the wake of our story in 2013, papers around the world have picked up on the youngster’s ordeal.