A Highland footballer and coach has pledged to give his daughter the best life possible after she was diagnosed with an incurable disease.
Keith Mason, who has played for Inverness City, Nairn St Ninian, Avoch and Clachnacuddin and was most recently a coach with the Lilywhites, and wife Lizzie were shocked and heartbroken to discover that their 20-month old daughter Sophie has Batten Disease (CLN-1).
It is estimated only one to three children in the UK are diagnosed with the rare genetic conditionn each year.
The condition arises due to cells within the body not containing an enzyme called palmitoyl-protein thioesterase 1 (PPT1), which happens as a result of the CLN-1 gene, which produces the enzyme, being faulty.
If the PPT1 enzyme is absent or working poorly partly broken down fats and proteins build up in cell compartments within the body and this accumulation prevents cells from being able to work as they should and eventually leads to death.
Horrific diagnosis
Sophie was diagnosed with Batten Disease in November after a regression in skills she had learned, which triggered concern for Inverness couple Keith and Lizzie.
Describing what it was like to find out about Sophie’s diagnosis, Keith told the P&J: “Disbelief, heartbreak and shock.
“We knew that Sophie was behind in terms of development, and we were concerned that something wasn’t quite right, but she had been such a healthy and happy baby.
“Lizzie had a straightforward pregnancy and birth, and there is no noteworthy ill health in our family history, so we have really struggled to come to terms with Sophie’s condition.
“The day that we were given her diagnosis was horrific. To be told that Sophie has a condition that will take her life at such a young age was, and still is, unbearable.
“When the specialist explained what Batten Disease was, she said that it only affects around one child in Scotland every two to three years.
“According to the Batten Disease Family Assiociation, they estimate that 15-30 children in the UK have CLN-1 currently.
“To our knowledge there is no safe or approved treatment for CLN-1 and there are currently no clinical trials.
“As a parent it’s your natural instinct to do everything you can to protect your child, but in this case we can’t protect her from the disease.
“It’s part of her genetic make-up and without a treatment we are powerless to do anything.
“All we can do is love and care for her and try to give her the best life possible.”
Deterioration has started
Keith explained that even since the diagnosis Sophie has shown further regression and added: “When we were first given Sophie’s diagnosis we were advised that worst case we may only have two or three years left with her.
“We can only pray that the disease progression is slow in her case, but she has already started to show further signs of regression.
“On the surface most people probably wouldn’t even realise that she has a health condition.
“But she is now no longer able to sit up on her own, she struggles to feed herself, has limited functionality in her arms and hands and her movements are uncoordinated and jerky.
“Her eyesight has also started to deteriorate.”
Fundraisers organised
Since Keith and Lizzie went public about Sophie’s diagnosis in December a number of fundraising events have been set-up.
On Sunday February 23 a Clach legends team will take on an Inverness City legends side in a charity game at Highland Rugby Club’s Canal Park.
Meanwhile, in May Inverness Caledonian Thistle Women’s manager Karen Mason, who is Keith’s sister, and a group of current and former Caley Jags players will take on the three peaks challenge and attempt to scale Snowdon in Wales, Scafell Pike in Cumbria and Ben Nevis in 24 hours.
Full details of the various fundraising events can be found on the Sophie’s Story Facebook page. The money generated from these initiatives will be used to assist with Sophie’s care and to make her life as comfortable as possible.
Keith, 38, said: “Prior to Sophie’s diagnosis we had never heard of Batten Disease, so we imagine that a lot of other people haven’t either.
“Telling Sophie’s story publicly will hopefully help people understand what the condition entails.
“From a fundraising perspective, our primary focus is to make Sophie’s life as fulfilled and comfortable as we possibly can.
“As a family we will endeavour to create as many memories with her while she is still able.
“Yes her life may not be as we had expected, but we will make sure that Sophie gets to live her own unique story.”
Thanks to Clach
Keith stepped back from his role as a coach with Clach in the Breedon Highland League in December, but has thanked the Lilywhites for their support.
After being informed of Sophie’s condition the Clach squad pledged to donate their win bonuses for the rest of the season.
Keith said: “Clach has been in our corner since we found out about Sophie’s diagnosis.
“Conor Gethins (manager), Robbie Duncanson (assistant manager), Blair Lawrie (first-team coach) and Chris Stewart (chairman) have been keeping in touch, and they have told us that the club will support us in anyway they can.
“The players have offered their win bonuses until the end of season, the fact they were all willing to help speaks volumes for their character and we will be forever grateful.
“The youth set-up have offered to help with fundraising and the club has had collection buckets at the ground.
“The messages of support from people within the club and the fans have been touching to read.”
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