Parents of young child diagnosed with Batten Disease says support for Sophie’s Story is enough to restore their faith in humanity
An Avoch footballer and his family say the outpouring of support after his daughter was diagnosed with Batten Disease is enough to restore anyone’s faith in humanity.
It has been a tough spell for parents Keith and Lizzie Mason, and their entire family, from Inverness, after daughter Sophie was diagnosed with the rare, incurable neurological disorder in November.
Only an estimated 15-30 children are living with Batten Disease in the UK each year, with possible symptoms including progressive vision loss, seizures, disturbed sleep, stiff muscles, myoclonic jerks, loss of motor function, loss of the ability to swallow and increased risk of respiratory infections.
The Mason family have also started up a Facebook page, called “Sophie’s Story”, to raise awareness of the condition – of particular importance given how scarce examples are, and how difficult Batten Disease can be to identify.
“Babies tend to develop ‘normally’ for the first 12 months and then development begins to plateau, and slowly regress thereafter – which is very true of our experience with Sophie,” Keith, who turned out for Avoch in the Inverness and District Amateur Football leagues last summer, and Lizzie reflected.
“Sophie was a very happy and healthy baby. In the first 12 months there were milestones that she obtained and others which we thought might just take her a bit longer to learn.
“At around 13 months we began to feel as though she had difficulty using her upper body. She couldn’t seem to push or pull herself up, and this was when the doubt and worry started to creep in.
“Between 14 and 17 months we started to get more concerned. A few things began to happen which indicated something wasn’t quite right: Sophie started to develop a sporadic body tremor, and it was difficult to tell if this was excitement or anxiety, or if it was something involuntary. There were also a couple of occasions where she seemed very limp or slumped in her high chair.
“We took her to see the GP who added the information to her referral to Community Paediatrics. A lot of the time we felt daft for being worried, as these traits could be explained away by other things like tiredness, feeling under the weather, a lack of motivation among other things.
“At 16 months Sophie started to show very early signs of toppling over from sitting. At this point we actually thought that she was trying to stand up and that she was throwing herself off balance – little did we know this was actually the beginning of her regression, and things began to unravel quite quickly.”
With Sophie now 21 months old the Masons are focusing on finding a balance between making the most of each day and attending medical appointments.
Every case of Batten Disease presents differently, which makes the next stage unpredictable. What kind of equipment will be required to support Sophie is still somewhat up in the air, although the family have already bought a mobility harness which will allow Sophie to take her first steps.
Plans to make lasting memories include bigger projects like going to Disneyland Paris and the Isle of Harris, and smaller activities like going to the zoo, the cinema and going on bike rides – adding to Sophie’s first time sledging as they made the most of this month’s wintry weather.
Aiding their plans will be fundraising activities, with Leo’s Pride, Inverness Caledonian Thistle Women, Lisa Coli Childminding and Avoch AFC all already having announced challenges and activities to raise money.
The main Sophie’s Story GoFundMe has already raised over £17,000, with any unused funds being donated to the Batten Disease Family Association (BDFA) and/or Children’s Hospices Across Scotland (CHAS), and both Lizzie and Keith say the level of support so far has been overwhelming.
“We would like to highlight how quickly her medical team have been pulled together since her diagnosis,” they added.
“The NHS tends to get a bad reputation for speed of response, but Sophie has an extensive list of services who have been mobilised to support her in her journey ahead – which we are so very grateful for.
“The fundraising aspect just unexpectedly took off after some of our friends and family said they wanted to fundraise for us as their way of supporting us.
“We have been hugely taken aback by the number of people who have contacted us since, offering to fundraise for Sophie. It’s just incredible and makes us quite emotional. We wish Sophie understood how many people want to help her.
“The support we have had has been phenomenal. From friends and family to the football community, colleagues and even people we have never met.
“So many people have wanted to help in anyway they can, suggesting fundraising ideas, words of support and offering an array of services to our family. It has been heart-warming and restores your faith in humanity – there are good people out there who just want to help.”
