The family of a Tayside baby who “a cold could kill” have spoken of their hope of a cure.
With the opening of a fundraising shop in Carnoustie, one-year-old Blake McMillan’s family want to contribute towards a cure for the rare genetic disorder, of which Blake is among 150 cases in the world.
Blake was born in Ninewells last March, and Jenny and her husband Paul learned he had an extra chromosome after three weeks and was to be affected by Mecp2 Duplication Syndrome.
His mother Jenny, 36, from Longforgan told The Courier: “Just after he was born, the paediatrician said there was something not quite right as there was a catalogue of problems that didn’t add up.
“They said Blake would be profoundly physically and mentally handicapped, that we would probably not walk and there would be a host of problems.
“It is a very complex disorder but basically there is a tendency towards wild, uncontrollable epilepsy which happens in later years. What is a big killer is that there is also a tendency towards pneumonia and being very prone to chest infections. There’s also bowel problems.”
He was a year old on March 21 and has only recently returned home from five days in hospital after a chest infection on Thursday.
“Basically a cold could kill him,” Jenny added.
The shop at 69 High Street is open for the next two weeks between 10am and 4pm, and is manned by Blake’s family and friends.
The next study will require funding of $733,000 (£480,000), a daunting prospect but one Blake’s family believe is possible. They have set a target of £1.2 million towards the worldwide scientific pursuit of a cure.
“The funds will be going towards the research as it’s such a rare condition and so the research is at an early stage,” Jenny added.
“At first we had no hope of a cure but there are a number of positive signs.
“I’ve been across to Houston where there’s a lot of work being done, however there’s no government funding there and the science needs funding in advance.”
The McMillans have set up a fundraising page at justgiving.com/hope-for-blake and details about the condition are available by searching “Blake McMillan Trust” on Facebook, which deals with research on the subject.
Blake has a three-year-old sister called Faye. The family have had support from a group of other parents around the globe, which shares stories, advice, photos, feelings and “just generally let off steam to each other”.
Jenny added: “Nobody wants to see their child in hospital hooked up to machines and struggling to breathe, and nobody wants to outlive their child either.”