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Beaming baby Blake diagnosed with rare disease meaning he will forget how to walk, talk… and smile
Blake McMillan, of Longforgan, Pertshire, suffers from MeCP2Only 150 people believed to suffer from the disease worldwideWill forget basic motor functions as he grows due to duplicate brain gene
20:40 GMT, 7 March 2013
22:47 GMT, 8 March 2013
Beaming boy: Blake McMillan has been born with a rare genetic condition which means he will forget how to walk, talk and even smile
With his happy face smiling back at you, it seems all the more cruel that even this simple pleasure will one day be taken away from baby Blake McMillan.
The 11-month-old boy, from Longforgan, Perthshire, has been diagnosed with one of the rarest genetic diseases in the world – MeCP2 – believed to affect just 150 people worldwide.
Closely linked to Rett Syndrome – the disease which claimed the life of Coleen Rooney's sister Rosie McLoughlin earlier this year – it will mean Blake will forget how to perform basic motor functions such as walking and talking as he gets older.
Only discovered in 2005, the disease
which affects almost exclusively males occurs when a gene which controls
brain function is duplicated.
Sufferers usually begin to experience seizures by the age of five which causes the brain to stop functioning properly.
Most require round the clock care and at least half will die before the age of 25.
mother Jenny McMillan, a nurse, and her husband Paul, said they were
devastated when he was diagnosed with MeCP2 three weeks after he was
born on March 21 last year.
Mrs McMillan, 36,said: 'As soon as Blake was born, I had a feeling something wasn't quite right.
'There wasn't one thing in particular
which set the alarm bells ringing – I think it was just my mum's
instinct. When we found out what was wrong with him, we were absolutely
Hope: Paul and Jenny McMillan with baby Blake and daughter Faye, three, are raising money to try and find a cure for MeCP2
Rare: Baby Blake was diagnosed with MeCP2 three weeks after he was born – the condition affects just 150 people worldwide
'We don't know when exactly this will
all start happening, but we've been told Blake is likely to gradually
regress once the seizures start.
'It won't all happen straight away, but he is likely to lose most of his skills until he is like a small baby again.
Sibling love: Faye McMillan, three, enjoys making Blake laugh by pulling faces at him
'Thinking of what Blake is going to go
through fills me with panic. We have no way of knowing how bad the
seizures will be, but they could be so violent they give him a heart
'I worry he will suffer one in front of Faye, because that would absolutely terrify her.
'Most of all, I'm scared of being
robbed of my son. We're already falling in love with Blake's
personality. He spends so much time laughing at Faye.
'The thought of all of that being taken away from us and him not even being able to smile is almost too much to bear.'
The couple are battling to raise 1.2
million to fund trials in the US and the UK which may be able to help
Blake continue his favourite pastime – laughing as his three-year-old
sister Faye pulls faces.
'It is a lot of money but I
couldn't go to my grave knowing that I didn't do absolutely everything
in my power to help Blake,' said Mrs McMillan.
'We all love him so much no matter what but we want him to have some quality of life.
'As it stands, I'll have to care for him 24 hours a day and he'll still be wearing nappies, even when he's in his twenties.
'People might think a cure is a long
way off but I believe if we can raise this money we could see
significant developments in Blake's lifetime.'
and construction company director Paul, 32, have joined forces with
other families affected by MeCP2 duplication syndrome across the world
to raise money for similar trials involving their son's condition.
Professor Kevin Foust, from the
department of neuroscience at Ohio State University, said that he and
his fellow experts are optimistic MeCP2 duplication syndrome could soon
Recent experiments carried out on mice
indicate the symptoms of Rett Syndrome could be reversed by adjusting
protein levels in the body.
He said: 'The data from Rett Syndrome is very encouraging that a viable treatment for MeCP2 deficiency can be found.
'The current models for how MeCP2 is causing disease would apply to both Rett syndrome and the duplication syndrome.
'However the model needs to be validated. But if it holds up, there is a reasonable expectation that treatments for duplication syndrome can be developed also.'
To donate money to the family's appeal, visit www.justgiving.com/hope-for-blake