The mother of a three-year-old boy with an extremely rare condition has spoken of her joy after scientists revealed they had potentially found a cure.
When Blake McMillan was born with MECP2 Duplication Syndrome, it was thought he would never move or talk and would maybe not live to see his 25th birthday.
The disorder creates an extra copy of the MECP2 gene in each cell which triggers mental and physical issues.
But over the last few years, Dr Huda Zoghbi in Houston, Texas, has been working on a cure and was hopeful she could reverse the crippling condition. Finally, Dr Zoghbi has made a breakthrough in reversing the syndrome in mice and she firmly believes children like Blake can now be cured using a “gene silencing strategy” called antisense oligonucleotide therapy (ASO).
Blake’s mum, Jenny McMillan, 38, of Carnoustie, will now be putting her son forward for the predicted clinical trials.
She said: “We actually found out a while ago but the news was only just made public, so we couldn’t say anything until then.
“We got the heads-up at a conference with other families of children with the condition and we were just overwhelmed. There was a mixture of excitement, hope and fear all in one. But it was lovely to share that good news with other people in similar situations to us.”
One of the dreams Jenny has is of a day where Blake can play with his older sister Faye.
While she adores her little brother, Blake is unable to play with Faye, pictured right, because he can’t even sit up or talk to her.
It’s hoped that clinical trials of bringing the cure to humans will begin over the next few years bringing Jenny’s dreams true.
She said: “Faye and Blake can’t interact together. She gets bored and it’s very sad to see on a daily basis — it’s really upsetting. I want them to have a relationship and I want him to experience life. He has seizures all the time and it’s heartbreaking to know you can’t help him.
“All you want to do is help your kids but I can’t do anything. I can’t take the condition away from him.”
While Blake’s long-term future looks vastly more positive, his day-to-day struggles are all too obvious and he is currently in Ninewells Hospital being observed and is very rarely in perfect health.
Jenny said: “He’s now getting about 50 seizures a day and I’m currently in Ninewells with him at the moment for an EEG (electroencephalogram) to see what’s going on.
“As he gets older the seizures will continue to get worse, until we can reverse the condition. At the same time, he has a high temperature, so he’s constantly battling. I want to say thank you to each and every person who has supported me, fundraised, donated, or even just believed me when I told them that one day this would be reversed.
“No matter how big or small the donations have been — from pennies to tens of thousands of pounds — I am so grateful.”
Anyone who wishes to find out more about Blake’s condition or send donations can do so by visiting http://www.blakemcmillantrust.org/.