A Tayside mother burst into tears after receiving an anonymous £50,000 cash boost towards vital research into the rare medical condition affecting her one-year-old son.
Blake McMillan was diagnosed with MeCP2 Duplication Syndrome, which only affects around 300 people worldwide, when he was just three weeks old.
The Longforgan youngster’s family and friends are helping raise money for a worldwide campaign to fund a study that could ultimately lead to the creation of medicine that would minimise symptoms of the condition.
Blake’s mother Jenny McMillan told The Courier she was “in shock” at the generosity of the five-figure donation.
She said: “I just burst into tears. I couldn’t believe it, I was shaking. I’m totally amazed that anyone would be so kind and give us such a huge amount.
“The money will go towards the research study it means the world. It’s such a huge thing and it brings us closer to getting this study arranged. It’s such a boost.”
MeCP2 Duplication Syndrome is a condition that occurs almost exclusively in males and is characterised by moderate to severe intellectual disability.
Most people with the condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, epilepsy, which is very poorly controlled, and muscle stiffness.
Experts in the US have an approved four-year study ready to start as soon as the funding becomes available.
Jenny said: “It’s called a Pharma Screen Study and they are looking for a drug compound that could reduce the levels of MeCP2 and therefore minimise the symptoms that they show.
“Obviously, they are looking for a cure as well and this study could potentially lead to that. If they can stop people suffering what they suffer then that will be a huge bonus and they can live a much happier, easier, healthier life.”
Jenny said in order for the study to begin, half of its approximate £500,000 cost will have to be raised in advance another reason that the latest donation is so welcome.
She said: “We are trying to reach quarter of a million and then the study can start. There was another big fundraiser announced from an American family on Tuesday and that was another $20,000 which is another huge amount.
“We are very close and it’s within reach now. It’s a four-year study, so the sooner we get it started the better it will be for our children.”
Blake is one of seven boys in Scotland diagnosed with MeCP2 Duplication Syndrome and around 25 people in Britain are thought to be affected by the condition.
Jenny said: “There will be more than that who are undiagnosed. Most of our children have severe epilepsy, which Blake sadly was diagnosed with a few weeks back.
“He had his first major seizure and is now on medication for them. That’s a huge part of their life and they can sometimes have 50 seizures a day, if not more. It affects them in so many ways.
“A cold could potentially kill them, it can lead to pneumonia very quickly. Because it’s such a rare condition, there’s no government funding at all to do these studies, so it’s entirely up to families and friends to find that money.
“We keep in reasonably close contact with the researchers,the scientists and the chairman of the charity to let them know how much we’re raising.”