Three-year-old Mateo has an incredibly rare syndrome with an uncertain outcome, but he’s determined to fight the odds. Backed by a supportive family and a few small gifts from Satan’s Little Helper, he’s slowly building strength and working towards his goals.
MECP2 duplication syndrome is so rare that in 15 years, it’s believed that there have only been three recorded instances of the condition.
MECP2 is brutal. Characterised by severe intellectual disability and impaired motor function, it mainly affects males. 50% of those who have it don’t live longer than 25 years old, and only one third can walk independently. No matter the odds, Mateo’s mum Sarah is determined to fight the syndrome.
“Our little man needs a lot of help,” she says. “He was diagnosed when he was one and even to reach that point was a struggle. I was turned away by so many doctors, who told me I was being an anxious mum, but I could see something wasn’t right.
“Eventually, we came across a lovely doctor at our local clinic, who took one look at Mateo and realised something wasn’t right. She sat and listened to me for ages and admitted us to hospital. We spent a week there and he was eventually diagnosed after a blood test. To be finally listened to was a real ‘I’m not losing my mind after all’ moment. More importantly, it meant we could start to try and help him.”
Work starts now
Right now, Mateo has limited speech and mobility, but the whole family is working hard to try and improve things.
“We see a physio and speech and language therapist as well as a paediatrician. He has definitely made some progress, which is encouraging. For example, he can pull himself up; although he isn’t strong enough to walk by himself yet. He can say ‘yeah’ and sometimes it sounds like he’s saying other words, even if he isn’t.”
The good news is that he’s making progress – but he does need a bit of help at home. So, to provide a way for Mateo to keep getting stronger, Satan’s Little Helper sent him a ‘peanut’ ball to sit on.
“The peanut is great for his strength. It forces him to use all his muscles to balance on it, building strength and coordination at the same time, both of which he needs if we want to get him walking.”
But life isn’t just about work, so Satan’s Little Helper got Mateo something to help with his playtime as well – two trucks and some soft foam matting to take the edge off any bumps!
“He absolutely loves pushing the trucks around. They arrived on his birthday, which was a nice bonus. He loves the flashing lights and buttons, and it’s really been good to see him use them to learn how to play.
“Mateo is great playing with adults, but he struggles a bit with children. Hopefully this will help!”