Taking rare disease in my stride
Four-year-old Oliver Hardwell shows that he is not going to let pontocerebellar hypoplasia – PCH – hold him back.
Oliver is one in a million if not one in a billion. While his diagnosis is not clear cut, genetic tests suggest that he has PCH type 6, an extremely rare neurological condition that typically leads to delayed development, problems with movement and intellectual impairment. As a result, Oliver can’t sit or stand without support. But with a variant of PCH6 that his medical team have never seen before, Oliver is exceeding all expectations and eighteen months ago, at the age of three, was showing signs that he desperately wanted to walk.
The flame was lit at a local pop-up event for children with disabilities, which was trying out a motorised assistive device that supports users in an upright standing position and moves their legs in a walking motion. “Oliver had never done anything like that before,” his mum, Toni, tells This Is MedTech. “But he absolutely loved it. He just flew.”
As a result, she and her partner began to fundraise to purchase the device, which was not available to them through the National Health Service in the UK.
“When you are disabled and in a wheelchair there is not really much out there to keep you fit,” Toni explains. “A machine like that, which gets Oliver’s legs moving, gets him standing and raises his heart rate, and which he can tolerate, is doing him a lot of good. It also gives him a sense of independence and freedom of being able to stand and have that upright feeling without being held, something that we take for granted every day.”
Eighteen months on, Oliver’s mum is delighted with his development. “He is getting a good workout every day, which is helping with his energy levels,” his mum explains. “We also practise standing with him all the time and he is really making an effort, putting his feet flat on the ground and pushing down through his legs. He never did that before and I genuinely don’t think he would have, or it would have taken an extremely long time.”
The next step is for Oliver to put his foot forward. “He doesn’t do it all the time, but he does it. This is amazing because it is building up the backbone for him to start walking,” his mum explains. “Every step he makes like that is just a huge step in the right direction.”
Irrespective of his developments, Toni describes the device as life-changing. “It is really hard to put a price on something like that when you have a child like Oliver,” she explains. “Because you have no idea what the future may hold. So to do anything to improve their quality of life is so important. And Oliver just loves it! This device will be a really integral, important part of every single day for the whole of his life.”