5-year-old with Angelman Syndrome takes on Junior & Mini Great North Run to raise awareness for the rare genetic disorder
Lola Maddick, a 5-year-old girl from Gateshead, Newcastle Upon Tyne, was diagnosed with a rare disease known as Angelman Syndrome. Despite all odds, she will be taking on the Junior and Mini Great North Run on Saturday 10 September to raise awareness of Angelman Syndrome and raise money for the charity, Angelman UK.
Angelman Syndrome is a rare genetic condition that affects the nervous system and causes severe physical and learning disabilities. It’s affects around 1 in 20,000 births.
Speaking to Lola’s mother, Victoria, she told us about the difficulty with the diagnosis of such a rare disorder. She told us, “When she was born she didn’t meet any milestones. I was backwards and forwards to the doctors and after about nine months she was referred to a pediatrician at Durham Hospital.
“At first they thought she had epilepsy because she started having seizures. It took them four days to get the seizures under control. Eventually, the doctors told us she had Angelman Syndrome.”
As the syndrome shares similar symptoms and characteristics with other disorders, misdiagnosis often occurs.
Living with Angelman Syndrome has been a struggle for both Lola and her mother and father. “It was an uphill battle for two and a half years trying to get her seizures under control. We tried loads of different medications.
“For the first three years of her life I couldn’t go anywhere. She couldn’t have a babysitter due to her seizures, we missed out on a lot of things planned. She couldn’t go to kids parties or even just the park.
“However, one of the main characteristics is that she’s happy all the time. Just laughing and happy all the time. It does have its downfalls though. One Christmas, she broke her arm and I didn’t even know.
“One day she stopped using it so I took her to the hospital. She was laughing the whole time. I couldn’t believe it when the doctors looked at an x-ray and it was broke.”
The help of Angelman UK Charity has been instrumental through this time. Victoria explained their impact, “Although they don’t have the facilities to refer you to any clinics or doctors, it’s just a group of mum’s, mostly with kids that have Angelman Syndrome, they provide so much support.
“They give advice on everything. They just don’t get a lot of exposure or awareness because it is so rare.
“Spreading awareness will hopefully get more people involved and more money to help invest in research and help more kids. It would be nice if we got better facilities up here. If the charity was bigger and got more exposure it could maybe even fund therapies up here.
“It’s hard because everything’s a battle and you have to literally beg for stuff you don’t really want to beg for.”
Speaking on Lola’s participation in the Mini Great North Run, Victoria adds, “On the day, it’ll be fantastic for Lola. She loves attention and adult interaction. It will be just like going to Disneyland for her, with everyone laughing and clapping she will be over to moon.
“What we want to do is get her out of the pram and hold both her hands to walk her over the finish line. That would be lovely.”
“I always say, I wish I lived in Lola’s word, because she doesn’t have a care in the world. She is going through all this trauma and trouble but she’s always so happy. She doesn’t really know what’s going on, I just wish I lived in her world.”
Lola and her mum and dad, will run together on Saturday 10 September around Newcastle Gateshead Quayside for the Junior and Mini Great North Run.
It’s part of a fantastic weekend of sport in Newcastle, seeing thousands of people running in aid of fun, fitness and fundraising.
For more information about the event, click here.
To support Angelman UK, visit https://www.angelmanuk.org/