William Eames, a five-year-old boy from a village in Hertfordshire, England, was diagnosed with Duchenne muscular dystrophy when he was three. Since then, his family have worked hard to raise money and awareness for the disease. The family was recently in the news because of the village’s fundraising efforts. PatientWorthy wrote an article at the time that can be found here. Now, William’s mum Jo has spoken to us about the family’s experiences with the condition.
Duchenne is a rare genetic disease that causes muscle weakness and leads to difficulties with movement. It is mainly found in boys and is thought to affect about 1 in every 3,000 children born. You can read more about the condition here.
Jo Eames first suspected something was wrong when William had difficulty moving. He found it difficult to stand up, often using furniture and an action called the ‘Gower movement’ that involves using hands to ‘walk up’ the body, to reach a standing position. William also found stairs tricky, and so in November 2015, Jo took him to see a doctor. They were referred to a paediatrician who carried out blood tests, and in January 2016 they were told they needed to go to Great Ormond Street Hospital, a well-known hospital in the UK that specialises in treating serious childhood illnesses.
Jo says she was shocked and wanted to know what was wrong, but the paediatrician would only tell her that William had very high creatine levels. Jo researched online what that could mean, and three days later her suspicions were confirmed when Great Ormond Street doctors told her that they thought William had Duchenne muscular dystrophy. At that point, Jo says, she had no experience of the condition.
Jo described her reaction to his diagnosis, saying,
“You grieve the life that your son isn’t going to have – the ‘perfect’ life. But you realise that life is perfect in other ways.”
The rare nature of the disease means that even doctors can often misunderstand it. Jo says that her local family doctor had heard of it, but wasn’t aware of all its effects. The doctor had previously treated another child with the disease, but because the two children had had very different symptoms this could cause misunderstandings about the nature of William’s condition. The diversity of symptoms those with Duchenne can show makes treating children even more complex; two patients with the condition are rarely exactly the same. Jo says that once when she took William to the emergency department, “the doctors just weren’t aware of it.”
However, since the diagnosis, the family have learned a lot about the disease. They have made day-to-day adjustments to help William. Jo says, “we have extra steps to help him get into the car, we need a big car that can hold the wheelchair in the back […] I need to drive him to school sometimes because he can’t walk every day. All the little things like that.”
They are also planning to modify their house to accommodate William’s current and future needs – the recent fundraisers have gone some way towards helping to pay for this. They will need to build wider doorways to allow for his wheelchair, including an entirely new front door. Other modifications include a wet room and larger bathrooms. A lot of the village has been involved with the fundraising, which has involved abseiling and dinners, amongst other events. Jo says about the response, “It’s been great. We live in a village so I’ve been trying to raise awareness for Duchenne as well as fundraising.” She says that whenever people in the village have raised money for charity, they have donated it to DMD causes in William’s name. This year the family also founded their unincorporated charity, Defending William Against Duchenne. The Facebook page for it can be found here, and their website is here.
Getting involved with fundraising and awareness campaigns has also helped Jo to meet lots of other families in similar situations. She has been a trustee of the charity Action Duchenne since January 2017. “That enabled me to meet more people. I also know a lot of mums through a Facebook group specifically for Duchenne parents. But it’s not something I use to ask advice, I ask a consultant. It’s a way to ask about things like going on holiday and trips out.”
“We have made very good friends with two other families who have children the same age as ours.”
Jo says that her advice to other families affected by the disease is to make sure you have support – from friends, family, and a good doctor. She says that sometimes she struggles – “it’s a rubbish condition” – but that overall, William is “the happiest little boy.”
To find out more about Defending William Against Duchenne, go to their website or Facebook page.
