Mother of teenager with rare genetic condition in warning over care standards

The mother of a girl with a rare genetic condition says more must be done to ensure those affected receive the right kind of care.

Ali Reed, 43, is concerned about the quality of care her teenage daughter Emma will receive when she transitions to adult care services.

Emma, 15, was suspected to have Williams syndrome when she was nine months old but was not diagnosed until more than a year later.

The condition is a genetic disorder which affects around one in every 18,000 people in the UK. It can lead to delayed development among infants and can cause physical and mental health issues later in life.

The charity Genetic Alliance UK says in a new report that people with genetic conditions are being pushed into the “shadows”, saying there are too many diagnosis delays like the one experienced by Emma.

Ms Reed, who lives near Stirling, said: “During our diagnosis journey, what I found strange is that we had three or four healthcare professionals who had met other children with Williams syndrome, but didn’t see it in Emma.

“Once you know what Williams syndrome is, it’s not difficult to recognise people with it because they tend to share similar facial characteristics.”

Emma has been under the care of the same paediatrician for 13 years.

However her mother is concerned about the quality of care she will receive in future.

Ms Reed said: “Emma’s paediatrician has been excellent and she’s co-ordinated everything, but soon Emma will transition to adult services where she’s seen by a GP.

“Only one in about 30 GPs have heard of Williams syndrome, so it’s a concern to me that Emma won’t get the level of care she needs.”

Nick Meade, chief executive of Genetic Alliance UK, said: “Tackling the root causes of inequity must start with an understanding of the problem.

“Research to identify exactly how many people in the UK have a rare condition and the challenges they face is a vital first step so that healthcare systems can prioritise services and care.

“We need a strategic approach that recognises the unique challenges of rare conditions and delivers real change for our community. It’s the only way to drive forward real improvements in diagnosis, care and support.”

The charity is urging the Scottish Government to fund a comprehensive rare condition registry north of the border. It also wants to see changes to medicine regulations.

The Scottish Government has been approached for comment.