South Yorkshire woman with genetic disorder urges people to wear jeans and raise awareness

Retinal Dystrophy sufferer Emily Clarke from Millhouses who is a counsellor for Genetic Disorders UK and a supporter of Jeans for Genes
Retinal Dystrophy sufferer Emily Clarke from Millhouses who is a counsellor for Genetic Disorders UK and a supporter of Jeans for Genes

Emily Clarke was just six years old when she was diagnosed with a genetic disorder that affects the retina in the back of her eyes.

Despite losing her central vision – which makes faces, words and places difficult for her to recognise – she hasn’t let this stand in the way of her ambitions.

Retinal Dystrophy sufferer Emily Clarke from Millhouses who is a counsellor for Genetic Disorders UK and a supporter of Jeans for Genes

Retinal Dystrophy sufferer Emily Clarke from Millhouses who is a counsellor for Genetic Disorders UK and a supporter of Jeans for Genes

Her diagnosis sparked an interest in genetics.

So after finishing school Emily went on to study the subject at Newcastle University before completing a master’s degree in genetic counselling at Manchester University.

For the last year the 31-year-old has been working as the first ever genetic counsellor for Genetic Disorders UK, a charity which helps children suffering from a genetic disorder.

Her role involves supporting and helping families with everything surrounding genetic conditions.

Emily, from Millhouses in Sheffield, said: “After working in the NHS for three years I was exploring my options.

“I had heard about Genetics Disorders UK and Jeans for Genes Day and thought they would be a good organisation to make contact with.

“I got in touch and the chief executive was really enthusiastic and things just went from there.

“I started working on a self-employed basis, helping with enquiries, and built from there. That was last September and I officially started in July.”

On an average day she will provide a vital helpline to help people deal with issues after being diagnosed with a genetic condition, such as managing feelings of guilt, talking about genetic disorders and how to get educational support.“My main focus is really with the helpline and enquiries that come in for anything and everything about genetics,” said Emily.

“People are looking for support or information. They may want to know how they might be able to get genetic testing or how they are able to find out about the conditions in children.

“Genetic disorders can be quite rare and quite isolating for families who are struggling to find out information about their child’s condition and not being able to find out anything by searching Google.

“Another important aspect is putting people in touch with each other.”

Emily’s role as the charity’s first ever genetic counsellor is an acknowledgment of the increasing importance of charities and support groups to help people with genetic disorders.

The rapid development in genetic technology places a greater importance on roles like hers and enables the expansion of genetics across the whole of medicine.

To overcome her disability as a genetic counsellor, Emily uses speech and magnification software to magnify and read out documents from the computer.

Often she needs a personal assistant to look up information and attend important conferences with her, but instead of allowing her disability to inhibit her work performance she uses her experiences to provide a more empathic and holistic approach when supporting clients.

She said: “The most rewarding part is being able to have a telephone conversation with somebody who is worried and has questions and hasn’t been able to get answers anywhere else, and being able to give them the information in a way they can understand and is personal to them.

“It’s not just general information. It’s tailored to their situation and helps them access the services they are entitled to.”

Emily, who is also about to take on a similar role with the Macular Society helping youngsters with visual impairment, is keen not to share her experiences too much with the people who contact her, instead choosing to focus on them.

She said: “My condition isn’t something I tell people who get in touch because the conversation is about them and not about me. I think the training, information and experience I have through my work has given me the breadth of experience to enable me to be empathetic when talking to people.

“My colleagues, whether or not they have personal experience of a genetic disorder, have an enormous amount of experience.”

Emily is now encouraging people to pull on their favourite pair of jeans, in exchange for a donation, for the charity’s Jeans for Genes Day on Friday, September 18.

She said: “Jeans for Gene is a fantastic fundraising and awareness raising event. Many schools, workplaces and employers get involved.

“Genetic conditions are maybe something that some people have come across but don’t know much about, but it is estimated that one in every 25 children have got or will have a genetic condition at one stage in their lives.

“It’s quite an important area and Jeans for Genes Day is a great way of getting people talking about it.”

n To sign up visit www.jeansforgenesday.org or purchase a T-shirt at www.jeansforgenesday.org/shop