County Durham man with rare genetic disorder Lowe's Syndrome speaking up for fair treatment

A County Durham man who suffers with a rare genetic disorder is walking the distance from his home to Naples, in Italy, ahead of giving a key-note speech in the city.

Paul James, 40, suffers with Lowe's Syndrome, but he is determined for his disability to be turned into a positive both for himself and others affected by the condition.

Mr James will deliver a key-note speech at the Lowe Syndrome Trust's conference to an international audience of scientists, researchers and families in Naples on 24 May.

As well as Lowe's syndrome, which mainly affects males, Mr James has a learning disability and a visual impairment. He said he wants to show that people with a learning disability are allowed and should be allowed to have the same opportunities in life as those without a learning disability or without Lowe's Syndrome.

Mr James said: "I’m very passionate for everyone to be treated fairly, equally and I have myself experienced times where this has not been the case because I have a learning disability."

Before heading to Italy, he will fundraise for the UK's only Lowe's Syndrome charity by walking 1,551 steps in his kitchen every day after work. He says this is because it is 1,551 miles to Naples from his home in Pelton, near Chester-le-Street.

He said: "Earlier this year I bought myself a Fitbit and started to do some daily steps. I wanted to do something to raise money this year.

"My PA who supports me at work came up with the idea to set myself a challenge to do so many steps per day until we go to Naples.

"The money will go towards medical research into Lowe Syndrome which mainly affects males and it’s very rare. I do love a challenge."

In a previous fundraising event, Mr James drove a dual-controlled car around Nissan's test track in Sunderland as part of the RNIB's blind challenge to raise money for Guide Dogs.

He said: "I loved every minute of this. I don't think my mum who was sat in the back loved it though, especially when the guy sat next to me told me to put my foot down on the gas and I was going 100 mph. It was great."

Mr James works as a learning disability and autism advisor for the primary care team with NHS England and the national learning disability and autism programme. He liaises with GP Practices about how to make reasonable adjustments for people with a learning disability, autism or both.

Mr James felt his visual impairment needs were not met at school and he faced further problems when he went on to study at college.

He said: "This is why I applied for the job to help make positive changes in the NHS.  I have learnt a lot and my confidence has really grown. I really enjoy all the aspects of my job.

"Just because someone has a learning disability, It shouldn’t mean you have less chances or opportunities in life than anyone else and everyone should be treated equal. I work with some great colleagues and feel equal to everyone else."

What is Lowe's Syndrome?

Lowe's Syndrome was first prescribed in 1952 by Drs Lowe, Terrey and Maclachlan at the Massachusetts General Hospital in Boston, USA.

The disorder mostly affects males and can be found at birth, sometimes months or years later. The three organs affected are the brain, the eyes and the kidneys.

Boys diagnosed with Lowe's Syndrome have mild to severe mental impairment, delayed development and behaviour characterised as being on the autistic spectrum. The behaviour includes temper tantrums, attention deficit disorder and obsessive behaviour.

Mr James said he hopes funds raised will be used to help with research into ways to help treat and support those with Lowe's Syndrome.

Want a quick and expert briefing on the biggest news stories? Listen to our latest podcasts to find out What You Need To know...