Alan Bentley: Olmsted Syndrome

Alan’s father Tom had been very worried about passing on his (as then unnamed) condition to his children and was relieved when Alan was born showing no visible signs. However, hard skin soon started to appear on baby Alan’s feet and his journey to Olmsted Syndrome had begun.

Tom had always felt ashamed of his condition, he’d tried to hide it from other people and suffered in silence - he desperately did not want his son to go through the same.

By the age of nine, calluses had formed on the balls of both Alan’s feet and by the age of ten his feet were covered. His life had been taken over by extreme pain and discomfort. He also had to endure the added extra intense pain when having the calluses removed by chiropodists using scalpels or razors without any anaesthetic. During the summer, the hot weather would make things much more difficult and Alan would resort to crawling around the house to take the pressure off his feet.

Alan explains that the pain can take many forms.

“There’s the ache, it throbs, then there’s the burning derivative, it feels like fire and then there’s the pain of infection,” he said.

Throughout his schooling Alan didn’t feel normal and would never let anyone see his feet. He also felt very self-conscious due to additional symptoms he was developing that made him ‘different’ from the other children. He had very thin, frail hair with bald patches on both sides. He had to endure years of name calling, taunts and laughter.

As he grew up his condition progressively worsened and every aspect of Alan’s life was affected. After leaving school he chose a job as an office clerk so that he could keep off his feet - and to avoid passing it on he chose not to have children. By the age of 25, Alan was drinking heavily and even contemplated suicide.

Getting a diagnosis

Alan eventually received a diagnosis in 2013, but his journey to get there was convoluted.

He’d been treated over the years by dermatologists with a variety of different medications and at one stage was even on a treatment normally used for psoriasis. He’d learnt to trim the calluses himself, was using Cod Liver Oil to manage the inflammation and pain – and around this time he met his future wife, Susan.

It was to be his mother-in-law who set him on the path to getting genetic testing. She had watched a YouTube video about a similar condition called Pachyonychia Congenita and wondered if Alan had it. Alan wrote to the program makers, was put in contact with the correct person to speak to and subsequently a genetic test was undertaken. The results showed that Alan did not have Pachyonychia Congenita but actually had the even rarer condition of Olmsted Syndrome.

Last year Alan came across a suitable treatment and with the support of his consultant, he started taking Erlotinib – a drug previously used for pancreatic and lung cancer.

Erlotinib is not a cure for Olmsted Syndrome but it allows Alan to control and manage his condition. Within 24 hours of taking it, he had progressed from being forced to crawl through his house to being able to stand and walk.

What getting a diagnosis means

After 40+ years of wondering ‘why me’ and learning to live as best he could, Alan says the diagnosis came as a relief. At last he had the answer and even though there is currently no cure, it opens up the opportunities for research and a greater understanding amongst patients and medical professionals.

Alan feels the key is getting tested genetically and wants others to know about it and to not suffer like he and his father have done for so many years. He also wants people to know that they too may be able to use Erlotinib and that this treatment has improved his life 100%.

He says about Olmsted Syndrome: “It has absolutely dominated my life, spoilt my life, limited my life, but in some ways it has also made my life. Faced with such a situation either makes or breaks people. I have come through it and have kept fighting – and it is now my crusade to stop others from suffering.”

“It’s so important that medical professionals and people suffering from conditions like Olmsted Syndrome know that getting your genome sequenced is essential – identifying the appropriate genes can be the pathway to a diagnosis, receiving the right treatment and improving people’s lives.”

The importance of diagnosis

“For anyone with a rare genetic skin disorder getting a genetic diagnosis is important,” said Professor Edel O’Toole, Professor of Molecular Dermatology, Queen Mary University of London.

“Although having a genetic diagnosis may not produce the opportunity for an instant cure for the individual, there are a lot of researchers working on rare skin disorders and new treatments will become available. It is likely that many of these treatments will require a precise, genetic diagnosis.”

“Although the disorder that Alan has is rare, knowing his genetic diagnosis allowed prescription of a drug which was truly transformative for the pain in his feet and some other symptoms. The new NHS Genomic Medicine Service and the mainstreaming of genetic testing to specialists that see the patients, in my case dermatologists, will allow more rare skin disorder patients to get a genetic diagnosis.”