Family with a rare condition urges people to trust instinct

Carly Benson and her brother Aaron

A doctor whittled down 5,000 possible skin conditions to solve a mystery that has changed a family’s life – and now they want to help others.

Six years ago, Carly Benson would have had no idea what hereditary leiomyomatosis was if you had asked her.

Now she is something of an authority, so much so she is quoted in a book on the subject. That is because she and members of her family have the condition, which can lead to an aggressive form of kidney cancer, meaning regular medical checks are now a fact of life. It was a consultant at Benenden Hospital, near Cranbrook in Kent, who put all the pieces of the puzzle together to secure the crucial diagnosis.

Carly, 37, who lives near Rye, has been a friendly face on the hospital’s main reception desk since 2011.

Her younger brother Aaron, 34, had suffered from extensive and uncomfortable swellings under his skin largely across his abdomen, arms and face since his teenage years. He was back and forth to numerous doctor appointments in an attempt to pinpoint the cause of the two-inch corkscrew-style lumps, but to no avail.

So distressed was he at how they looked, he was exploring having them removed privately by a plastic surgeon.

Carly said: “I begged my brother not to have the cosmetic surgery as no one seemed to know what they were and therefore they would not know how to remove them safely. Aaron came to see dermatologist Dr von der Werth in September 2012 and he believed he knew – leiomyomas tumours. So rare was it, he said he had only come across it once before in his career. But once was enough to give us the starting point we needed.”

Dr von der Werth inquired if any other family members suffered from similar growths. Carly had some imperfections on the skin, as did her Dad.

With Dr von der Werth’s guidance and having spoken to experts in the UK and the US to have as many facts as possible to hand, Carly then pushed her GP to order genetic testing for a disorder that can trigger the lumps. The chances were extremely slim, but they were there.

Results for Aaron, Carly, their father Dennis, younger brother and sister Adam and Jasmine and Carly’s three children – April, 18, Charlie, 13, and eight-year-old Harrison – came back as showing they carry the gene for hereditary leiomyomatosis and renal cell cancer (HLRCC).

Put simply, it causes benign tumours on the skin and in the uterus and it can develop into a specific strain of kidney cancer for which there is currently no cure. There are in the region of 250 families in the world that are known to be living with it, but the belief is it is higher with significant under diagnosis an issue. Yearly tests – six monthly for the children – are necessary to keep an eye on any changes. Carly is now keen to raise awareness so no other families are in the dark and can get into the system for screening and tests at the earliest opportunity.

She and her family are in contact with www.vhl.org, an organisation supporting those affected by a number of genetic conditions.

She said: “Maybe we could save a life by someone reading this. Knowledge is prevention. It is very important for us to raise awareness. We want others to be able to rely on more than gut instinct that something is not right.”

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