Of 5,000 possible skin conditions, a Benenden Hospital doctor solved 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 that can lead on to an aggressive form of kidney cancer, meaning regular medical checks are now a fact of life.
And it was a consultant at Benenden Hospital who put all the pieces of the puzzle together to secure the crucial diagnosis.
Carly, 37, who lives near Rye in East Sussex, has been a familiar friendly face on the Hospital’s main reception desk since 2011.
Her younger brother Aaron, 34, who lives in the same village as her, 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, which totalled several hundred, but to no avail. So distressed was he at how they looked, he was exploring having them removed privately by a plastic surgeon.
A combination of working in the hospital environment and a desire to make the most of their Benenden membership, Carly urged Aaron to seek guidance one last time.
So began a chain of events no one could have predicted.
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, aware of one of the causes. 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 (collectively shortened to HLRCC) after screening at Guy’s Hospital in London.
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, plus other families through social media. Carly and Aaron have volunteered to take part in clinical trials in the hope their experiences can help others.
Meanwhile, Aaron has also undergone laser surgery in an effort to ease the crippling pain it causes him.
She said: “Maybe we could save a life by someone reading this.
“Of course, it was really daunting to start with for all of us, but we are lucky we know about it, we are all well and are being closely monitored. If we have as much as a speck of blood in our urine, we are straight off for a scan.
“I am so thankful that Dr von der Werth put us on the right track because without him we would not have known about our condition and would not have the regular MRIs and screening we need. 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.”
Consultant Dermatologist Dr Jan von der Werth said: “This case illustrates nicely the importance of getting the correct diagnosis. Too often patients are simply told that something they are concerned about "is nothing" or is "nothing to worry about". However, unless one has a reliable diagnosis such reassurance may be inappropriate.
“In dermatology we know of a number of conditions where subtle skin growths can - rarely - hold the key to unlocking quite complex and important hidden disorders, such as was the case with Carly. This is where access to a specialist opinion can be very important.”
Published on 15 September 2017