SIBLINGS Felicity and Johnno Cantrill say forewarned is forearmed as they commit to a lifetime of medical testing after being diagnosed with a rare genetic mutation of the SDHB gene.
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Their father Lewis died from the rare condition, which manifests itself as tumours in the body, more than 10 years ago at 50 years of age.
The brother and sister, aged 28 and 30 respectively, now find themselves dealing with the extremely rare condition.
Felicity recently underwent surgery in Sydney after a tumour was discovered in her neck.
It was wrapped around her carotid artery.
The pair are urging people with a family history of life-threatening illness to seek out as much testing as possible.
“I just had this gut feeling something wasn’t right, that it was more than just an inflammation or a swollen gland,” Felicity said.
She said in some ways she was being over-cautious because the mutation caused the tumours that took her father’s life.
“I suppose I always had it in the back of my mind I might get something like dad had, but at 30 I didn’t really think it could be that, until my neck started to get sore,” she said.
“When I think back about my surgery experience, it all seems surreal.”
After specialists diagnosed the tumor in her neck she underwent delicate surgery at Royal Prince Alfred Hospital (RPA).
An anxious time followed as she waited for the results, which showed the tumour had not spread to her lymphatic system.
“For the rest of our lives we will have to have blood tests and MRIs on a regular basis,” Johnno said.
“We still don’t know how the gene was passed to dad or whether he was the first to develop it and pass it on.”
He said his sister’s experience had shown the importance of regular testing.
“It was an emotionally-draining time for our whole family as my baby daughter was delivered by caesarean the day after Felicity received her diagnosis,” Johnno said.
Felicity said she was initially bemused by the interest in her condition at RPA.
“But then I found out it really is so rare,” she said.
“I feel so lucky to live in a place like Australia where we have a fantastic health system.
“All the doctors and nurses who treated me in Sydney were amazing.”
janice.harris@fairfaxmedia.com.au
