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Doctors were left baffled by Moray woman’s rare condition

AWARENESS: Caroline Marquis is a member of the Turner Syndrome Support Society which spreads information about the condition
AWARENESS: Caroline Marquis is a member of the Turner Syndrome Support Society which spreads information about the condition

A woman whose rare disease put her in hospital 13 times before she turned seven has shared her story to help others with her condition.

Caroline Marquis had welcomed her first son when the mystery illness which plagued her childhood was finally diagnosed.

The 24-year-old was told she had Turner syndrome, a genetic disorder which affects one in every 2,000 baby girls and randomly develops in the womb.

But Mrs Marquis, from Fochabers in Moray, said: “It came completely out of the blue, but finally my condition had a name.

“They explained that this was the reason for my short stature and said that I was extremely fortunate to be fertile, but they could not predict how long this would remain the case.

“It was rare for a woman with Turner syndrome to be fertile.

“However two years later saw the arrival of my second son and, alongside my husband, I focused on bringing up our boys.”

Mrs Marquis said that growing up, her mother had continually told doctors there was something wrong but tests always came back negative.

“Doctors were baffled,” she said.

“My family and I never knew that I had a rare genetic disorder, despite my mother continually telling the doctors there was something wrong. After two years they eventually began to listen and began to carry out tests but the results were all negative for the things they tested for.”

Thankfully the youngster’s symptoms began to die down, and she was able to stay out of hospital for a number of years.

On receiving the diagnosis after the arrival of Max, Mrs Marquis was able to start learning about the condition. When he turned six, Mrs Marquis joined the Turner Syndrome Support Society, a charity offering support to those with the condition.

Speaking ahead of Rare Disease Day tomorrow which aims to raise awareness of lesser known conditions with policy makers, Mrs Marquis added: “Through the society I still continue to learn about Turners syndrome and living with it.

“This has enabled me to spread awareness about it and help others to access information and support.”