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Teenager is the only person in the world with unique combination of rare illnesses

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Iona Atkins has a number of extremely rare health conditions, including Turner Syndrome, but still dreams of working in hospital wards as a play specialist. Daily Record says Iona, now 19, has been shielding during the COVID-19 pandemic but has now had her vaccination and is looking forward to starting her healthcare training.

No one else in the world has the combination of so many rare illnesses.

Iona’s mum Ann, 57, used Rare Diseases Day to raise awareness of Turner Syndrome, where one of a girl’s X chromosomes is missing and which affects about one in 3500 girls.

Most sufferers grow up to be shorter than average, with underdeveloped ovaries and fertility issues. Girls also have distinctive features and associated health conditions, some of which may be apparent from birth including thick neck tissue, being a small baby, heart conditions and kidney abnormalities.

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Ann, a retired police sergeant, said: “Iona always looks on the positives, never moaning about her treatment or daily challenges she faces and has helped raise a large amount of money for charity, especially the Brain Tumour Charity.

“She is now also a young person’s ambassador for Cavernoma Alliance UK.”

The teenager, from Ayr, Scotland, also has cholesteatoma – an abnormal collection of skin cells deep inside the ear. But while doctors planned her surgery to treat her cholesteatoma, they discovered a more serious problem.

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Craniopharyngioma is a rare type of noncancerous tumour which begins near the brain’s pituitary gland. As a craniopharyngioma grows it can affect the function of the pituitary gland and other nearby structures in the brain causing gradual changes in vision, fatigue, excessive urination and headaches.

The tumour also led to Iona developing hypopituitaryism, a rare disorder occurring in just one in 100,000 people in which the pituitary gland fails to produce one or more hormones essential to the body’s routine functions including growth, blood pressure, reproduction, maintenance of temperature, fatigue or muscle strength.

At the beginning of last year, Iona began to have seizures which doctors discovered were caused by another rare condition – symptomatic cavernomas in the brain.

These are a collection of abnormal blood vessels in the brain, similar to a raspberry in appearance, which can bleed and cause a number of symptoms such as seizures, fatigue, headaches and stroke-like symptoms.

Only one in 400,000 will have a symptomatic cavernoma.

The chances of one person having all four of these conditions is so high that nobody else has been recorded with them all.

Iona, who is hoping to be able to join a musical theatre group when lockdown ends to resume her passion for the stage, said: “There have been a couple of times when I have thought ‘Why do I have to go through this?’

“But it is only a blip. I know I can’t really change it and have just got to face it.”

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Despite multiple surgical procedures, treatments and tests, Iona showed immense courage and determination. And within weeks of one operation, she passed seven school exams.


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