Girl is the 'only person in the world' to suffer from a disorder that has left her unable to eat

Mail Online | 8/28/2019 | Alexandra Thompson Senior Health Reporter For Mailonline
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A toddler has a chromosome disorder that is so rare she is thought to be the only sufferer in the world.

Nyara Bone's mother Heather Smith, 30, claims she was told she was being an 'over-reactive first-time parent' when she took her newborn to the GP after she projectile vomited.

Months - Doctor - Visits - Miss - Smith

After 16 months of doctor visits, Miss Smith and Nyara's father Stefan Bone, also 30, were finally told she has a set of DNA deletions and duplications on her thirteenth chromosome.

The unnamed disorder has left the three-year-old with 24 health complications, including an inability to walk, talk or eat, as well as incontinence, behavioural problems and distinct facial features.

Condition - Doctors - Future

Due to the condition being so rare, doctors are unable to predict what her future may look like.

For now, the youngster attends a specialist nursery in Ayr, Scotland, and is an 'infectiously happy girl' despite the daily pain she suffers.

Speaking - Daughter - Condition - Miss - Smith

Speaking of her daughter's condition, Miss Smith said: 'I can always remember going to the doctor and asking for help when Nyara was three months old.

'She was very clearly suffering in some sort of pain and projectile vomiting far too often for a newborn.

'I - Mother - Shoulder - Wind

'I was told I was being, "an over reactive first-time mother" and "just put her up on your shoulder and hit the wind out of her".'

At 16 months old, Nyara was finally diagnosed with a chromosome disorder.

Diagnosis - Person - World - Deletions - Duplications

'This diagnosis is so rare she is the only person in the world with her specific deletions and duplications,' Miss Smith said.

Mr Bone added: 'Other kids will have their 13q [chromosome] affected but she's got five duplications and one deletion, so there's nobody else with that.

Case - Point - Life

'Every case is so individual you're never really sure what they might go through at any point in their life.'

Nyara is said to...
(Excerpt) Read more at: Mail Online
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