Girl, four, is mistaken for being a toddler due to her rare form of dwarfism that ‘affects just 30 people on the entire planet’
- Violet Cocking has microcephalic osteodysplastic primordial dwarfism type 1
- She was born tiny but it took two-and-a-half years for her to get a diagnosis
- The genetic condition means her body has not developed properly
- She also has delayed mental development affecting her speech and learning
A four-year-old with a rare form of dwarfism is often mistaken for a toddler, her parents say, and is a whole foot shorter than her best friend.
Violet Cocking, from St Ives in Cornwall, weighed just 2lbs 15oz when she was born and her condition means she is still only 2ft 7ins.
Her best friend, Willow, towers over her and she is only four inches taller than her four-month-old sister, while her size means she wears clothes made for 18-month-olds.
It took medics two-and-a-half years to diagnose the girl with microcephalic osteodysplastic primordial dwarfism type 1.
The condition is a genetic illness she inherited from her parents even though neither of them have it – according to rare diseases information site, Orphanet, just 30 cases have ever been recorded in scientific studies.
It means she has the mental age of a three-year-old and her speech and walking ability are less developed than other children her age, but her parents say she is a smart, funny girl.
Many children with the condition die before turning one – Violet has survived and is otherwise health, so her family is optimistic about the future.
Violet Cocking, four, is just 2ft 7ins tall and is a whole foot shorter than her best friend, Willow, even though they are the same age
Violet is often mistaken for a toddler, her parents say. Pictured, she is almost as small as her four-month-old sister, Ada
Violet’s parents, Charlotte and Robert Cocking, 32 and 43, unknowingly carried the dwarfism gene which meant Violet inherited the same defective gene from both.
Mrs Cocking, who is a bartender said: ‘People assume Violet is a toddler so when I tell them her real age, they look at me with a very confused expression.
‘Violet has settled well into reception but requires extra support – she has a really good friend called Willow Bentley-Smith who looks out for her.
‘She is 3ft 8in, a foot taller than Violet, which is a pretty average height for a four-year-old but their height doesn’t stop them from being the best of friends.’
Violet was born at 36 weeks weighed 2lb 15oz, which is considered late preterm. Her parents knew she was small but doctors could not explain why, they said.
Mrs Cocking added: ‘She was kept in NICU as she was unable to feed and could only stomach 50ml of milk a day – the equivalent to a double shot in barmaid terms.
‘As the months passed, she barely grew, and I became very concerned that she was wearing newborn clothing at six-months-old.
‘She wasn’t much bigger than a pint glass at three months old. Even now she wears specially made shoes which are a size two and a half for babies.
‘But periodically she was fine, we had genetic and blood tests with the NHS but the results were never abnormal – but I knew something was wrong.
WHAT IS MOPD1?
Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition. It is not clear how many are affected. Less than 30 cases have been described in medical literature, according to Orphanet.
Symptoms are:
- An abnormally small head
- Abnormal bone growth
- Distinctive facial features, such as a prominent nose and small jaw
- Spare hair and eyebrows
- Dry skin
- Short limbs
- Dislocation of the hips and elbows
- Seizures and intellectual disability
There is no cure, only treatment to ease symptoms.
The prognosis is poor, with most of the reported patients dying within the first year of life, according to Genetic and Rare Diseases Information Center.
‘I researched the living hell out of her characteristics – she had curved fingers and puffy feet along with a really small head.’
Tests when Violet was two-and-a-half revealed that she had the condition microcephalic osteodysplastic primordial dwarfism type 1.
It is not clear how many people have the condition but there are believed to be only around five in the UK.
It develops in the womb and is caused by genetic mutations.
Effects of the condition include an abnormally small head, abnormal bone growth, potential brain damage, thin hair, dry skin, short limbs and a tendency for the hips and elbows to dislocate.
Mr and Mrs Cocking discovered a charity called ‘Walking with the Giants’ which has diagnosed five other children with Violet’s condition in the UK.
Because both of her parents had the genes she had a 50 per cent chance of just being a carrier. Her younger sister, Ada, does not have the condition.
Violet has delayed development which means she is not as advanced as other children her age, but she can walk and goes to school.
Mrs Cocking said: ‘I can’t help but feel like I wasted the first year of Violet’s life obsessing with what is wrong with her.
‘We don’t know what to expect for the future, but she is very lucky as other children with this condition are known to be severely disabled.
‘Violet isn’t a typical child, but she is smart and funny – she is mentally three-years-old.
‘Her speech is behind and can be hard for others to understand and she can only walk a short distance in places where she is familiar with.’
Mrs Cocking feared her second daughter Ada, now four months, may have the same condition but a tests at 11 weeks confirmed she was born without it.
She adds: ‘I was a nervous wreck waiting for the results with Ada, as we wouldn’t be able to cope with another disabled child.
‘It was great when they said she was unaffected and already Ada is almost as big as Violet.
‘But that doesn’t stop her from being the best big sister and she always bringing Ada her toys.’
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