Girl, 4, mistaken for toddler due to rare disease affecting just 30 people worldwide – Mirror Online

Thank you for subscribingWe have more newslettersShow meSee ourprivacy notice

A four-year- is often mistaken for a due to a affecting just 30 worldwide.

Cocking still wears clothes designed to an 18 month old – and is only a few inches taller than her four-month-old sister, .

Cocking, 32, was concerned about her size from , but says medics were unable to find a cause for two and a half years.

But after months of turmoil, a genetic revealed Violet from St. Ives, , had microcephalic osteodysplastic primordial dwarfism type 1 – a genetic condition inherited from both .

Charlotte and her husband Robert, 43, unknowingly carried the dwarfism which meant Violent inherited the same defective from both.

Ada

Charlotte, who is a : “People assume Violet is a toddler so when I tell them her real , they at me with a very confused expression.

“Violet has settled well into reception but requires – she has a really good friend called 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 .”

Violet was born at 36 weeks yet she looked smaller than ever and weighed 2lb 15oz.

Charlotte added: “She was kept in NICU as she was unable to feed and could only stomach 50ml of 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 at six-months-old.

“She wasn’t much bigger than a pint glass at three-months old.

age
Read More

“Even she wears specially made which are a size two and a half for .

“But periodically she was fine, we had genetic and blood tests with the but the results were never abnormal – but I knew something was wrong.

“I researched the living hell out of her characteristics – she had curved fingers and puffy feet along with a really small .

“Dwarfism always popped up in a , but I assumed I was being daft until we had another test that involved a saliva swab from me, Rob and Violet, when she was two and a half.

“We were over to a diagnosis that revealed she has a rare form of an already rare form of dwarfism.”

The couple discovered a called ‘ with the Giants’ who have a specialist genetic that has diagnosed five with Violets condition in the .

All

was a 50 per cent Violet would be a carrier like each of her parents and a 25 per cent to not have the condition.

Violet is still currently reaching her milestones and despite her development being delayed, she did learn how to walk seven months ago.

Charlotte said: “I can’t but feel like I wasted the year of Violet’s obsessing with what is wrong with her.

“I feel guilty, but I was desperate to get an answer which is when I came across the charity group.

“I can’t thank them enough for their support and it is nice to be able to speak to other parents who have children with a rare form of dwarfism.

“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.

Babies

“Violet isn’t a typical , but she is and – 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 where she is familiar with.”

Read More

Top from Mirror

Charlotte feared her second Ada, now four months, have the same condition but a Chorionic villus sampling at 11 weeks confirmed she was born without.

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 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 .”

Related posts