- 22:04, 9 MAY 2019
- Updated22:06, 9 MAY 2019
A mum has told of her admiration for her brave little girl who defied doctor’s predictions that she might never walk or talk.
Miley Timmermans was just two years old when her parents, Samantha and Jan were told she had a condition so rare that her parents had no idea what it was.
“When they first said it was CdLS I said ‘what on Earth is that?’ said Samantha, also a mum to Jayden, 10, and Bobby, age one.
“It was a bit of a relief when we found out, reports Lincolnshire Liv e.
Miley was diagnosed with rare Cornelia de Lange Syndrome (CdLS) and she has managed to defy doctors' expectations.
While she was late in learning – she can walk. The little girl can talk too – if only in three to five-word sentences.
Her mum has spoken of the family's "relief" in having a diagnosis they could work out how to live with.
“When she was six months old she went to hospital with a tummy bug and the nurses said: ‘why have we never seen this child before? She is tiny.’
“Once we had a name it was a relief as before that it was unknown so it was hard to know what they were checking for.
“Now we know to an extent what we are facing.”
The condition is caused by a genetic mutation and affects a person’s growth and causes speech and learning difficulties.
Samantha says there only 300 people have the condition in England.
In Miley’s case, she has grown at a much slower rate to her two brothers, who don’t have the condition, and also has learning difficulties.
There is not much information available about the condition, but there are cases where those diagnosed have gone on to live happy, independent lives.
And Samantha, a mum-of-three, says she is optimistic about her now-six-year-old daughter’s future.
It is hard to know,” said the 31-year-old when asked what to expect going forward.
“They couldn’t tell us if or when she’d walk. They couldn’t predict when or if she’d talk as a lot of children with CdLS don’t talk.
“At the moment she is exceeding all they said she would do.”
The family, who live in Fernwood near Newark, have been particularly grateful to the help and support of CdLS Foundation.
The not-for-profit organisation has proven to be a real strong network of support, providing the parents with information about the condition, as well as putting them in touch with doctors, who have worked closely with the syndrome before.
One of those was particularly helpful in helping a diagnosis being given for Miley.
However, the charity doesn’t get any funding and is reliant on donations from anyone who can.
Samantha and her family are keen to help and have held a number of fundraising events in the past.
Next on the list is a fundraising event at Miley’s school, Chute Ede Primary, where pupils will don the colour purple and donate a pound to help a cause so close to Samantha’s heart.
“CdLS get no funding from anyone,” she said.
“The foundation really have by providing the conferences they’ve really helped us understand Miley’s syndrome so much more.
“It helps other kids get diagnosed as well.”
To donate to the foundation click here.
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