Brave Little Girl Battling Rare Condition Defies Doctors’ Predictions In Best Way
An elated mom has told of her admiration for her brave little girl who proved doctors wrong that she might never walk or talk.
Lincolnshire Live reported that 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. Samantha recounts:
”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.”
The little girl was diagnosed with rare condition called Cornelia de Lange Syndrome (CdLS) and she has managed to defy doctors’ expectations. While Miley was late in learning – she can walk. She can talk too – if only in three to five-word sentences.
Samantha, a mom-of-three has spoken of the family’s “relief” in having a diagnosis they could work out how to live with. She says:
“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 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. 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. She further stated:
“CdLS get no funding from anyone. 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.”
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What is CdLS?
Cornelia de Lange Syndrome (CdLS) is a genetic disorder present from birth, usually not inherited. It is usually due to an acquired change (mutation) in one of seven important developmental genes at or shortly after conception.
The signs of CdLS may be obvious from birth or even prenatally, especially if severely involved, but may not be diagnosed until the child is older when it is milder. It causes such a broad range of potential physical, cognitive and medical challenges that it is now known as the CdLS spectrum disorder.
CdLS does not discriminate— it affects both genders equally and it’s seen in all races and ethnic backgrounds. The occurrence of CdLS is estimated to be 1 in 10,000 live births, but because it is so variable, could remain undiagnosed.
It typically affects: growth, with smaller body and head size; skeletal system, with smaller hands and feet or missing forearms and fingers; development, with delayed development, intellectual disability or learning disabilities; behavior, with ADHD, anxiety or autistic features; and internal body organs including the GI, cardiac, genitourinary and neurologic body systems.
Testing for the gene change will be positive in about 80% of individuals with CdLS, but a clinical evaluation with a geneticist should be diagnostic.
Source: cdlsusa.org/what-is-cdls/
Photo credit: Samantha Timmermans