Tuesday, 25 March 2008
Trials for a new drug are about to begin in a bid to help people with a genetic disorder that can cause unusually excessive height and a weak cardiovascular system. There is no cure for Marfan Syndrome – but the drug could help cut the number of deaths from heart failure.
Two-year-old Liana Grundy standing next to two other children her age Liana Grundy towers over other two-year-old children
What do you do when you are two years old and tower over all your playmates?
Liana Grundy is so big she cannot fit into her pushchair. High chairs will not hold her – and child seats on shopping trolleys are just a no go.
Liana is 3ft 7in tall (1.09m). That is more than half the height of her mother Donna, 24, and nearly one foot (0.3m) taller than the average two-year-old.
“Because she’s so tall it’s like her brain is telling her she’s a two-year-old but her body’s telling her she’s older,” Mrs Grundy said.
v “It does scare me a little bit because she’s half my size already – and she’s done that in two years.”
But being different – even at two – means being noticed.
Two-year-old Liana Grundy who has Marfan syndrome Liana Grundy’s mother says people question her about her daughter Other parents who see Liana often question her mother about her in the street, asking why she is still in a pushchair when she looks like a five-year-old. Others believe she is an older child with learning difficulties.
“It’s heartbreaking,” said Mrs Grundy, from Hampshire.
“Like any mum I’m extremely proud of Liana and I want to show her off to the world. But because she looks about four or five people thinks she’s backward, but she’s not. She’s a very bright little girl.”
Liana is off the scale on all the usual growth charts – and Mrs Grundy is now asking if perhaps it might be something more than simply tall genes.
“I have been told I have to send her to hospital for tests – for something called Marfan Syndrome,” she said.
“Basically that’s excessive growth – with skinny appearance, heart problems, eyesight problems so it’s extremely scary.”
Marfan Syndrome is a genetic disorder that affects about one in one in 5,000 people. There are about 10,000 people with Marfan Syndrome in the UK.
Before and after x-rays of Naomi Smith’s curvature of the spine
Naomi Smith has undergone surgery to correct her curved spine
Often it results in a very distinctive physical appearance. People with it are usually tall – 6ft 7in or 6ft 8in is not uncommon.
People with the syndrome also tend to have particularly long slender limbs, fingers and toes, and long thin faces.
More worryingly, they can also have serious eyesight problems and potentially fatal heart defects, due to their excessive growth.
Consultant geneticist Paul Brennan, who runs a Marfan Syndrome clinic, says sometimes the symptoms are overlooked.
“I think it’s true there are people with mild Marfan Syndrome who are out in the community and unfortunately they suffer the heart consequences as well, and every year many people die unnecessarily as a result of Marfans,” he said.
Seven-year-old Naomi Smith was diagnosed several years ago, and has just returned from hospital and the first of 15 operations over the next six years to correct scoliosis, or curvature of her spine.
Naomi Smith in hospital for surgery to correct curvature of her spine due to Marfan syndrome Naomi Smith, seven, will need another 14 operations
Watch Naomi’s You Tube film(The BBC is not responsible for the content of external sites) Surgeons inserted titanium rods into her back, which will be extended as she grows. She is currently 4ft 7in (1.4m) tall.
Her mother Rachel Smith, from Bedfordshire, said: “People don’t understand the impact of a genetic condition – it’s something you have to live with the whole of your life, and embracing that is very important.
“It’s something you need to do as a parent – or someone with Marfans.”
The Marfan Association, based in Fleet, Hampshire, recently held its annual information day at St George’s Hospital in London.
About 80 people were there – the youngest diagnosed patient was two, the eldest was 84.
Association chairman Diane Rust said: “People with this condition can often feel isolated. Meeting others helps them realise they are not alone – they gain confidence and are better able to cope with their problems when they return home.”
There is no cure for Marfan Syndrome but trials of a new drug – Losartan, which could help reduce the number of deaths from heart failure – are due to begin in May.
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