Search

Romford mum hopes to raise funds so ‘first case of Loeys-Dietz Syndrome in UK’ Alfie, four, can be treated

17:00 20 November 2012

Alfie Thorn is believed to be among the first people in the UK diagnosed with Loeys-Dietz Syndrome

Alfie Thorn is believed to be among the first people in the UK diagnosed with Loeys-Dietz Syndrome

Archant

The mum of a brave Romford boy with a rare condition is appealing for help getting him treatment in America.

Four-year-old Alfie Thorn has Loeys-Dietz Syndrome – a genetic disorder that leaves him prone to vascular and tissue problems including life-threatening aneurysms.

The syndrome is so rare staff at Great Ormond Street Hospital have told Alfie’s mum Charlotte he could be the first person in Britain to be diagnosed with it. The diagnosis only came after four years of health problems, and the results had to be verified by German experts.

But it’s a different story in America, where there is specialist treatment available and a dedicated foundation that provides support and information.

“They’re still learning in Britain,” said Charlotte, 26, of London Road. “They do a lot of conference calls to America. He needs to go out there where there’s someone who knows about it.”

Alfie’s diagnosis was “a relief” to Charlotte, who finally felt her concerns were justified and that treatment could begin.

“It’s frustrating because there’s not a lot known about it,” she said. “But it’s more of a relief now he’s been diagnosed because I know I can fight for more treatment.

“We had to wait four years to be diagnosed even though we knew there was something wrong.

“He went through so much – he was in and out of hospital and they never picked up on it.

“They kept doing all these tests and saying I was just a worried mum.”

But for nursing student Charlotte, the problems were obvious.

“He didn’t start walking until he was two,” she explained. “He had his fingers fixed together and I had to massage him at him to get them to open up.”

Little Alfie has also developed an aortic aneurysm – a dangerous build-up of pressure in the wall of his main heart vessel – as a result of the syndrome.

Now Charlotte wants to fundraise to get her son seen by specialists across the Atlantic.

“I’d love to fundraise so he can be seen in America,” she said, “and for research so I don’t lose my little boy to this.”

Charlotte also believes there may be other families in Britain affected by the condition but struggling to get it diagnosed because of its rarity – the US foundation estimates between 300 and 500 people have it worldwide

“I want to set up my own Loeys-Dietz syndrome web page as there’s only an American one,” she explained.

If you would like to get in touch with Charlotte, contact the news desk on 020 8477 3878 or e-mail news.desk@romfordrecorder.co.uk.

0 comments

Latest Romford News Stories

57 minutes ago
Redden School Pupils Joshua Kirby, George Attrill and Amy Horsely with headteacher Paul Ward

Four smart pupils have been awarded membership to an exclusive society, reserved for people with the highest IQs in the country.

Kent Police are investigating after a man was stabbed in the chest Met Police officer. Picture: Nick Ansell/PA Archive

A Romford man has been arrested after a man in his 50s was stabbed in the chest in Kent.

A GP checking a patient's blood pressure. Photo: Anthony Devlin/PA Wire/PA Images

A doctor’s union representative has said the government is “totally wrong” for trying to force GPs to keep their surgeries open for longer.

Mohamed Omer, founding member of the Muslim Gardens of Peace in Hainault

Proposals for land to be converted into a Muslim cemetery – with up to 10,000 burial spaces – has been given the green light.

13:30
Crowlands Primary School choir performing at the Young Voices Concert at the O2

Pupils at a primary school had an incredible experience singing with thousands of others in one of the capital’s most iconic venues.

Emergency services at the scene of an explosion at the flats in Hornchurch. Picture: PA Wire/PA Images/Victoria Jones

Police have confirmed that a possible cause of the explosion yesterday was the ‘preparation of a type of drug’ in the flats.

The aftermath following the explosion last night at the block of flats in Hornchurch. Picture: Ken Mears

Here are the latest pictures from the explosion in Hornchurch last night.

Scene from the Hornchurch explosion. Picture: Jack Duggins

Two men have been arrested on suspicion of arson following the explosion at the block of flats in Hornchurch last night.

Newsletter Sign Up

Most read news

HOT JOBS

Show Job Lists

News from your area

WW100

Click on the banner above for full coverage of the centenary commemorations of the outbreak of the First World War.

Competitions

Are you in need of a new kitchen? Try our competition and you could win a brand new one!

Having a brand new kitchen is something that lots of people want but can only dream of. Sadly keeping up to date and making our living spaces as nice as they can be is a costly and incredibly stressful business. Even a fresh coat of paint makes all the difference but isn’t easy or quick.

MyOffers H&M Competition

Who wouldn’t love the chance to go on a shopping spree. Imagine being able to walk into a shop and choose whatever your heart desires without having to worry about how much it costs.

Digital Edition

cover

Enjoy the
Romford Recorder
e-edition today

Subscribe

Education and Training

cover

Read the
Education and Training
e-edition today

Read Now