April 23 2014 Latest news:
Tuesday, November 20, 2012
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 firstname.lastname@example.org.