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My
son with Lowe syndrome Thomas
is a walking miracle
Reproduced from
North West Magazine October 2003
Hampstead mum, Lorraine Thomas, set up a charity to help find a cure for her son and other little boys with Lowe Syndrome, an incurable genetic disease. Cathy Levy reports
Lorraine and her
husband were told that Oscar wouldn’t make it to his seventh birthday. He
was almost six years old and, their only son, had just been diagnosed with
Lowe Syndrome, an incurable disease that strikes only boys and results in
short life expectancy.
Thankfully, today,
he’s almost 10 and when we meet, his birthday is all he can talk about. Sat
close up to the television screen in the spacious ground floor kitchen, he’s
engrossed in a cartoon, only disturbed when Lorraine calls to him to come and
say hello. Like a whirlwind, he races over, flings his arms tight around my
neck and whispers loudly in my ear: “It’s my birthday soon! Have you got a
present for me?” He’s a cheeky, loveable little boy, like most Lowe
Syndrome boys, and again, typically, is very small for his age; closer in size
to that of a six year old.
For the past three
years, Lorraine has fiercely devoted her life to raising money for the charity
she set up to fund research into a cure for the disease. It was first
recognised as a disease in 1952 by Charles Lowe, now known to be caused by a
defective gene (OCRL1) that may occur with no family history. Boys are born
with cataracts in both eyes, hypotonia (poor muscle tone), they suffer from
autistic development and speech delay, epilepsy and most damaging of all,
kidney problems. “The reason that they die is really from the metabolic
imbalance in their body due to the lack of an essential enzyme,” says
Lorraine, matter of fact. Due to this malfunction, the kidneys dispose of
essential amino acids and proteins needed for the body to function
effectively, and results in soft bones, rickets, arthritis and poor growth.
After the shock of
the diagnosis, Lorraine searched the Internet and discovered there was some
hope: “I found out that some of the boys have lived until they’re 30,”
she says. “But most do die in their mid-teens.” In the end, the body gives
up. Although realistic, Lorraine says she can’t think about the future. She
repeats these words several times over and I change the subject, to the
incredible achievements she’s accomplished since launching the charity.
It’s taken her
on a journey, through a medical world she knew little of before. She began by
writing to Tony Blair who passed her on to Lord Hunt who passed her on to Sir
John Patterson, director of research and development. After meeting with him
twice, although supportive, he told her the government couldn’t help, and
put her in touch with other charities, except none of these supported medical
research. She then set up a scientific advisory board and placed an advert in Nature
magazine calling for research proposals. These swiftly followed and after a
peer review, resulted in several world-leading research projects that have
since just begun at Great Ormond Street, Imperial College, University College
London and Dundee University.
But these projects
could never have got off the ground without the successful fundraising events
so passionately organised by Lorraine. They’ve been featured in OK! and
Hello! Magazines and she even managed to persuade Jonathan Ross to become
a trustee, describing him as: “absolutely fantastic and a tower of
strength.” Patrons also include NW’s Jono Coleman, Vanessa Feltz
and Tony Hadley.
Each year, £50,000
minimum is needed to keep all the projects and research going. Funds also go
to the American Lowe Syndrome Association (a support network rather than a
fundraising arm, it desperately needs money). For Oscar himself, Lorraine does
everything she can including taking him to many alternative therapists. “I
work thinking that I’ve got to get a cure,” she says. It’s a huge
responsibility, but with such drive, determination and driven love, perhaps
it’s not such an impossible dream after all.
The Lowe Syndrome
Trust: 020 8458 6791
www.lowetrust.com