Mum’s USA trip to join other families fighting rare disease
A Yeovil mother who started a charity after her daughter was diagnosed with a rare disease is flying to New York to meet other parents in a similar situation.
Carol-Anne Partridge, 40, of Thorne Lane, first set up a Facebook group three years ago after her daughter Amber, now 7, was diagnosed with CDKL5 – a rare genetic disorder which results in difficult to control seizures and impairs her development.
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NOT ALONE: When Amber Partridge was diagnosed with a rare genetic disorder in 2009 there were fewer than 200 known cases worldwide. Thanks to support groups based on social networking websites more parents are aware of the condition. Amber’s mum, Carol-Anne travels to New York next week to meet foreign group members for the first time
When Amber was diagnosed in 2009, there were fewer than 200 cases recorded worldwide. The number is now growing, thanks in part to support groups like the one Mrs Partridge started to raise awareness of Amber’s condition.
Now the Yeovil mother will meet more 30 parents from three continents whose children also suffer from rare diseases. They all found each other through the Facebook group.
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Mrs Partridge leaves for New York on Thursday, February 28 which is also International Rare Disease Day.
She said: “At the moment there are 35 of us – three from Europe, two from New Zealand, three from Canada and the rest from the US – all meeting for a long weekend in New York.
“Parents join the group because they are told their child is the only one the doctors have ever seen with a rare condition. They join it for support but also to share experiences.
“For a lot of families, the group is the only support they get and that’s why this New York trip is so important. A lot of us have been friends for four or five years through social-networking and we are finally getting together.”
The Facebook group grew out of a similar Yahoo group and has just over 300 members from around the world, including Russia, Hungry and Denmark. Of these members, around 170 have children with CDKL5.
Last September Mrs Partridge obtained charity status for CDKL5 UK – a UK-based organisation which grew from the success of the Facebook group.
There are similar groups starting in other countries. All come under an umbrella organisation called International Foundation for CDKL5 Research – which is actively trying to find a cure for the condition.
Mrs Partridge said more scientists are becoming interested in CDKL5 and want to do research.
Great Ormond Street Hospital is setting up a clinic to take referrals of children with rare cases of complex epilepsy, and has recently agreed to include children with CDKL5.
She said the move will boost understanding of the condition with cases being recorded properly.
She said: “We were told Amber would never walk but now she can. That’s through her own determination and through us fighting – fighting for our child.”
For more information, visit www.cdkl5uk.org.
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