sue
New Member
Posts: 1
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Hello
Jun 17, 2012 7:55:45 GMT -5
Post by sue on Jun 17, 2012 7:55:45 GMT -5
My Name is Sue Taylor and I live in Lancashire. My Daughter Jenny has been diagnosed last year with AHC. She is 22 years old and we have had the condition since she was a baby. She was initially diagnosed at 3 years old but as she didn't display all the characteristics (So the experts said)n we had this diagnosis taken away after a year. In 2010 we had some genetic tests last year and were re-diagnosed then. She is now profoundly disabled and cannot do anything for herself. She is fed by a gastrostomy tube, has frequent seizures and has developed Dystonia after a major undiagnosed illness in 2009. Her brain, although damaged by years of illness, is otherwise normal and she can occasionally talk (usually after a seizure or when recovering from status epilepticus in hospital) and she has a wicked sense of humour. We trialled Flunarazine in 2003 but they stopped it as we were told she did not have AHC. She was reintroduced to a small 5mg dose daily in 2008 and have been on this ever since. She is also on Phenytoin, Pre gabalin, clobozam and tetrabenazine. We have recently started using adult services and her present neuro doesn't seem to be much help. We have been told she now has a limited life span and would be grateful for ANY help and information that might help her.
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Hello
Jul 16, 2012 4:02:24 GMT -5
Post by 1 sue on Jul 16, 2012 4:02:24 GMT -5
hi!
I am Sue -my dd is 28. We se prof Duncan at the National in London. We are happy with him. have you spoken to Gill she is the best for advice on AHc and drs. take care Sue
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Hello
Aug 4, 2012 1:31:11 GMT -5
Post by Thomas Way on Aug 4, 2012 1:31:11 GMT -5
Hi Sue, thanks for joining. I'm very sorry to hear about Jenny's health, and how late she was officially diagnosed. Have you met the Uk AHC support group yet? They are meeting this year in October. Jill Bailey organises the event and you can find her details here: ahcuk.co.uk/a-h-c-contacts/ My son Patrick is still only four and doesn't have the complications you describe, but perhaps someone at the meeting will be able to offer advice. There is a little good news. Researchers in the states have discovered the gene which causes AHC in around 70% of cases. This means they can now start working on an effective treatment or even a cure. I hope Jenny starts making progress soon. All the best Tom
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Hello
Aug 14, 2012 17:58:37 GMT -5
Post by jillbailey on Aug 14, 2012 17:58:37 GMT -5
Hi sue
Would you like to email me. I run the support group in uk. My daughter is 25
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Hello
Aug 16, 2012 16:16:41 GMT -5
Post by jillbailey on Aug 16, 2012 16:16:41 GMT -5
As our children's condition is so rare it is important that we share information. Our family meeting for 2012 is on 27 th October at The National Centre for Epilepsy, Chalfont St Peter, Bucks. Prof. Sisodiya will be talking about the recent discovery of the gene that causes AH. Prof. Brian Neville is attending also. We are hoping to take blood samples, photos and possibly nerve tests for the research. To meet other families with AH is beneficial to everyone. Anyone is welcome to attend. Please contact me on jill-bailey@ live.co.uk My hope is that everyone in the UK is connected together to share their experiences and help each other.
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Hello
Aug 16, 2012 16:28:24 GMT -5
Post by jillbailey on Aug 16, 2012 16:28:24 GMT -5
My daughter, Lucie is 25. She was diagnosed at 11 months with AH. She walked at two years and speech was slow at first but by the time she was five she had caught up. Lucie went to mainstream primary school and a girls school for moderate learning at 11 years. She left school at 16 and went to college. Three years later she went to Drama college. Her attacks would be each week and last upto four hours. She was fully mobile and could look after herself apart from when she was having a 'hemi'. In October 2009 she came down with a cold and had a hemi. She was in and out of an attack or two days. On the third day she woke up and couldn't move, speech gone, swallow reflex gone and she had a rash on her upper body. In hospital they said it was a virus!!! She has never recovered. Lucie can no longer stand up, she has movement in her left hand and arm, right hand works and has head control. Upper body control is weak. There is no explanation as to why she never recovered. She has had MIR scans, EEG's, nerve conductor tests and transcranial magnetic screening but no answers. Does anyone looking at this site know of this happening with anyone else with alternating hemiplegia. If yes, please contact me
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