• 0 ANNUAL SCIENTIFIC / FAMILY CONFERENCE 2010

    The fourth annual retreat takes place on the 3rd-5th July 2010 Our 4th annual retreat took place at the St. David's Park Hotel, Flintshire. Families and specialists come together from all across the globe for support, sharing experience, advice and love. We are so very grateful to this years retreat sponsor.   One of our attendees wrote this about our 2010 retreat....... "Having seen articles in the local newspaper regarding the blessing and commitment of Amy to Nick and having read about Cockayne Syndrome, Sarah and I felt that we wanted to help this charity in a small way by promoting it in our sweet shop and providing a sweetie buffet for their blessing night. We met Jayne and Amy on a few occasions and we came to admire this young girl who is such a pleasure to be around, she has got bundles of charisma and she will make you laugh and leave you with such a big smile. We also admired the dedication of Jayne and Mark who are so disciplined and focused in helping all the children who suffer from this terrible syndrome. Our daughter Lauren then befriended Amy and they started to enjoy having fun teenage times together by; going the pictures, watching DVD’s, shopping, sharing girly talk, reading trashy magazines and having sleep over’s. Our two families started to socialise more and we all became such good friends. So we asked Jayne if we could help out at the retreat, we knew it would be something special but at this point we did not understand how powerful a retreat like this is for so many people. On the Saturday we were not able to arrive at St David’s hotel till early evening so we missed a couple of the activities, but as soon as we got there we started to speak to some of the families and found out about their children and to our horror we found so many stories of many major difficulties that these children and adults with Cockayne Syndrome have had to endeavour over the years. Talking is a powerful tool, we found all the parents were willing to talk and inform us of their plight, which helped us understand more, so when we talk about the syndrome to anyone we have got more knowledge. Then in the evening the men and some ladies had their testosterone fuelled competitive edge filled, with an evening at the Karting track with Kevin Eeles coming out on top, much to the disapproval of Mark Hughes who lodged a steward’s enquiry, but had to admit defeat in the end, meanwhile the ladies were back at the hotel and relaxing and talking. Then upon returning from the track quite a few of the parents and volunteers went down to the lake to release some sky lanterns, which was a beautiful poignant occasion with many people remembering the beautiful children who had become butterflies. Everyone then just relaxed or went to bed which gave people time to talk and get to meet new families and volunteers. On the Sunday morning the whole group congregated after breakfast for the group photos, which if people were not close enough beforehand they certainly were after the photo. The organisation was there for all to see as Jayne and Mark expertly organised two coach loads of people to go to Chester Zoo and everyone returned as well. (Only just though, no names mentioned. haha). Whilst walking around Chester Zoo the volunteers helped families or walked around with families and spent time with them. For Sarah, Lauren and I we walked with the Laurie family who are such a lovely family and we walked and talked and looked at a few animals. We learnt a lot about Thomas, who became Lauren’s special friend. Lauren wanted to take Thomas home as he is such a sweet boy, especially when he swept the hair out of her eyes when the wind blew her hair in her face, followed by a little kiss on the cheek. An everlasting memory was made for me of this and will always be a special memory of mine. Upon returning to the hotel we had a bit of relaxation time before the question and answer time with the doctors. I really admire these doctors who travelled here from America and Strasburg, who then answered questions regarding the trials which are ongoing and any other questions that arose concerning the syndrome. These doctors epitomise the family feel that ran through this retreat, everyone is together with a common aim. To have doctors who are so high in their field of expertise spending time with these families at breakfast, around the zoo and mingling in all weekend, means so much to these families who put trust in them. The evening soon came around and after a couple of hours of getting ready, letting the girls work a treat on the make over’s and hairs, (Well enough about my evening) came probably one of the most special moments I have ever seen, which made me proud to be a part of this most wonderful and amazing group of people. Amy and Nicks blessing, Posh and Becks move aside, I have never seen a blessing where there was not a single dry eye in the place. The amount of light flashing from the cameras and people trying to just get a glimpse of the happy couple was to a point that I have only ever seen on television at these star studded movie opening nights. St David’s hotel was full of people who have supported the charity over the year and made this retreat happen with the money they have donated. The evening is a thank you to them people, from the families and doctors who without the support of such people would not be able to make the long journeys from the likes of South Africa, Finland, Holland, America, Strasbourg and all over the UK. This year’s retreat was made even more special by Nick and Amy having their blessing. CONGRATULATIONS AGAIN TO THIS WONDERFUL COUPLE, NICK AND AMY! The entertainment then went on and some fantastic acts performed on that evening, my favourite being Slapdash who are probably the funniest people I have ever seen perform yet have the most amazing voices. Yet as the night went on what you saw was all the relationships that had been built up over the previous couple of days shining through. The Spagnoletti boys rocked to the music, Cameron was the party king, Georgia was enjoying moving from table to table. The beautiful thing was that all these children got to dress up and be bridesmaids and Paige boys for Amy and Nick. Long lasting memories. The Monday morning came around and the retreat was nearing an end, but just before that there was a beautiful poignant memorial where people were asked would they like to light a candle for someone, many lights were lit. The retreat helps families who have lost children, it helps families with children/adults dealing with the syndrome, it helps the doctors to see so many of these children at one given time, it helps the children and adults dealing with the syndrome as they are such loving youngsters, it also helps the volunteers to understand more, which helps in raising awareness. At the end of the retreat the one thing that was evident was that everyone was asking when the next retreat is as it meant so much to so many people, we are keeping in touch with so many families that we met from the retreat. Even though there is sadness at the retreat, it helps that so many friends are around to share those experiences with. So we all thank Jayne and Mark and all the people who make the retreat the success that it is!!!!" Thank you from Darran, Sarah and Lauren.

  • 0 ANNUAL SCIENTIFIC / FAMILY CONFERENCE 2009

    The third annual retreat took place on the weekend of the 6th-8th June 2009. It was our biggest retreat yet, with families attending from South Africa, Australia, Germany, France, Spain as well as the UK.   We all had an amazing time together and it was wonderful to meet friends old and new and spend time with or thinking about our beautiful children. On saturday we had time to catch up with one another and meet our new friends from around the globe.Each family had an opportunity to have one to one time with our team of medical advisors whilst the children and their siblings were entertained by Professor Paulos who was alot of fun!! Thanks to Mike Povall and Owens Gym for arranging the Professor!! The dads, siblings and friends went out bowling whilst mums and the kids relaxed and chatted at the hotel.On Sunday, we went to the Liverpool Museum for our trip out and had a coach provided to us by Vauxhall Motors - much thanks to them!!     We then had time to ask more questions to the doctors before getting ready for our gala evening. We were joined this year by Wirral Taekwondo who entertained the families with pattern demonstrations, sparring and some board and brick breaking!!!     Also there were Funkstar dance troop!! Jimmy Rae and the band!     We also had alot of help at the event from Marks and Spencers who sold raffle tickets for a hamper and kept a close eye on our butterfly table - thanks to you!! And of course, two of our kids - Amy and Nick got engaged at the event and brought a smile and a tear to so many eyes!!   On Monday we held our remembrance service and the children lit candles for their friends in heaven and also for their new found friends in the group. We then said our goodbyes until next time - and we can't wait for that!!!!! Thanks once again to Jeans for Genes and all the other people who made this retreat possible - you know who you are!!. Further details and pictures from the retreat will be available in our Summer Newletter - coming soon!!

  • 0 Mark Gulvin ran the Windsor half marathon & Jack Longman ran the Hoylake 10k

    • News
    • by Administrator
    • 21-09-2008

    Mark Gulvin ran the Windsor half marathon - he ran 13 miles in an amazing 1 hour 50 minutes - CONGRATULATIONS AND THANKS FROM ALL OF US X.Jack Longman ran the Hoylake 10k also on Sunday - this was his first attempt and how fantastic he was! Approximately 43 minutes and Jack came about 15th out of around 600 runners - WELL DONE, YOU'RE A STAR X

  • 0 With great sadness little Rebecca passed away today.

    • News
    • by Administrator
    • 19-09-2008

    With great sadness little Rebecca passed away today. Click Here for Rebecca's Story

  • 0 Annual Scientific / Family Conference 2008

    The second annual retreat took place weekend 3-5th May 2008. We were joined by both new and existing families and it was a pleasure to see everyone there. Dr. Edward Neilan and Dr. Peter Kang joined us from Boston Children's Hospital, USA, together with Prof. Alan Lehmann and Dr. Vincent Laugel. It is hoped that children from the UK can enter into the existing trial being held at Boston Children's Hospital which it is hoped will alleviate our children's tremors, tightness of muscles and make walking a little easier - things that most of us take for granted. We will continue to raise money to enable this to happen. Meeting each other on the first day was like meeting up with your long lost friends and for the children - some of whom had never met another child like them this was an indescribably amazing feeling.  They reached out to each other with love, hugs and huge smiles - priceless.We enjoyed taking time with the doctors, then on to bowling for Dads and siblings whilst mums, grans, aunts and uncles stayed with the children having some catch up time.On Sunday we enjoyed our trip on the Mersey Ferries - thank you to Happy Days for organising this and also to the Ferries staff. On Sunday evening our gala event was incredible.  We were joined by Family Martial Arts who put on a display for us, Irish dancers who were wonderful and then by Jim and Zita from Slapdash - your voices are fabulous and you entertained us and made the children have a fantastic time dancing along and laughing all night. On Monday we held our remembrance service and the children lit candles for their friends in heaven and also for their new found friends in the group. We then said our goodbyes until next time - and we can't wait for that.Special thanks to Jim Mulholland for organising such a wonderful night and to everyone else - too numerous to mention - who helped us - you helped create a weekend that will never be forgotten and we for this we thank you.

  • 0 Somerville Primary School 'Mad Hair' Day raised £200

    • News
    • by Administrator
    • 20-03-2008

    Amy is pictured here receiving a cheque for £200 from Hannah and Jake who are pupils at Somerville Primary School. They held a 'mad hair' day in which pupils came to school with a variety or colours and hairstyles! Thank you children for doing this and for also inviting us to your assembly so that you could learn more about Amy and Cockayne Syndrome.

  • 0 CSA in Birkenhead raised £578.90

    • News
    • by Administrator
    • 29-02-2008

    Amy went to the CSA in Birkenhead to pick up a cheque for £578.90 in respect of a cake sale day they held. A BIG thank you to all of those who helped out and to Tracie for organising the event. Cheers, Jayne x

  • 0 Jayne Hughes and Penny Dear attended the House of Commons

    • News
    • by Administrator
    • 27-02-2008

    Jayne Hughes and Penny Dear attended a reception held at the House of Commons on Tuesday 26th February. This was held in connection with Genetic Interest Group, MP's and scientists hoping to bring "centres of excellence" to the UK for many rare disorders including CS - the centre of excellence being developed at St. Thomas/Guys Hospital, London. Further information on this will follow in due course.

  • 0 Good news from Dr. Peter Kang

    • News
    • by Administrator
    • 24-01-2008

    Good news from Dr. Peter Kang - his paper has been accepted and the story of Amy is to be published in summer 2008!!

  • 0 Wallasey Swimming Club raised £942.50

    • News
    • by Administrator
    • 16-01-2008

    January 2008 - We are pleased to confirm that Emma Jones and the Wallasey Swimming Club raised a huge amount of £942.50 and this is received with our thanks. Five huge kisses are being sent up to heaven for 'Little Man' who passed away 16th January 2008. For legal reasons he cannot be named but his wonderful guardian is in our thoughts for the love and care you showed him in his short life of 5 years. London UK. X X X X X