Amy and Friends - Cockayne Syndrome Support Amy and Friends - Cockayne Syndrome Support
























Bertie Butterfly is kindly sponsored by Holly Lodge School for Girls, Liverpool.

 

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IMPORTANT DRUG INFORMATION

Metronidazole (also known as Flagyl® or Metrolyl®) may cause acute liver failure in children with Cockayne syndrome and should be avoided. Please alert your doctors to this.

Health professionals can obtain further information from Dr. Brian Wilson brian.wilson@newcastle.ac.uk Any further drug reactions in this patient group should be reported to the regulatory authorities in your own country.
  
 
Latest News 

Latest News about Amy and Friends
Pep ♥ Amy & friends: CADA PAS, UN LLARG CAMÍ
Pep ♥ Amy & friends: EVERY STEP, A LONG WAY

En Pep

En Pep va néixer el 28 d’octubre de 2010, i és un nin actiu, divertit i molt afectuós. Li encanten els animals, anar a escola, la seva germana gran i els seus amics, i les noves tecnologies. És dolç, valent, i moltes altres coses...a més, pateix una malaltia rara, molt rara: la síndrome de Cockaine.

Des del dia del seu naixement, els metges van detectar una pèrdua auditiva greu, i al cap de pocs mesos, fou operat de cataractes a ambdós ulls. Des de llavors, i fins que en Pep va fer 5 anys, va passar per nombroses proves, intervencions i especialistes, fins a arribar al diagnòstic.

Una mutació al gen ECCR8 és la causant d’aquesta patologia greu, degenerativa i per a la qual no existeix cura coneguda.
 
Pep was born on October 28th, 2010, and is an active, fun and very loving child. He loves animals,going to school, his big sister and his friends, and new technologies. He is sweet, brave and many other things ... besides, he suffers from a raredisease: Cockaine's syndrome.

From the day of his birth, doctors detected a serious hearing loss, and a few months after, he wasoperated on cataracts in both eyes. Since then, anduntil Pep was 5 years,he went through numeroustests, interventions and specialists, until thediagnosis:

A mutation to the ECCR8 gene is the cause of this severe, degenerative pathology and for which there is no known cure.

Amy and Friends: la xarxa de suport arreu del món

http://www.amyandfriends.org/
 
Quan vàrem conèixer el diagnòstic d’en Pep, ara ja fa un any, vàrem saber també que la seva síndrome és orfe de tractament i està molt poc investigada, degut als pocs casos que hi ha. Els metges que duen el seguiment d’en Pep, tant aquí com a Barcelona, no havien tractat abans un infant amb Cockaine. La sensació d’aïllament i d’incertesa fou enorme...

Però vàrem tenir la sort de trobar l’associació britànica sense ànim de lucre Amy & friends, la qual serveix de plataforma mundial per al contacte entre les famílies i els investigadors.

N’Amy és una al·lota de 25 anys que va estar sense diagnòstic fins als 15, quan als Estats Units van aconseguir posar un nom al què patia. Sa mare, na Jayne, va decidir crear una associació precisament per a què les famílies -ja diagnosticades o amb sospites de CS- tenguessin un lloc de trobada, un espai on compartir els dubtes i les incerteses tant de caire metge com de qualsevol altre mena.

Amy and Friends, a més, treballa amb els investigadors que duen a terme els seus estudis en l’àmbit de les patologies genètiques relacionades.Gràcies a això, el mes de maig de 2015 es va publicar l’estudi més complet sobre la síndrome, que recull 102 casos de tot el món:

http://www.nature.com/gim/journal/v18/n5/full/gim2015110a.html

L’associació organitza anualment un encontre mundial de famílies i investigadors, el qual permet el contacte directe, la transmissió dels nous coneixements i, quasi més important, la trobada d’infants amb CS.

En Pep va participar al darrer encontre, a Manchester el novembre de 2016, i per ell –i per noltros- va ser la primera vegada que vàrem conèixer altres infants amb CS. Fou realment emocionant i enriquidor. I per en Pep, molt divertit.

Des de llavors, duim entre cella i cella posar el nostre gra d’arena a la tasca altruista que du a terme Amy and Friends, i hem decidit posar en marxa la campanya Pep♥Amy & friends: cada passa, un llarg camí.
Amy and Friends: the network of support all over of the world

http://www.amyandfriends.org/

When we knew the diagnostic of in Pep, a year agonow, we knew also that his syndrome is orphan of treatment and is very little investigated, due to the few cases that there are. The doctors who carry the follow-up about Pep’s disease, here and in Barcelona, had not treated a child with Cockayne Syndrome before. The feeling of isolation and uncertainty was enormous...

But we had the luck to find the British association Amy & Friends which is a world-wide platform for the contact between the families and the researchers.
Amy is a 25 years old girl who got her diagnosis at age 15. Her mother, Jayne, decided to create an association precisely for the families who have achieved to get a diagnostic or at last a suspicion of CS, to have a place to meet, a space to share their doubts and the uncertainties in medical matters or any other.
 
Amy and Friends, besides, works with the researchers that carry out their studies in the field of the genetic pathologies related to it. Thanks to this, the month of May of 2015 they published the most complete study of the syndrome, that collect 102 cases of all the world:

http://www.nature.com/gim/journal/v18/n5/full/gim2015110a.html

The association organises annually a world-widemeeting of families and researchers, which allow thedirect contact, the transmission of the newknowledges and, almost more important, the meeting of children with CS.

Pep took part of the last encounter, in Manchester in November 2016, and for his sake –and for the family- it was the first time that he knew other children with CS. It was really thrilling and enriching. And For Pep, very fun.

Since then, our goal is to put our grain of sand to the altruistic task that carries out Amy and Friends, and have decided to put into motion the campaign Pep♥Amy & Friends, every step, a long way.
 
- Com pots col·laborar
Hem dissenyat una braga tipus buf pel coll, amb l’objectiu tant de recaptar fons per aquesta associació com de donar a conèixer la síndrome de Cockaine: les malalties menys freqüents segueixen essent les més oblidades.

”Cada passa, un llarg camí” perquè tot el què aconsegueixen aquests infants requereix d’un enorme esforç.

Ens faria molta il·lusió veure que lluïu els bufs d’en Pep i n’Amy, i més encara si els duis cada vegada que vos enfrontau a un nou repte, a un gran esforç. Quan doneu el millor de vosaltres, igual que fan en Pep i n’Amy cada dia, per a cada cosa que fan.

El 12€ que pagau pel buf aniran íntegrament destinats a donar suport a aquesta organització.

Gràcies!

How you can collaborate

We have designed a kind of mountan scarf, with theaim to raise found for this association and to spreadknowledge about the syndrome of Cockayne the less frequent illnesses keep being the most forgotten.

”Every step, a long way” because all these children's achievements require an enormous effort.
It would be a great pleasure to us to see you wearing the scarf of Pep and Amy, and even more if you wear it every time that face a challenge. When you give your best, the same that Pep and Amy do everyday, for each thing they do.

The €12 that you pay for the scarff will go entirely dedicated to this organisation.
Many thanks!

If you would like to order scarf please email us: info@amyandfriends.org

  Feb 2017 - We would like to introduce you all to our new Patron Jayne O'Gorman. Jayne has undertaken many different projects for charities and has raised a phenomenal amount of money. Jayne is organising a ball on 7th July at Chester Grosvenor to help Amy and Friends and she is doing her best to make people aware of Cockayne Syndrome. Jayne is Managing Director of Azurecollection.com

We're so happy to have Jayne on board.

Introducing:

GenIDA, an online study for CS patient and families

The GenIDA project is a cohort study for genetic diseases whereby clinical information is entered and updated by the family themselves. The aim is to collect medical data to help gaining better knowledge on the evolution of the disease over life. This is so useful in Cockayne syndrome because of the low frequency of the disease and the geographical dispersion of the patients.
Two online questionnaires allow providing and updating the relevant health information: a CS specific questionnaire (15 questions) and a main questionnaire (46 questions). The data are kept anonymous and are stored on secured servers hosted in France.

Anonymous summary of the data will be publicly available for families and for health care professionals. We hope that these novel and medically significant knowledge can be translated in improved healthcare and that this e-cohort will favor international clinical studies

The more regular participants, the more informative will be the results.

https://genida.unistra.fr/

For further information please contact Dr Nadege Calmels :
nadege.calmels@chru-strasbourg.fr
2016

Amy and Friends 9th annual family/scientific conference takes place at The St. David's Village Hotel, Flintshire (near Chester), UK. If families would like to attend please can they contact jayne@amyandfriends.org for a registration form and an itinerary. We are so excited to see you all.
Amy and Friends are working with BBC's Children in Need to raise awareness of vital work for children/young people undertaken by both organisations.
Amy and Friends attended UK Genetic Disorders symposium. Much information was gained and many new vital contacts made.
Local football team Millwall FT are working hard to raise awareness and vital funding for Amy and Friends.  
  28-29th May 2016 - We also have wonderful volunteers running, zip-wiring, entering Tough Mudder and our very own Ella Barden who suffers from Cockayne Syndrome climbed Snowdon with family and friends.
September 2015 - Medical paper published - with thanks to many families who took part in this - please use this to pass to any specialists who have dealings with your child. 
September 2015 - Our annual family/medical conference took part in September - this year we added a scientific conference and doctors/specialists attended from across the world to form a cohort team working together to further advance research. 
 
 
 
 
  September 2015 - Team Amy and Friends completed Tough Mudder - you guys are amazing!
 
June 2015 - Ewan (Forrest) Gordon ran John O'Groats to Lands End supporting Amy and Friends in memory of Thomas Laurie - what a total superstar.  
May 2015 - Thank you to everyone for taking part in the Superhero Run in Regents Park - you are our Superheroes! 
  May 2015 - Premier Sports versus The Army at Chester Dale
Barracks had a charity football match and raised £1,666 fantastic!
Well done everyone - especially Eamon
:(
 
May 2015 - Massive thanks to Jemma and Leanne for organising charity auction - £600 - well done lovely ladies.
April 2015 - the wonderful Judi O'Donnell ran the New York Road Race for Amy and Friends....what a superstar!  
March 2015 - Our supporters The St David's Village Hotel raise a massive £6500 by holding a One Direction Tribute day - what fun we had! Thank you to everyone - and special thanks to our Ambassador Jill Kays.
January 2015 - Special thanks to our Ambassadors Take@That and and a The Glen Leicester for raising £2,500 woohoo and also to The Black Horse Blackburn for raising £1,500 - special thanks to Grace Knowles' family ❤
Jan 2015 - Amy and Friends North America is launched......! Wishing everyone love and peace for 2015.
November 2014 - Amy and Friends will be featured on BBC1's Children in Need on the 14th Nov 2014.
  October 2014 - Families were overjoyed to be together at this year's retreat - families got to meet from across the world to share love and experiences and were cocooned in constant love.

We would like to thank everyone who has made this possible and also the medical professionals who constantly support us all year round.......
March 2014 - Amy and Friends began discussions to partner with the wonderful Phil Packer MBE and the Brit Trust - exciting news indeed!
March 2014 - The fabulous Take@That became Ambassadors for Amy and Friends and we received a lovely message from their friend - X Factor winner - Sam Bailey!
March 2014 - Our wonderful friend Jace became an honorary member of the police force! We're so proud!  
  March 2014 - Ewan and Jason ran the Liverpool marathon raising money for Amy and Friends via our fantastic support group Running For Thomas Laurie.
 
February 2014 - sad news that we lost our dear friends Caleb, Daniel H, Daniel T, Thomas L and Knox C. You boys remain in our hearts for the rest of time......
February 2014 - a massive THANK YOU to the Morgan Foundation for their kind donation of £10,000 towards our 'We Are Family' conference to be held in October 2014.
January 2014 - sad news that beautiful Jemima passed away....beautiful girl we will think of you always.
December 2013 - Amy and Friends enjoyed a Christmas party at the Ufford Park Hotel kindly organised by the Barden family and our Ambassadors Mike and Amy.
December 2013 - Chloe and Nyah organised a sponsored walk along New Brighton promenade - thank you!!
October 2013 - a huge THANK YOU to Rydal Penrhos Community Choir for a fabulous evening if entertainment!
October 2013 - A huge thank you to the Honeybun family/Rydal Penrhos Community Choir and friends for raising a whopping £1425.36 - we had an amazing night and it was lovely to see Thomas Burton and his Mummy and Daddy there too!
October 2013 - Declan Stephen - a huge thank you for raising £107.41 - Declan is a friend of Thomas Laurie.
October 2013 - Amy and Friends Halloween party was a great hit and all of the children (and parents!) had a spooktacular time!  
 
September 2013 - Our 7th annual family/medical conference took place with international families and specialists attending. This was the largest gathering of CS families in the world and it was just wonderful for children and families to come together to receive support and advice.

A huge thank you to everyone who supported us with donations to hold this event and for giving your time up to help too!
September 2013 - Over 30 fabulous people plunged from the sky in a huge skydive jump for our wonderful kid's and families - including Ella and Chloe's crazy (but lovely) Mummy and Daddy! Thank you to everyone involved!
August 2013 - Thank you to lads drama at Showhits who did 4 nights of performing whilst raising much needed funds for Amy and Friends.
August 2013 - Well done to all who organised and supported The Butterfly Fete in Essex raising a wonderful £941.80!
August 2013 - Our beautiful TV cutie Knox has recently had a porch created at his home, thanks to Make-A-Wish Foundation.
  August 2013 - Thank you to Matalan for allowing our wonderful volunteers to raise awareness and funds in their Bromborough store all weekend. Here is Amy who enjoyed telling everyone all about her amazing cause!
 
July 2013 - Look at who made an appearance at the Witham carnival! We are sure every one loved meeting Bertie Butterfly and looking at the Amy and Friends float created by the Barden family.  
 
Love Has Wings Official Trailer
 
July 2013 - Please take a look at the amazing trailer for Love Has Wings - Filmed and created by an amazing young lady called Madeleine, who is big sister to earth angel Knox.
 
June 2013 - Many of our brothers and sisters enjoyed spending the day together at Alton Towers Theme Park for the Amy and Friends siblings’ day. The day gave the siblings some time to be with others in similar situation to themselves, they spent the day sharing love, laughter and happiness!  
 
June 2013 - Beautiful Janaya passed away peacefully at her home surrounded by her family, at the young age of 5 years.
June 2013 - Our beautiful and brave Hanifa has left to play with her butterfly friends in the sky.
June 2013 - Sky angel Ralph’s fab Mam and Dad took part in a 35 mile bike ride to raise money for Amy and Friends!
June 2013 - Amy’s lovely Uncle John is celebrated 65th birthday and retirement by having a party and raising money for Amy and Friends - at the last count they were over £3000 - thank you so much!
June 2013 - Thank you to butterfly Zach’s family for helping raise funds and awareness for AAF with a tea party in Zach’s memory.
June 2013 - Thank you to all the Witham shoppers supporting Amy and Friends!
June 2013 - Many thanks to the lovely newlyweds and their wedding guests in Essex that asked their church to donate half the donations to Amy and Friends after reading Ella's story! Thank you so much and many congratulations xxx
May 2013 - Beautiful girl Tala has gained her shiny butterfly wings and left for Heaven, she will be forever missed.

A huge thank you to one of our friends - Zita - who raised £400 for us celebrating her 50th birthday and asking for donations instead of presents. Wow - fantastic - thanks to everyone who donated.

Well done to all the brave bungee jumpers at the Red Beret who took the leap of faith all in the name of our charity!
  May 2013 - Big well done to all who took on the mud race, you all did so well!

May 2013
- A huge thank you to everybody involved with the fayre in Silver End, they raised an amazing £633 for Amy and Friends.

April 2013
- Brave Elias has spread his wings and gone to join his friends in Heaven.

April 2013
- Congratulations Amy and Friends Netherlands - a documentary about CS has won the most nominations and awarded then €500 woo hoo - well done everyone involved!!!
April 2013 - Thank you to all the fabulously kind people at Glenburn Sports College for raising £349.36 for Amy and Friends xXx  


  April 2013 - Our superstar Kevin has finished his cycle from Paris to London raising money for Amy and Friends (210 miles) yay!! 

JustGivings Donations
April 2013 - Here are a very happy Simon and Amy after collecting a cheque for £2000 from Gregg's the bakers!!! Thank you for supporting our wonderful families.  

March 2013 - Please read Sophie's story and why your support means every thing to us


March 2013
-
What an amazing day we had at Waurnarlydd Primary School for Carly Day . Carly I'm sure you where there with us watching your friends in the talent show/Easter bonnet parade/decorating the school. A huge thank you to everyone - An amazing £4575.60 raised - FANTASTIC - THANK YOU XXX

  March 2013 - A huge thank you to Nina and Natalie who ran the Colchester half marathon and raised £580 for us in honor of Ella.
March 2013 - A huge thank you to Soraya and Steve Barron who ran a half marathon for AAF in honor of Ella - looking good you fantastic 3! Xxx  

March 2013 -
A huge thank you to Steph Watson and her work colleagues that raised £170 at their cake sale! Fantastic thank you xxx
NEW The Jeremy Kyle Show Mother's Day Special
 
March 2013 - Lovely Ella and her family made an appearance on the Jeremy Kyle Mothers Day Special - To learn more about Cockayne Syndrome and Ella's story go to 31 minutes 40 seconds and watch the 10 minute clip
March 2013 - A huge thank you to the Sandon School girls for raising £252 at their fundraising day, thank you so much xxx

March 2013
- Just over £3000 was raised for Amy and Friends at the Butterfly Dinner Dance , thank you so much to everyone who came, all the raffle prizes donated, and Ella and her family for organising such a wonderful night!

March 2013
- Phil at Essex drive throughout February donated £1 for every lesson he taught and raised a fab £160 a huge thank you from Amy and friends! Xxx
March 2013 - Heaven has a new angel....fly free Wilson - all of your friends are waiting for you. Love and strength to your wonderful family xxxxx

Thank you to everyone who supported Amy and Friends at the Casino night fundraiser – Lucy and all at the Grosvenor casino certainly made it a night to remember!
February 2013

Congratulations to Ella Barden , family and friends for raising £1000 at their quiz night - well done guys!! X

A huge thank you to Powers Hall Infant School for raising £540 doing a cake sale in honor of Ella and also to the Catholic Mother's Group for raising £350 in honour of Thomas L. FANTASTIC!!! X

A HUGE thank you to Borno Chemists Limited in Witham, Essex who are donating £1200.10 to Amy and Friends.

Sweet lady Rocio aged 35 years lost her battle with Cockayne Sydrome and went to join her sister in Heaven... Fly free angel
  Here are some of the mums at the 'Mums day' some have children in heaven and some have children who will be going to heaven – This one day gave them chance to be together and make lovely memories.

February 2013 - Heaven has another beautiful butterfly. Daryl has his shiny wings - free to fly now sweet boy

February 2013 - A huge THANK YOU to Powers Hall Infant School for raising over £500 for Amy and Friends on behalf of the very lovely Ella Barden

February 2013 - Amy and Friends Netherlands is now official! Thank you for your hard work Danielle and Mark and for helping children and families.  

January 2013 - Happy New Year to everyone.....news of our latest research programme will be following soon....

January 2013
- Sweet Bella gained her beautiful butterfly wings and flew to join her friends in Heaven.

January 2013 - Family and Friends of sky angel Taylor-Louise all joined together in a sponsered walk to celebrate Taylor's 6th birthday and raise funds for Amy and Friends. Thank you to every one inolved, we are sure your little lady is so proud of you all.

  Our amazing Mummy Jodie had her head shaved today to raise awareness for her gorgeous Ella/CS/Amy and Friends - Congratulations we're so proud of you xxx
A HUGE thank you to Aaron's family and friends for their amazing donation of $2000 in memory of our buddy  

January 2013
- Ella and her Mummy appeared in a heartbreaking interview on ITV
  December 2012 - Remembering our beautiful children who became angels in 2012 and wishing everyone love and peace for 2013. Much love to you and yours xxxxx
December 2012 - We received a beautiful message......a little girl called Abi sold some of her toys on eBay and raised £60 which she has paid into Amy an Friends. She is a friend of the Laurie family and did this for Tom and the CS children. Abi you are wonderful. THANK YOU XXXXX

December 2012
- A huge thank you to everyone who trekked Snowdon, battling to horrendous rain, hail and gusts of 60mph - WELL DONE - we're so proud of you! Ben and Mark Hughes, Gill and Mike Carrick, Alan O'Connor, Reece Wade, Colin Williams and - last but not least Christian Rich for organizing too!

December 2012 - Sad to hear our friend Mikey lost his battle with CS. Fly free Mikey, you will never be forgotten.

December 2012 - A huge thank you to everyone who came to our VERY noisy Christmas party fundraiser - with Barclay's help we raised £2882.46 - YAY!

December 2012 - Here's our hero Thomas L meeting the Duchess of Cornwall yesterday. Tom was chosen to go to Clarence House to decorate the Christmas tree. What an honour for you and truly deserved young man!  

December 2012
- Aaron you finally have the freedom you wanted my friend. Fly fly and enjoy every second.

December 2012
- A HUGE thank you to the guys at New Reality Limited for making such an amazing video for us and for capturing such wonderful moments with our children and families
 
Cockayne Syndrome
 
November 2012 - Our new siblings club 'My Time to be Me' is every Monday night in Wallasey. This is open to any sibling age 5-15 who has a brother or sister with a life limiting/life affecting illness so please pass this on to any parents/siblings you know and ask them to contact me - jayne@amyandfriends.org

November 2012 - Our hearts are broken again....our beautiful Keny became a butterfly.

November 2012 - Handsome Hassan spread his beautiful wings and left for Heaven.

November 2012 - Little Grace has lost her battle with this terrible illness - fly free sweetheart.

November 2012 - Luke has gone to join his sister in Heaven. Our thoughts are with their many loved ones.
  November 2012 - We are very proud to announce that Amy has won the Morgan foundation award in the Against All Odds category! We happy you received the recognition for all you hard work sweet angel and as always you carry on supporting all the other families by receiving £10,000 for Amy and Friends!!!!
October 2012 - Our very own Scarlett was in the Sun newspaper -

October 2012 - Please have a read of the article in the Chicago Sun Times all about this brave girl Shelby!!!

October 2012 - A light has gone out on earth but all the stars are coming out for you tonight Hassan, Rest In Peace.


October 2012 - We have just heard the news that sweet Brittany has joined her butterfly friends in Heaven.
September 2012 - Thank you to Ben Rioch who did a 500m scootathon, followed by a 500m bike ride (he learnt to ride without stablisers in Auguest) and a 250m run and his Dad Bruce Riochwho has also run the Great North Run for us - A huge thank you to these SUPERSTARS who raised over £700!!!  

September 2012
- We have some exciting news.....a great friend of ours helped make this single after meeting some of our wonderful kiddos! Please spend 79p and download There is a Child on itunes. All proceeds go directly
to Amy and Friends to help with next year's family/medical conference. Many many thanks!!

September 2012 - After 27years of fighting Sara May flew free from her tired body - You will never be forgotten angel!
  September 2012 - Our CS family gathered from all corners of the world for the Amy and Friends retreat/medical conference - The conference gave families a weekend together to share, learn and support each other. Medical specialists did talks on developments of their research into CS and families were able to get answers to many of their questions - Every one who attended had an incredible time, and the weekend was the best yet!!!

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