Rare Disease Clinic been up and running for a year.
The multidisciplinary clinic has been up and running for 1 year. Clinic has allowed our families and CS - TTD patients to be seen by a wonderful team who specialise in CS and TTD, Dermatology, Neurology, Ophthalmology, Dentistry, Dietary and Genetics.
Amy and Friends is an integral part of the service giving feedback on the patient experience and also by providing financial assistance for patients to attend clinic. We accompany families and provide volunteers to help keep children fully entertained and supported.
NHS England funded the Cockayne Syndrome -Trichothiodystrophy (CS-TTD) multidisciplinary clinic in February 2019 to assist consultants in caring for their CS-TTD patients. It provides services including Dermatology, Neurology, Ophthalmology, Dentistry, Dietitiary and Genetics. It is based at St Thomas’ Hospital in London and diagnostic tests are led by Professor Alan Lehmann from the University of Sussex and the clinical lead for the service is Dr Shehla Mohammed . Amy and Friends is an integral part of the service giving feedback on the patient experience of the service and also by providing financial assistance for patients to attend the clinic.
February 2019 - St Thomas’ Hospital London working in conjunction with Amy and Friends and NHS England opens the first multidisciplinary clinic for Cockayne Syndrome/TTD in the world! Our biggest achievement to date!
Amy and Friends - in conjunction with Guy’s and St Thomas’ Hospital and NHS England are beginning work in establishing a multidisciplinary clinic for children and young people who suffer from Cockayne Syndrome/TTD. We have worked so hard over the last 7 years and are delighted with this outcome!
The People's Projects gives you the chance to decide how National Lottery funding can make a difference in your local community.
The projects are revealed! Voting opens at 9am on Monday 16th April 2018.
A share of up to £3 million of National Lottery funding is up for grabs. With 95 organisations shortlisted across the UK, we want you to vote for the projects you would like to receive funding.
Groups are competing for up to £50,000 of funding to improve the lives of people in their communities.
Please Vote for Amy and Friends by clicking the image below remember voting doesn't open until 9am Monday 16th April 2018, Thankyou!
PLEASE SHARE.....Can you believe it’s nearly March! Just a reminder that our worldwide afternoon tea takes place on 2nd June 2018. We are extremely happy that so many of you are taking part!
If you are also interested - all you have to do is hold an afternoon tea party/we will send you some of our leaflets and you can help raise awareness and money to help our children and families ❤️
Thank you for helping us to ‘make a BIG difference to little lives’ ❤️
GenIDA, an online study for CS patient and familiesThe 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 extremely useful in Cockayne syndrome research 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 is 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 favour international clinical studies the more regular participants, the more informative will be the results. https://genida.unistra.fr/
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.