2024 WORLDWIDE ANNUAL MEETING OF FAMILIES AND SPECIALISTS REGISTRATION FORM

Welcome to Amy and Friends, supporting children/young people/families/carers suffering from DNA repair disorders in childhood, including Cockayne Syndrome (CS), Trichothiodystrophy (TTD),  Bloom Syndrome, MORC2.

Our Amy and Friends Values 

Supporting one another

Love and respect

Share and gain knowledge

Inclusive

Our Mission Statement 

We are committed to improving the lives of individuals affected by DNA repair disorders in childhood, with compassion and through a family centred approach. With our network of dedicated staff, volunteers and expert medical professionals, we provide practical and emotional support, information, and education whilst promoting and engaging with groundbreaking research in the UK and internationally.

Who are Amy and Friends?

Amy and Friends was formed to support children/young adults and families suffering from Cockayne Syndrome and linked DNA repair disorders. We meet with families and specialists to share experiences, knowledge and to gain support from each other. We organise and accompany families when attending Rare Disease Clinic at Guy’s and St. Thomas’ NHS Foundation Trust and we actively take part in research programmes, working closely with a team of worldwide medical team.

Families are able to meet others in similar situations to themselves, often for the first/last time. This helps lessen isolation and gain knowledge. Those who have lost a loved one can meet with others who have shared their experiences, in the knowledge that they will never be forgotten.

What We Do

Amy and Friends host an annual family/medical conference. This is attended by specialists from across the globe. The conference is an experience like no other, with tears, laughter, hugs and support shared by all.

We were very fortunate to have this footage captured at our annual conference this year, the poem was written by Gareth Williams The Rhymeologist – please click on this link – https://youtu.be/Yw9Srm521l4

REFLECTING ON AN INCREDIBLE FEW DAYS. What I witnessed these last few days at the Amy and Friends Cockayne Syndrome and Trichothiodystrophy Support Conference, will live with me for the rest of my life. When you think you’ve seen it all, trust me you certainly have not. Being in the company of all these legends and to have witnessed how families and friends come together to celebrate life in all its splendour, despite horrendous adversity, is for me so humbling. Jayne Hughes and your amazing team, I applaud each and every one of you, and I am beyond proud to call you my friends forever. Thank you so much.

As a bereaved family, we had decided to do the virtual conference this year. However, our daughter persuaded us to come along in person. Seeing the bond and love she has with the other siblings is indescribable, it is the only place she can express her emotions freely and without fear of judgement. On a personal level, I loved spending time with families who knew and loved my son and meeting new CS children.

Every cloud has a silver lining. The silver lining to Dotty’s CS diagnosis is definitely Amy and Friends. A full day of hospital appointments in London and they were on hand with entertainment, food, delicious coffee and support. After visiting the Queen and Hamley’s, what was their favourite bit? Wheelchair races and painting in the hospital. Because of Amy and Friends we got to meet other children with CS and TTD. No words needed, just holding hands and sharing smiles.

To the families from France, Poland, Italy, Spain, South Afrika, Belgium, Germany, USA, Canada, Kosovo, England, Ireland, Australia, New Zealand and all the other families that I saw from other countries worldwide, it was absolutely fabulous seeing you all last weekend. A massive compliment and a big THANK YOU to the amazing team of Amy and Friends for organizing this online meeting. You all did such an amazing job. Loved seeing all the happy faces. Hopefully we can all meet in person some day soon. Much love and big hugs to you all. Also to all the people who could not attend…much love

Amy and Friends organise and pay for transport and an overnight stay for families attending the Rare Disease Clinic in London. 10 patients and their families are seen each month. Please click on this link for further information.

We provide home visits to families. This gives parent/carers/siblings some vital time out from their 24/7 dedication to their child/young person. This enables parents to have a ‘cuppa’ together, go for a walk, have a sleep – simple things that most of us take for granted. Siblings have a chance to play board games, have an outing, have time just to be them, and speak with someone who understands. Our team are fully trained and DBS checked.

Zoom sessions are organised weekly. We plan many different projects, listening to each family member and responding to their needs. These sessions include arts and craft time for young people and well-being for parent/carers.

Amy and Friends take part in research programmes across the world. We have made instrumental information contributions towards medical papers and helped to develop care plans, specific growth charts.

Amy and Friends provides equipment where possible to children and young adults, working with outside organisations. We have been able to distribute sensory equipment and iPads to enable communication and independence, as well as walking aids, and assisting with having Wishes granted.

Amy and Friends provide information, advice, support, advocacy and much more.

If you would like to make a donation you can do so by clicking this link.

Amy and Friends, OCC, THE BOWLING GREEN, VILLAGE ROAD, OXTON, WIRRAL CH43 5SR, UK.