CAN Campaign

Cure Angelman Now

Our daughter Lucy was born 7 weeks premature, happy and healthy in 1995. For the first six months of her life, she developed well and was on track for an amazing future full of possibilities.  

We soon realised she wasn’t hitting milestones, she wasn’t talking and her development was severely delayed. She had various blood tests and scans and no-one knew what was wrong, they couldn't tell us what her future held.  They repeatedly said she looked like she had a rare chromosome disorder called Angelman Syndrome also known as Happy Puppet Syndrome. The children were known to be very smiley and would flap their hands. Angelman Syndrome is a severe non-verbal learning disability and was only discovered in 1965.

Angelman Syndrome is typically caused by a deletion of the UBE3A protein on chromosome 15. Tests were carried out for this deletion and came back negative. Drs continued to tell us that Lucy looked like a child living with Angelman Syndrome and more tests were carried out.

Meanwhile unbeknown to us on 5/2/1997

Dr. Arthur Beaudet discovered mutations in the UBE3A gene as the cause of AS.

This discovery quickly led to the development of animal models and active neuroscience research aimed at discovering how abnormalities of UBE3A cause impairment in neural development. 

Eventually in 2001, Lucy was in the first 100 children in UK to be tested for the newly discovered mutation of the chromosome rather than the deletion. Her results came back positive! She was 1 of the first 25 in the UK to be diagnosed with the UBE3A mutation! Lucy was now 6 years old, I had just found out I was pregnant with my other daughter Becky and I was told I was a carrier with a 50/50 chance of another child with AS.

The statistics were that our little 6 year old daughter Lucy had a 1 in 20000 chance of this chromosome disorder Angelman Syndrome (AS). She had an even rarer form that effects around 10% of these children.

The symptoms for AS are permanent and severe intellectual disability, life threatening seizures and a complete lack of speech as well as hypotonia, ataxia, frustration and difficulties.  We were devastated and grief stricken that the life we had imagined for our beautiful daughter had been changed so dramatically and there didn't seem to be any glimmer of hope on the horizon.

Lucy is soon to be 30 years old and genetic testing has increased tenfold and much improved from when we were handed a piece of paper with a few details back in 2001!

International Angelman Syndrome Day was formed across the world. The day was to be 15th February. This date was chosen by a collective of global Angelman Organisations to coincide with International Rare Disease Month which is recognised throughout the world annually in February, with the specific date chosen as the 15th to tie in with Chromosome 15.

In February 2013 we met up with 11 other UK AS families and we soon became friends for life. I continued to arrange these weekends annually and each year is a vast improvement on the past year. We now have around 80 - 100 families attending. 3 years ago FAST UK approached me wanting to support some of our families. 2 years ago Spread Your Wings UK came on board and both charities are now heavily involved with the organising of this forever popular event.

It is because of my involvement with the iAd weekend that I had the chance to go to the USA. I won a community award for The FAST Gala and Science Summit in 2023 and I was so impressed I returned in 2024! Little did I know I would find myself sat at a dining table talking to Dr Arthur Beaudet! (The Dr that had discovered the mutation in 1997!) He asked me if there was anything he could do to help to improve Lucy what would I like it to be? I replied saying it would be a great help if she was calmer and/or be able to speak. He said he recommended I watch out for the upcoming trials and he thought there is a good possibility for improvement in Lucy. This is MY reason for raising funds for the CAN Campaign - CURE ANGELMAN NOW. Please help to raise funds for our community, the more research that happens the quicker we get results and most of us will be satisfied with improvements if not a cure!

The Foundation for Angelman Syndrome Therapeutics (FAST) charity was founded in USA in 2008 snd then in UK in 2016. There are FAST charities now all over the globe.  

The Foundation for Angelman Syndrome Therapeutics UK (FAST UK) is an organisation of families and professionals dedicated to finding a cure for Angelman Syndrome and related disorders through the funding of an aggressive research agenda, education and advocacy. The Foundation is committed to raising awareness as well as assisting individuals to realise their full potential and quality of life. We are confident that our goals are within reach and together, with your help, we will change lives.

Join us today to be part of history by fundraising for the Cure Angelman Now (CAN) campaign. If anyone can, FAST UK CAN.