Sarah
What follows is an extract of the life of Sarah Ryan as at July 2020.
Sarah was born in 1959.
Sarah didn't have many friends growing up. As a child she had many illnesses. She struggled both socially and with school work in primary and secondary school. However, she thoroughly enjoyed learning about home economics, and found her niche in cooking for herself and her father who she lived with.
Sarah chose not to go straight to college after secondary school, but instead opted to get a job working at a kennels and riding stables. After a year Sarah then found a job at a veterinary practice as an assistant. Two years later Sarah decided to go to college and refresh her shorthand and typing skills which she had done at secondary school. College work provided her with some qualifications which enabled her to have several office jobs over the years, the longest being 5 years.
Sarah met Chris and they were married in 1988. Their son Luke was born in 1992, and their daughter Leah in 1997. When life had got less turbulent, Sarah opted to be a dinner lady - because the hours fitted in with looking after her children. Leah was often sick and off school for long periods, especially during the winter months.
Sarah was diagnosed with 22q11.2 Deletion Syndrome (aka Di George Syndrome) in 2009, as a result of family testing following her daughter Leah's diagnosis with the syndrome. Sarah was just shy of her 50th birthday when she found out – the diagnosis began a process of piecing together lots of missing puzzle pieces for her throughout her life.
Exploring the web, Sarah and Chris found the UK Max Appeal charity which supports families and those who have either of the 22q11 deletion or duplication syndromes
In 2013 both Sarah and Chris were very fortunate to be invited (with other families and experts) by Max Appeal to make a speech at the House of Commons to help launch the Max Appeal Consensus Document for the 22q11.2 Deletion Syndrome. As well as providing treatment recommendations, this document and the charity aims to help raise awareness of this little known, hidden and massively undiagnosed syndrome that can have a huge impact on individuals and their families in many different ways.
Sarah and her family have attended many events for Max Appeal over the years and have even hosted some too especially the annual “22q at the Zoo” events in May each year.
Leah and Sarah both sincerely hope that their stories inspire and give hope that others with 22q11.2 Deletion Syndrome can meet the challenges and yet achieve long and happy lives in their own unique way.