When I decided to start my career as an author, I wanted to use the wisdom and hard lessons of my life experience to write “books that matter”. Humanity and society in general can only grow, improve and be a kinder, gentler world, if we share our experiences, both good and bad with each other. There are lessons in every experience and it is our lifelong mission to find the lesson and learn from it. So by writing, I share my knowledge, and my life experiences to find meaning for myself and for my readers. We can all learn something from each other and this page is to teach you something you may not have known or be aware of.
My dearest friend and partner at work both became grandmothers within a couple of months of each other. Both of our experiences were not what we expected, and after years of us both helping thousands of new moms with breastfeeding and other issues, we found ourselves facing unique challenges. Her grandson seemed to be struggling to eat, and as this went on and on, warranted further investigation. He was diagnosed with Angelman Syndrome and neither of us, both lifelong nurses in the paediatric field, had never heard of this. Because of early diagnosis, and determined parents that implement every possible therapy, her grandson is doing well. In honour of her, and to raise awareness I am including this information here.
Angelman syndrome affects 1 in 15000 individuals, approximately 500,000 individuals worldwide. Angelman syndrome is caused by a deletion or mutation of the maternal gene on the 15th chromosome. AS is typically not inherited, rather it is a random event that occurs in cell development prior to reproduction. Individuals with AS typically have developmental delays, motor and balance impairments, debilitating seizures, and severely disrupted sleep cycles. Individuals are typically non-verbal or have a very limited verbal vocabulary. Individuals with Angelman Syndrome typically have an overall happy demeanor, their smiles light up any room they walk into. There is currently no cure for Angelman Syndrome, but researchers and scientists are working hard to find a treatment with multiple gene altering therapies currently being looked at, with two in human trials currently.
For further information please contact: httpss://www.angelman.org or httpss://cureangelman.org