I remember clearly when Molly was around six months old pushing her in a trolley in the supermarket, she was lying in the baby capsule. I saw a mum with a little boy I guessed was Mollys age - he was sitting in the trolley and feeding himself a rusk. The next week we went for six month immunisations and it was clear to me then, Molly was behind her motor milestones. A knot developed in the pit of my stomach, a knot that would take a long time to go away.
We started investigating for a cause and commenced Physio therapy at the Child Development Unit (just in case). We had metabolic testing, basic genetic testing, ultrasounds, MRI, spinal taps..... It was a truly terrifying time.
I read about Angelman Syndrome (AS) in my search for answers - I stopped there. AS didnt describe everything about Molly, but enough that I knew it was what she had. She was professionally diagnosed four months later at twelve months of age. The rarity and lack of clarification about what a child with AS should "look" like, hindered an earlier diagnosis.
The next step of the journey is talking about it with other people, its a huge step. Most people - even close friends and family - didnt know what to say. Without adequate networks for support the world became a very dark place for me. We had the diagnosis but we had no clue for our future.... what would Mollys future hold? Where do we go now? How will we cope?? Speech Therapy, Physio, Occupational Therapy, equipment, early intervention, respite.... Most doctors & therapists we met had either only read about AS in text books or have never heard of it at all!
Google & I became best mates! We registered with an online email group that has been my saviour!
We were also lucky as our diagnosis coincided with the formation of a great foundation in the States that provides real answers, up to date research findings and therapy solutions - http://www.cureangelman.org/
Although these are both fantastic resources we've only just connected with another Aussie mum of newly diagnosed girl close to Mollys age. The support we have been able to provide each other has been immeasurable. We are faced with the same questions about types of therapy, support, advocacy... we are learning to fly together!
I am incredibly lucky to be blessed with an amazing husband, two gorgeous daughters (Eva is amazing with Molly and shows maturity way beyond her age) supportive family, friends and the best neighbours you could hope for - who are also god parents of our girls. Mollys pediatrican is a wonderful proactive doctor who I would also now call my friend. I have also met some amazing parents of other children with AS, doctors and researchers who inspire me daily.
Mollys diagnosis, although heartbreaking initially, has changed me immeasurably and altered the way I look at myself and the world in such a positive way.
"One who walks the road with love will never walk the road alone"- C. T. Davis
