The story of Annie
Hello! Meet Hannah, my daughter. She is, and will always be, my inspiration.
Hannah is 9 years old. She loves to eat Broccoli (hence the title for our blog). She’s FULL of fun and mischief and can light up a room with her smile. She’s a very active little girl (understatement!) and my goodness, she may be tiny, but she’s STRONG!
But Hannah’s life seemingly wasn’t destined to be an easy one. Immediately after she was born, it was noted that she had a cleft palate…then her heart was found to have 2 holes (which, thankfully, spontaneously closed) and she also has a heart defect which can’t be ‘fixed’. There were lots of other things identified over time (and not the stuff you want to hear as a new mum) which suggested Hannah may be affected by a syndrome and, sure enough, after seeing a wonderful Professor of Genetics, Hannah was diagnosed with Cornelia de Lange Syndrome which pretty much affects most aspects of her life.
Cornelia de Lange Syndrome (or CdLS) is a very rare genetic condition and statistics of people affected range from around 1 in 10,000 to 1 in 40,000 live births (dependent on what you read on the internet). Around 85% of the people affected by CdLS have a change on their NiPBL gene, but Hannah is affected by a change on the SMC1A gene which lies on her X Chromosome…only 5% of people affected by CdLS have this gene change…so she’s rarer than rare. Hannah is also formally diagnosed with Autism.
Hannah is currently non-verbal (although she has said Hello once and her name) she also experiences a range of other difficulties like self-harm and sensory processing stuff and the way she sees the world…but don’t be fooled by this little pocket rocket…she can often make her needs known (not always though, unfortunately)…she can also get into scrapes, can be lazy and stubborn and cheeky and can sometimes be naughty too – JUST like any other kid (and grown up) you know. Despite her mobility being affected, Hannah doesn’t know her own limitations and has no concept of hers and others’ safety…so we have to be on our toes and be vigilant…constantly!
But regardless of all the challenges she faces, she embraces life like no-one I’ve ever, EVER known.
Since her birth, she’s unwittingly taught me so much. She’s my hero! She helps me see life through a different lens…and she inspires me every single day.
We’d love you to join us on our journey. You can find us on Facebook or Instagram (just search for My Kid Loves Broccoli) or our blog www.mykidlovesbroccoli.wordpress.com
#awarenessmatters #neversaynever #corneliadelangesyndrome #CdLS #smallbutmighty #cdlswarrior