Charlotte was the 3rd born child, 1st girl and was the last piece of our family puzzle. She was born at 40 weeks no complications. Initially as a newborn i noticed facially she was very different to her brothers and her nose and ears seemed very different, as the early weeks went by her feeding was horrific, she couldn't feed much and what she did consume she brought back down through her nose within minutes. She never thrived and struggled to gain weight..
I felt like nobody listened and nobody took serious my concerns. She was treated for reflux etc but nothing helped and we just battled on. As the months passed i noticed she was developmentally delayed and didn't roll, sit, crawl or walk anywhere near when she did. She never took her first steps until she was 17ish months and never properly walked until maybe 19month. At the age of 9months we noticed she was having a head tilt that she was unable to come out of (weeks at a time) and after no answers we went private to a pediatric neurologist and discovered she had Benign Paroxysmal Torticollis. She would have weeks of head tilts and vomiting. Until this stopped age 2! I still was not convinced all was ok with Charlotte. She had feeding issues, pains in legs, always unwell, delayed development. I just knew as a mum that she was different. After a long fight and persistence we finally got referred to Clinical Genetics and in the first Lockdown i had a telephone appointment with a lovely Genetics Doctor who agreed things needed investigating. Soon after we received the news that my beautiful baby girl had 22q.. I can't express how relieved but at the same time completely devastated i felt all rolled into one.. I was relieved that someone had finally listened and i now had an answer for all my doubts over the years but at the same time i was absolutely gutted that my daughter would face a life of uncertainty. Upon then more medical investigations we found out that she has Bicuspid Aortic Valve and a small hole in her heart. Mild scoliosis and a few other less major complications. She suffers terribly with Anxiety and has unusual behavioral traits but she is the light of our lives.. I have spent my time from August 2020 trying to come to terms with her diagnosis and some days i still sit and cry and wish it was all a dream. Nobody knows what the future holds but with the support of her family we hope that she will thrive and succeed in every way possible! She is so special to us and makes everyone constantly laugh with her funny personality her best friend is her Granda and they have the most special relationship and the cutest bond.
We honestly wouldn't change her for the world and she will always be our baby girl.. 22q needs to heard and understood and more awareness needs to be spread . I dread to think if i hadn't of fought and never knew what would have happened. A parents instinct is always right!!
She was just 3 when she was diagnosed last August. She will be 4 in June
Charlotte’s mum ❤️