This is about the plight of our Anabella who has 22q11 deletion Syndrome. Diagnosis took 16 months. I knew from birth something just wasn’t right with our quiet baby. The first sign was her nasal regurgitation and milk leaking from her nose during breastfeeding, doctors constantly told me it was normal and would resolve itself eventually. Even after being hospitalized due to chocking on her own spit-up, which blocked her airways with nasal regurgitation, doctors still told me it was normal. She also had a heart murmur that was detected the day after she was born. The next indicator was her slow to no-weight gain and failure to reach basic milestones, but still doctors told me everything was ok and Anabella would get there in her own time.
It was due to Anabella’s facial features resembling that of a normal child, that she was being monitored. Specific facial features on 22q patients develop over time, and Anabella is now starting to display them. The next hurdle was the chronic constipation and food allergies that had her again dropping off the growth chart. She was always a quiet baby rarely laughing, but always smiling. People commented upon how much of a quiet baby she was, which we now know was more than just good temperament.
When Anabella was referred to a speech therapist they finally listened to me and agreed things weren’t normal. After a swallow study showed she had velopharyngal dysfunction and under-developed motor skills in her mouth, more assessments followed and showed she had global developmental delay in all areas. Following genetic testing there was finally a diagnosis! It took a while to sink in, but honestly we already knew.
Currently there is no cure for 22q11 deletion Syndrome, there is only treatment for the different challenges it gives Anabella. We are currently waiting for ENT surgery and a review of her heart as well as access to much needed physio, speech therapy and occupational therapy. Every day is special with Anabella and we just want her to have the best possible future.