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Fair For Rare: ARIANNA's Story

Arianna was born and we knew pretty soon after she was going to be complex. She had low blood sugars, had trouble feeding and low tone, which didn't improve quickly. Arianna had what genetics terms ‘dysmorphic features’ and she slept a lot. We were in the neonatal intensive care unit (NICU) for seven weeks where a number of tests were run, including micro array and Prader-Willi syndrome (PWS) was ruled out.

 

They eventually discharged us with a diagnosis of septo-optic displasia and we were told our child will likely go blind, which turned out to be totally wrong. Arianna was very long and had long fingers and toes. Her first year was a whirlwind of nasogastric tubes, continuous pump feeds when she started vomiting during every feed and physical therapy, occupational therapy and feeding therapy. Arianna also had sleep apnea and was hospitalised many times with respiratory illnesses. She got fluid on the heart as a side effect from medications and had to have emergency heart surgery. Arianna was a sick, complex bub that the hospital could not understand.

 

Eventually, genetics figured out it was Sotos Syndrome but by that time, I had worked it out myself and the diagnosis was just a confirmation. Thankfully developmentally, though delayed, she sat at eight months, crawled by 14 months and has just started walking at 23 months.

 

Medically, she has a long road ahead with multiple surgeries possible with infantile scoliosis and in the best case, has to wear a brace for her whole childhood. But Arianna is no longer hospitalised for viruses and colds and while she is tube fed, her feeding is progressing and she passed her swallow test.

 

She is non-verbal but uses signs like ‘more’ and ‘finished’ - she shakes her head for no and points. She has an uncertain future and given the overgrowth, she is the size of a four or five-year old at two, but she's amazing. We don't really know developmentally how she will be impacted as the range varies a lot but it could be better and we are aware, it could have been a lot worse. 

 

Arianna has come a long way and is a different child in many ways. I am proud of her and as a mum, though I haven't fully come to terms with her challenges, I love her unconditionally and have had amazing people come into my life because of her. She's rare and she's awesome!