Ari
When Ari was 10 weeks old, his parent’s Amie and Brett knew something wasn’t right when their baby boy was unsettled all day and night, wouldn’t feed, was constantly projectile vomiting and seemed to be deteriorating by the second.
They were asking themselves, “What is going on with our baby,” as they took him to the hospital. They didn’t leave the hospital for the next 4 months.
“This experience was very traumatic. We honestly thought we were losing our little boy and were begging for help left, right and centre.”
“The day we were admitted into the hospital, a huge weight was lifted from our shoulders. While we were faced with the fear of unknowns, we were at least heading in the right direction in helping our little boy!”
Once admitted, they had some genetic testing done to confirm the clinical diagnosis and on Saturday 17 November 2018, at just 7 months old, the results came back to confirmed that Ari has Noonan Syndrome with a KRAS mutation.
Noonan Syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage.
"Healthwise we’d change things to make sure Ari was well and didn’t have any challenges, otherwise we wouldn’t change him for the world, he is perfect just the way his is! There is no better feeling than being his parents.”
This diagnosis gave them the opportunity to build a plan with their medical team. Ari was checked from head to toe, inside and out. And it was due to all the testing they were able to also discover that Ari had a congenital heart disease, internal bleeding in his oesophagus from all the vomiting and that he had hearing loss, visual impairment… the list goes on.
“We often worry about what his future will be like, will he make friends, will he have any bullying issues!!! We worry about his health and of course we shed many tears behind closed does about our worries and concerns.”
But they also discovered a whole new meaning to life, who their true family and friends were, what their strengths really are and a whole new world of knowledge and language, that of the medical world!
Ari is the life of a party type of boy, he is funny, very cheeky, daring and very loving. He is a strong and independent little boy. He just loves life!
“For the present moment we are lapping up every moment with Ari, helping him to grow into a confident and strong little boy who has thick skin, giving him his best life and encouraging him to thrive, grow and succeed like any other child.
We made a promise to him the day he was born and each day that we received a new diagnosis, we were going to give him his best life, with every opportunity to grow, live, be loved.