Recipient’s story:
On 21st January, 2018 our beautiful little boy was brought into this world. A non-complicated natural labour bringing into the world a healthy 8 pound 2 baby. He was just perfect and such a beautiful completion to our family of 4.
After a couple of honeymoon weeks, Mason started to develop fussy feeding and wheezy breathing. We quickly learnt our son had GORD and mild laryngomalacia (an immature larynx). As the months went on, we started to notice his delay in development and lack of visual attention. This is what landed us in the Brisbane’s children’s hospital for a week. Test after test, in search of answers. After brain MRI’s, lumbar punctures, simple genetic testing, metabolic testing, blood testing plus many more, the answer was still unclear. Every test they did came back normal. We were told he had a condition called ‘delayed visual maturation’ and should have full vision by 12 months. They also told us that he should just ‘catch up’.
As the months passed, the gap became wider and wider. He wasn’t meeting any of his milestones. By 1 year of age we knew we had to do something. We started intensive therapy, along with weekly therapy in the attempt to give our son the best fighting chance. Hours upon hours of therapy he was making gains, but for the amount of time and effort he put in the gains were small.
Just after his 2nd birthday they decided to do further genetic testing – sending both mine, my husband’s and Mason’s bloods off to America. It was there our world came crashing down. We discovered out son had an extremely rare, non-inherited, genetic disorder called STXBP1. Never heard of it? Neither had we. Mason became one of only 400 in the world to have this very rare genetic disorder. It is a condition characterized by abnormal brain function and intellectual disability. We quickly learnt our son would never just ‘catch up’, in actual fact his life was going to be extremely challenging in so many ways, forever.
This disorder brings with it 95% having severe epilepsy, intellectual disability, movement disorders, ataxia (difficulty co-ordinating movements) , hypotonia (weak muscle tone), autistic traits, behavioural issues, most non-verbal.
As parents we were completely heartbroken, however we were never going to let this diagnosis define him. He attends up to 5-6 therapy sessions a week consisting of Occupational Therapy, Physio Therapy, Speech Therapy, Hippotherapy, Cuevas Medek Exercise (CME) therapy. He also attends intensive therapies each year at a Paediatric Therapy Centre in Sydney called the NAPA centre, where he participated in up to 60 hours of therapy in just 3 weeks, 2-3 times a year.
Mason unfortunately started having seizures just after his 3rd birthday. We were hoping he stayed in the 5% that never have epilepsy. At this stage they are controlled under Keppra. The scariest part of this disorder is the unknown. Because it is relatively new and rare, there is so much to still learn about the disorder. The spectrum varies from child to child. There is no cure. The only thing they can do is treat the symptoms as they arise.
Although he faces huge challenges on a daily basis, Mason is our warrior. He is such a happy, determined little boy that has taught us so much about life. He has taught us to stop and appreciate the simple things in life. The things we all take so much for granted.
With all of this therapy we see great gains, although the gains may be small to a ‘typically developing child’ to us they are HUGE. At 2 he started to crawl. At 3 he took his first steps. We have learnt to always celebrate the ‘inch stones’ along the way, because he has to work so damn hard to achieve them. He is working so hard to learn how to navigate uneven ground and steps. Motor planning is a real challenge for him. He remains non-verbal and his understanding is limited. However, he loves people especially his big sister, animals, mirrors, bubbles, balloons and water, water, water!
Although his progress is slow, progress is progress – we never give up hope. Hope there may one day be a cure to help our little warrior!
We can’t thank Dunga Derby enough.
We also want to thank the Rally for a Cause Board for granting the support and funds to help our little boy. Every day is a tough slog for not only him but the whole family. I have not been able to go back to work since he was born (as a teacher), the pressure is then placed onto my husband to be the sole breadwinner. The thousands it costs for therapy. (Thank goodness some gets supplemented by NDIS) The extra costs for special beds, special equipment, nappies, fuel to get to therapies daily, the constant medical appointments, accommodation for the intensives in Sydney, the list could go on.
This money helps ease some pressure within the family. We not only decided to use the money to help ease the immediate financial burden, but we are hoping to also use the money towards helping make a therapy room in our house for Mason. Including soft fall, swings, ramps, steps, outdoor play therapy equipment etc. It allows us to create a space where Mason can continue to learn and grow within our own home. It gives him a safe space and a place he can love to learn and continue to grow for many years to come.
Although it can feel alone having a special needs child at times, when charities like this offer such amazing support, it reminds us that we are never alone in this journey and that not only our closest family and friends are cheering our Warrior Mason on, but also the grater community. So THANK YOU, we honestly can’t thank you enough!!