At one point he was considered the 1st person to be reported with his particular genetic mutation within North America, with around 30 other cases known in the world (more cases are being found). The small bit of research that we have been provided shows us just how lucky we are and just how much of a hero he is to so many. His attitude and determination is the reason he has the intellectual abilities he's acquired. He has defied all odds and he is our superhero.
From the time Austin was born, as his parents, we looked at him as a superhero. He was born with 2 dislocated hips and was in a body cast for 3 months when he was still a newborn. He has gone through countless hours of physical, occupational, speech and feeding therapy. He has endured hours of car rides to Birmingham to visit specialists, routine procedures, and hospital stays.
In August of 2017 he had to be rushed to the hospital for a respiratory collapse, this was the second one he had been admitted for in about a month. He stayed at Children's of Alabama for close to 6 weeks. During this stay he was on a ventilator for 4 weeks, his doctors decided that a tracheotomy would be a necessary procedure for him to move forward in being released. His trach was placed and within a week he had gotten off of the ventilator. The most uplifting part of going through this entire scenario was watching Austin continue to smile through all the wires and tubes in his mouth and down this throat. We had been informed that if he couldn't make it off of the ventilator we would have very difficult decisions to make moving forward in his care. In the final genetic report it revealed he has a mutation in the UBA5 gene which causes severe physical and cognitive disabilities.
WHAT DOES AUSTIN'S WAY MEAN?
We were told many times that Austin would chart his own path. At the time, we had no idea how true that would be.
An easy way to think about the UBA5 gene mutation is it functions as a spectrum. Some children can sit, walk with assistance, write, and feed themselves; while others have never been able to walk, sit, feed themselves, and possibly restricted by several medical devices.
In six years we have seen Austin move across a spectrum in a physical aspect.
Although be progressed slowly he was able to prop sit, walk in a gait trainer, stand in a supine stander, attend school and therapy sessions, feed orally, and make the world's cutest noises. He can no longer sit up or support any of his weight or head, he is also bed-bound, utilizes a feeding pump, and requires humidified air due to his tracheostomy.
TOUCHING LIVES AUSTIN'S WAY