By Andrea Viney
Born with rare congenital condition, Goldenhar syndrome, Jacob can count as many surgeries as he can birthday candles. But Jacob’s family just count themselves lucky.
Sixteen surgeries in 16 years – it’s difficult for any parent to imagine. And it never gets any easier. That’s why this family choose to count the moments instead – and make the moments count.
Much like the condition that changed their lives, the journey of parenting two special needs children, has been uncharted for Kylie and Aaron.
Their firstborn, Jacob, now 16, was born with Goldenhar, a rare craniofacial syndrome, while their daughter Jasmine, 15, is autistic and has ADHD.
Goldenhar syndrome causes the incomplete development of bones in the face, mainly affecting the ear, eye, nose, lips, and jaw on one side. The condition can also cause abnormalities in the spine and ribcage, and problems with the heart, kidneys, lungs, and nervous system.
While most people with Goldenhar are affected by just a few, often mild symptoms, Jacob ticks almost every box – a uniqueness which gives him celebrity status among the medical fraternity. Apart from normal functioning kidneys, every part of his body is impacted.
Relatively new research has uncovered the hereditary nature of Goldenhar syndrome, with each child having a 50-50 chance of inheriting it. Genetic doctors have told Kylie they suspect the gene may have come from her. With a drop lip on the left side and skin-tags on her left ear, Kylie’s symptoms are mildly similar to Jacob’s, enough to map the gene back one generation, but beyond that, they have no idea where Goldenhar has come from. However, they do know that if Jacob or Jasmine have children, they could be affected.
A BEAUTIFUL BABY
In 2006, Kylie gave birth to Jacob, four weeks early. A scan in utero had shown a curve in Jacob’s spine, and Kylie and Aaron had been prepared to expect mild scoliosis. But nothing could have prepared them for the severity of abnormalities, and the life-altering diagnosis.
Soon after birth, Jacob was whisked off to the neonatal unit for tests, but Kylie remembers the joy and elation that came before all that – the beginning of true, unconditional love.
“He was our first baby,” Kylie says tenderly, “he was beautiful.”
She laughs as she recalls the moment when they realised Jacob had no left ear.
“It looked like a little cauliflower, and Aaron said maybe it was stuck and would unfold after a while.” Kylie knew otherwise, and that their baby boy came exactly as he was. “I just giggled and kept saying, ‘baby is so cute’,” she says.
The next day when doctors told Kylie and Aaron that they suspected Goldenhar, and the severity of Jacob’s condition began to unfold, a missing left ear became the least of their worries. Jacob also had no left side jawbone, multiple hemi vertebrae in his spine, neck fusion, submucous cleft palate, tongue ties, 11 ribs on one side and 14 on the other, an extra collarbone, anal stenosis, deafness, low vision, and four holes in his heart.
A CHANCE TO EDUCATE
It’s no wonder that Jacob has been a case study to help doctors learn about this rare and complex condition, something Kylie and Aaron positively encourage.
“We’ve always gone into it with an educating mindset. So many doctors have never heard of it (Goldenhar), and the more they learn, the better the future will look for Jacob and other kids,” Kylie says.
Some of the doctors who treat Jacob, might have seen a handful of kids with Goldenhar in a 20-year career, others, have never even heard of it. This can be terrifying when Jacob comes up for complex surgery, like the procedure in 2021 to give him a new left ear. But, Kylie and Aaron approach each and every surgery the same way – hoping, trusting and reminding themselves to “just breathe”.
Jacob’s first surgery was at just seven-months of age, where he had a gastrostomy feeding button put into his stomach (so he could be tube fed without a nasal gastric tube) and anoplasty to fix his stenosis. Despite knowing Jacob needed these surgeries and they would reduce his pain, Kylie and Aaron were told there was a high chance their baby would not survive his first surgery. But that was an outcome neither parent could begin to imagine, let alone prepare for. Kylie remembers repeating the words, “he’ll be fine”, over and over in her mind (something she still does through every surgery).
“You can’t ever prepare yourself,” Kylie says. “While they’re in surgery is the worst time for the parent. You just have to hope with every ounce of your body that they’re fine”.
More than a decade on, and many more surgeries behind them, Kylie still feels like that young mum trying to remember to breathe. The anxiety mounts up and every minute waiting for the news that her boy has made it through, feels like the first time. “It never gets any easier,” she says, “but then after, relief floods through you, you take a breath, and then get ready for the next part… recovery.”
YOU ARE NOT ALONE
Kylie hopes that by hearing Jacob’s story, other families living with Goldenhar syndrome, won’t feel so alone. She knows what it’s like to feel isolated – the countless hours in hospital waiting rooms, the long days mentally preparing for high-risk surgery, and the long weeks adjusting to new variations of ‘normal’.
“In the early days, it was very lonely. People tried to understand and have empathy, but until you live it, you really can’t,” she says.
These days, Kylie and Aaron have a close, supportive group of friends, but they’ve also come to realise, that they are on their own journey. Sometimes friends will tell Kylie about minor worries, like their child falling over and scraping their knee or having a cold, and then stop mid-sentence and apologise. But Kylie is always quick to remind them not to compare their journey with hers. “What is hard for you, is hard for you,” she says, “it’s your journey and no one else can walk your path. My son having 16 surgeries is our norm. My daughter having autism and ADHD, that’s our norm.”
A MOTHER’S INTUITION
Home in Tassie after surgery number 16, and some post-op complications, Kylie is grateful for Jacob’s incredible strength and resilience, and her finely tuned “mother’s intuition”. After complex spinal surgery, where they removed some hemi vertebrae and straightened Jacob’s spine, the recovery didn’t look like Kylie knew it should. Despite Jacob’s temperature being in the normal range, Kylie knew he had a fever, and she didn’t let up until the doctors listened. Thankfully, she didn’t. Jacob’s bowel had stopped working and his liver and kidneys were not functioning properly. With the correct treatment, he was soon on the road to recovery and able to go home.
Kylie insists that “if you think your child is not right, you’re not wrong. They (doctors) might have a medical degree, but you know your child best,” with no disrespect intended to the incredible doctors who help keep Jacob alive. “Don’t ever, ever stop fighting for them,” she says.
He may have the most extreme symptoms of any child in Australia with the same condition, but Jacob’s smile shows no signs of adversity. Every day his family is inspired by his bravery – the way he manages his pain, disappointments, frustrations, and living a very different life to other kids his age. Kylie says, in some ways Jacob is just a “normal” teenager, and they have the usual battles over too much gaming, and not enough showering. But the way Jacob approaches life, with positivity, little complaint, and nothing but a couple of Panadol for the pain a week after major surgery, is something extraordinary. “He’s our inspiration and we are so proud of him,” Kylie says, “when we start to go through a tough time, we think, ‘if Jacob can go through what he has with such grace, dignity and courage, then we can get through anything too’.”
He really is their golden boy.