At six months Joshua was diagnosed with a rare type of dwarfism that results in multiple physical problems including skeletal abnormalities, an unstable neck, club foot and means he may only grow to be three feet tall.
Joshua walks confidently around the room, talking and smiling cheekily, like any two year old. Clamouring for his mother’s attention, he trips and she gasps, flinging her hands out to catch him. He clutches the sofa and giggles, and she visibly relaxes. If her reaction seems overly dramatic, it’s not. Unlike other two year olds, a simple fall could prove fatal.
After a straightforward pregnancy with son Jesse, now three, Michelle Xavier and her partner James Paulson conceived again, just nine months later. The pregnancy progressed smoothly until a 20-week scan revealed their unborn child had congenital talipes equinovarus, more commonly known as club foot. Their shock turned to relief when they realised it was treatable.
At 26 weeks they received another shock when Michelle says, “We got told his limbs weren’t growing as they should and were up to three to four weeks behind.” Doctors suggested they terminate the pregnancy, or brace themselves for the likelihood their baby would die due to a suspected lethal form of dwarfism. Michelle is still astonished that medical professionals continually urged her to end her baby’s life.
“That is something I will never forget. To be honest, it wasn’t an option for James and me. We just thought, he’s still our child and there’s no way we could do that. We stuck to our guns and it’s such a good thing we did.”
Doctors suggested they terminate the pregnancy, or brace themselves for the likelihood their baby would die due to a suspected lethal form of dwarfism.
With no history of dwarfism in either family, Michelle admits she felt like a “lab rat” as doctors attempted to understand the cause and extent of her baby’s issues. She was told Joshua’s condition was “a freak thing that happened at conception”, occurring in less than one in 100,000 pregnancies.
On New Year’s Eve 2013, Joshua arrived via caesarean in a room filled with breathing apparatus and an entire team of doctors. Only 41cm long, the focus was his tiny chest. When Michelle heard “a magnificent roar” she knew his lungs were fine and the breathing machines remained unused. Monitored in ICU for a few days Michelle took Joshua home a week later, overwhelmed by how to care for him.
At six months Joshua was diagnosed with spondyloepiphyseal dysplasia congenita (SEDc) – a rare type of dwarfism that results in skeletal abnormalities, extremely short stature, unstable neck, club foot and problems with the spine and joints.
Joshua’s uniqueness raises questions about his future prognosis. Michelle says, “I kinda wish there was another family in WA to talk to,” but she has found solace communicating with others via the SEDc facebook page. Their experiences offer her insight to what lies ahead, including the possibility Joshua may suffer ongoing chest complaints and become wheelchair-bound.
Speaking to a 60-year-old woman with SEDc gives Michelle hope Joshua will attain a normal life expectancy, but due to his diminished lung capacity, a common cold causes serious complications. A bout of gastroenteritis prior to Christmas, cost Joshua one third of his body weight and admission to hospital.
Michelle shares these details of Joshua’s condition and development on a Facebook page she created called, ‘More Than Just Small’, in the hope it may bring comfort to others around the world.
She documents his operation at seven weeks old to uncurl his feet. With such a small chest, any sedation is dangerous and Michelle says, “It look longer than expected for Josh to wake up.”
It breaks Michelle’s heart when Joshua cries at being strapped in, but the improvements in his mobility prove their worth.
For three months Joshua endured plaster casts so heavy, they would slip off. “Most of the time I sat in a nursing chair with him on my shoulder and that’s how we’d both fall asleep.”
Once removed, for 23 hours a day Joshua’s legs were encased in “boots and bars” – shoes connected to a shoulder-width metal bar to ensure his feet remained at right angles. Now he must wear them for 12 hours each night, until he turns four. Getting tangled in sheets, banging the apparatus on the bars of his cot or wanting a feed, means he rarely sleeps for long periods. It breaks Michelle’s heart when Joshua cries at being strapped in, but the improvements in his mobility prove their worth.
Everyday activities are potentially life threatening for Joshua. “The doctors have told us no rough play, no jumping castles, no trampoline.” It saddens Michelle to explain to Jesse why his little brother is unable to join him on playground equipment. “It’s hard to think about because I want to do the same things I did with Jesse, but I know some things I will never be able to do, nor share that experience with him.”
The unstable bones in his neck increase Joshua’s risk of spinal cord damage. It’s highly likely surgery will be required to fuse his vertebrae in an attempt to stabilise his neck.
Initially Joshua’s intellectual and physical development were delayed but now appear on track. Michelle says, “Because he had such a big head for his body size he found it difficult to hold his head up.” At 13 months of age, Joshua sat in a special chair for 20 – 30 minutes a day for three months, enabling him to strengthen his back. It prepared him to sit unaided at 16 months. He spoke at 14 months, stood at 17 months and took his first step at 18 months.
He still wears size 00 and doctors predict Joshua may only grow to three feet, so Michelle’s worries include everything from bullies, school playtime, reaching door handles, turning on switches and flushing toilets.
Joshua attends up to eight appointments a month but these are dwindling as he gains independence. Since his birth Michelle admits to suffering anxiety. He still wears size 00 and doctors predict Joshua may only grow to three feet, so Michelle’s worries include everything from bullies, school playtime, reaching door handles, turning on switches and flushing toilets, to the fact the world does not accommodate people of his small stature.
Michelle also worries how she’ll explain everything to him. “It makes you think when Joshua is a bit older … he’s going to ask questions. Why aren’t I taller like Daddy? Why can’t I go on that with Jesse? I have to brace myself. I still think about it every day. What do I tell him? How do I tell him?”
“We could easily be angry all the time … I know we’re going to have some people who [are nasty], but we also have people who are genuinely interested in him, as a person, not just his size.”
She will be his advocate for as long as possible but concedes it can be overwhelming when people stare and comment. Having a child with special needs who requires constant supervision places added pressure on Michelle and James but she says, “James is my rock. He’s such a great dad. I think our relationship is definitely stronger since having Josh. It’s opened our eyes to different things we used to take for granted.”
She adds, “We could easily be angry all the time … I know we’re going to have some people who [are nasty], but we also have people who are genuinely interested in him, as a person, not just his size.”
She hopes her smallest son soars to incredible heights in his life and says, “He was born to stand out, there’s no point hiding him. As long as we make Joshua feels comfortable with his condition and show that we love him no matter what, I think that will be enough to make him venture out there.”