He’s been defiant from the first minutes he was not supposed to outlive; through the February deadline by which time he was supposed to be blind; to today – his first birthday. But for all his triumphs, the long-term outlook is unclear.
Experts are 97 per cent certain he has the ultra-rare Bardet-Biedl syndrome, a genetic disorder affecting about 1 in every 140,000 caucasian births.
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It can cause blindness, deafness, obesity, polydactylism (Robbie has 12 toes and an attempt at an 11th finger), bone deformity and organ problems, most notably with the kidneys.
Robbie’s kidney problems are more pronounced than other cases and doctors are careful in their predictions.
“They don’t want to get ahead of themselves or let me get ahead of myself,” Jennifer, 40, says.
“I thought ‘Kids have kidney transplants’, so I didn’t really understand it when they said there’s nothing we can do.
“I felt like shaking them and saying ‘Yes there is’. But they don’t want to give me false hope. They don’t talk much about his long-term future. They don’t talk about going to school. It’s hard to prepare and keep positive. You sort of have to be in denial to keep positive, but at the same time I want to know it and be ready for it.”
What appeared a normal pregnancy turned five weeks before Robbie’s birth, when ultrasounds showed something was very wrong.
Doctors incorrectly believed he had no shoulder blades, no collarbones and had fused wrists. They were right, for the most part, about serious organ problems.
It sent Jennifer, a single mum with no great means, into a dangerous spiral of depression and anxiety.
“It was a lot to brave up to, but you have no choice,” she says. “The feeling, I can’t describe it. When you see your baby it’s instantly love, but then you have this sinking feeling, too.”
As Robbie grows, Jennifer is coming to terms with the fact she will not be able to look after him without specialist help. It is a blow to her pride and natural independence, but it is the truth.
Born just 5.5 pounds (2.49kg), Robbie has grown 1.5kg in some weeks to become one of the largest babies for his age in the world.
Guinness World Records did not respond to NT News queries, but it is believed there is another one-year-old out there, somewhere, who is 22kg.
Many BBL sufferers are obese, but Robbie needs extra liquids because of his kidney problems – some days he’ll go through three litres of fluid.
The upshot is a weekly nappy bill of $66.
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His diet, carefully crafted through Jennifer’s trial and error (it took nine months to get an appointment with a dietitian) is mostly baby formula and kidney-friendly apple juice, supplemented with mashed vegetables.
“I feel really sorry for him that I’m not able to do things that I did with the other kids, things like throwing him up in the air,” she says.
“It’s only three times before your shoulders are burning and you might have even pulled something in your back. And then me feeling guilty. That really cuts me.”
Jennifer has been told the genetic probability of her and her then-partner finding each other (both are carriers of the rare genes responsible for BBS) was one in 356 million.
Her four other children are all healthy – her next youngest even has near-photographic memory. As for Robbie, his talent is music – he can already shake his toy bells to the beat of a song.
He will likely go deaf one day, and completely blind sooner rather than later.
It is doubtful he will ever crawl, let alone walk, and he may experience learning and behavioural problems should he survive to school age.
But for now, Jennifer is enjoying every day.
“He wakes up every day with a smile,” she says. “I know he doesn’t know he has a short life expectancy, and he’s not in a lot of pain, but he’s happy, so why should I be miserable?”
Source: NT News