Mission Massimo part one: medical no man's land
The love Stephen and Sally Damiani have for their children knows no bounds. When they were told their baby boy had a rare, unknown illness they started a mission, against the odds, to diagnose their son’s genetic condition and ultimately find a lifesaving cure.
Massimo was born a happy, healthy baby. As a first time mum, Sally Damiani did everything by the book, and for most of the first year her baby boy was thriving.
He was pulling himself up onto furniture to stand; saying his first few words and hitting all his milestones.
But by the 11-month mark he started to regress.
“He stopped cruising the furniture, then he stopped holding his own weight, and then his crawling got progressively slower and slower until he just couldn’t crawl and he had one or two words when he started, he used to say Ollie which is our dogs name, he lost that,” says Sally.
“Watching that deterioration and not knowing what was causing it, we just couldn’t deal with it.”
The day after his first birthday Sally and Stephen took Massimo in for a check-up. He was referred to a neurosurgeon that day, then was immediately sent for an emergency MRI (magnetic resonance imaging) scan.
“It literally finished at 2am and it was like a scene out of the movies where we got taken into a little room by the registrar who didn’t tell us much.”
“He was just asking these strange questions like are you guys related, did you go on any weird diets, did you breast feed or bottle feed?”
They were told Massimo’s brain didn’t look normal, but beyond that they had no answers.
The following day his neurologist explained Massimo’s myelin (a fatty substance that acts like insulation around the nerves) wasn’t normal.
He was sent for a barrage of tests, among them a pathology request for Leukodystrophy.
Although doctors warned her not to, Sally Googled the condition and was overwhelmed by what she read about this group of conditions.
Leukodystrophy is a group of conditions which mostly impacts white matter in the brain and the spinal cord. In most cases it gets worse over time and causes the loss of normal brain function. Early onset in particular, normally means the person has a short lifespan (about 3-5 years).
“I remember just sitting there reading, thinking this one looks better than this one because it’s got a clinical trial or this one is better because they live to seven years not five years. So it was awful, they all sounded awful,” says Sally.
They went home devastated, but used their energy to arm themselves with knowledge.
Stephen and Sally assumed they would get a proper diagnosis, but when the test results were back a week later, they were all negative.
Doctors could only tell them it was a rare genetic disease, but if they didn’t know what it was, how could they fight it?
After many months and expensive and invasive genetic tests, they began to exhaust all known types of Leukodystrophy and every test came back negative.
They were down to two conditions to test for, but instead of paying for two separate and expensive tests, Stephen and Sally decided to sequence Massimo’s entire genome. A process that meant they were given a computer disk containing the complex code to their son’s genetic makeup that’s billions of letters long.
They had the data, but finding someone who could ‘crack the code’ and work out where the problem lay, was something experts thought impossible.