Mission Massimo part four: Finding another Massimo
By this stage Stephen and Sally were Googling obsessively.
“As part of my daily searches I came across this program out of the children’s hospital in Washington [in the US] where they were collecting information about children with genetically undiagnosed Leukodystrophies, so we enrolled Massimo into that study.
The head of the study trawled through her data base and so did another doctor, a world expert of Leukodystrophy, who was working on a similar project in Holland.
“They pulled out a few different kids they thought would be matches and had their DNA sent to Ryan, he sequenced them and they eventually found a family of five that had two daughters that were affected.”
“They sequenced them and they were a match - we had confirmed a diagnosis.”
Before too long they had a sample of 10 patients – and had essentially discovered a new disease.
Another huge discovery – but this time it was celebrated by the medical fraternity and published in the journal Nature Genetics.
“Stephen had his name on the publication so that was pretty cool, a father having his name on the paper with all the doctors and researchers,” says Sally.
The Damianis were finally able to speak to other families to find out how they were treated and managed their symptoms.
They learned in some cases the use of steroids helped to manage symptoms.
“It’s not a cure or anything but it (the steroids) certainly helped improve his quality of life and that certainly brought home the reason we needed to find a diagnosis in the first place,” says Sally.
Stephen and Sally are currently managing Massimo’s condition with steroids, regular physio and speech therapy, but their focus hasn’t shifted from finding a cure.
They’ve now set up the Mission Massimo Foundation, which aims to prevent, diagnose, and treat Leukodystrophies.
They have a range of research projects, a stem cell model of Massimo’s condition and there are several researchers working on gene therapies.
“We basically have an enemy to fight and we’re now at a population of about 30 patients,” says Sally.
Any undiagnosed patients are being sent to Dr Ryan Taft’s lab at the University of Queensland. As a result, a diagnosis has been found for 200 kids and six new diseases have been discovered.
Sally says the project, which started in the lounge room of their Melbourne home, has become a world-wide collaboration of genetic experts working to find a diagnosis and cure for those in medical no man’s land.
While they admit it’s been a long, hard road, it was all for Massimo so they could look into his eyes knowing they’d done everything humanly possible to save him.
“Stephen had some moments where he was like ‘Maybe I’m just crazy thinking we could do this’ and I’d come in and dust him off and give him a pep talk,” says Sally. “Then there were times I’d get frustrated and over it and he’d do the same for me, so we were kind of lucky that his lows were my highs and vice versa.”
They’ve documented their incredible journey in a book, co-written by their family doctor, called Cracking the code.
Massimo is now 7-years-old and a proud older brother to twins Marco and Leonardo, who his parents say just adore him.
The Mission Massimo Foundation is currently testing a compound that mimics the benefits of steroids without the side effects, and are trying to correct gene defects with gene therapy.
It’s not a reality yet, but as Stephen and Sally have proven, anything is possible.