Sunday August 11, 2013
Reporter: PJ Madam
Producer: Ali Russell
Louise Wedderburn is not just one in a million - she’s one in two million. The 19-year-old from a tiny fishing village in Scotland has one of the rarest diseases in the world – a genetic condition called Fibrodysplasia Ossificans Progressiva, or FOP.
There are only 800 known sufferers worldwide. As she ages, the soft tissue in her body is slowly morphing into a second skeleton. Her muscles are turning to bone. Eventually, she will be frozen as stiff as a statue. She’s turning into a ‘human mannequin’.
Little is known about the cause of FOP, but what is known is that it cannot be stopped. There is no known cure. A bump, a bruise, a virus, even a simple vaccination is enough to cause an explosion of new bone growth, further locking up the body. Surgically removing this new bone only causes more to grow. Babies born with FOP have characteristic malformed big toes, the first and often only indicator of the disease at a young age. It is crucial to identify the disease early – a misdiagnosis can lead to treatment that exacerbates or dramatically accelerates the illness.
This is something the Sydney family of seven-year-old Zach Armstrong knows all too well. Misdiagnosed as a toddler, inappropriate medical treatment has drastically accelerated the disease, leaving Zach terribly debilitated despite his young years.
The average life expectancy for sufferers of FOP is 41 years old. Tragically for Zach, it may be even sooner. Once bone forms around the chest wall, the chest becomes so constricted that sufferers ultimately die from lung infections or heart failure. But a cure may be only a few years away.
Dr Fred Kaplan from the University of Pennsylvania has devoted his life to researching FOP, a disease is so rare it’s known as an ‘orphan disease’. After 27 years of hard work, he estimates he may be only five years from a cure.
If you’d like to donate directly to Zach and his family, visit their Go Fund Me donation page.
Thanks to Zodiac for the use of documentary footage in this story.
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