A new documentary on rare disease tells stories of courage and humanity
Thozamile Mciki was just eight months old when his body began to build a second skeleton.
Of course, he doesn’t remember this because he was only a baby when this started, but, today, at the age of 53, his entire body has become a visible representation of one of the rarest medical genetic conditions in the world – fibrodysplasia ossificans progressiva (FOP).
Mciki’s is one of only 900 known cases of people who have suffered from this grim disease, where healthy muscle, tendons and ligaments turn into bone (ossification) – and he is one of several stories of survivors of the disease depicted in the poignant new documentary feature film Tin Soldiers.
The film, which was directed by South African Odette Schwegler, premiered at the Jozi Film Festival on Saturday and tells the stories of survivors of FOP and their families from Europe, the Americas and in Gugulethu in Cape Town.
For those who made the film, for the survivors of the disease, and for the pioneering doctors and researchers of this horrendous condition, the film has started a global movement.
Mciki is one of the oldest survivors of the disease, and the film has given him a chance to talk about his long and challenging journey, and to educate others about it.
“When I was eight months old, I accidentally fell off a bed at home. A lump developed on my neck and the doctors didn’t initially know what was happening or what exactly was wrong. My mother took me to Red Cross War Memorial Children’s Hospital when she noticed that the swelling on my neck had spread to my backside,” Mciki told City Press.
The then unexplained swelling left his arms locked, which meant he could not learn to crawl or walk as other babies could.
Dr Christiaan Scott, who has a special interest in FOP and is the head of paediatric rheumatology at the Red Cross War Memorial Children’s Hospital, said: “FOP is unusual and unique in the sense that it’s the only condition we know of where one tissue in the body can turn another into something else. It sounds absolutely bizarre, but it boils down to a single mutation that acts as an inhibitor of the system that makes bone. This ACVR1 protein mutation, as it’s called, is the lock that sits on this system and develops the skeleton. If not tightly controlled, you get an over-expression of the urge to make skeleton and your body just makes more skeleton and more bone than it’s supposed to.”
There is currently no cure for the condition. It can be detected as early as when a child is born as its first visible sign is a malformation of the big toe.
Mciki – who was born before anything was known about the disease – underwent many operations and invasive physical investigations in hospital by doctors who didn’t know any better, and these caused more harm than good.
In 1989, US doctor Fred Kaplan, an orthopaedic surgeon, met a child with FOP.
Motivated to know and do more, Kaplan began a pioneering second career in FOP research – work that led to the discovery of the FOP gene, the seminal target for all therapeutic efforts for this condition.
“They were trying to correct my frozen shoulders,” Mciki said, but, instead, the constant trauma his body was being subjected to made the disease worse.
Kaplan, who arrived in the country last week, told City Press how harmful surgeries and probes such as biopsies were for a patient with FOP, as they added more signals to the gene to create more bone.
Kaplan is often described as “the godfather of FOP” as working on understanding the disease came to define his life’s work.
“I realised that no one was working on what this condition was, and all my colleagues would say to me that I should rather work on more common conditions such as arthritis. But, had I done that, what of the other children years later who would still have this condition no one knew about?” he said.
As Mciki grew, so did the condition. He is immobile and uses a specialised wheelchair, but his brain is as sharp as ever.
He said that he had enrolled at Unisa for a BCom qualification, but had to withdraw because of a lack of funds.
However, that didn’t stop him from completing other smaller courses over the years because “I wanted to still make something of myself”.
And that’s the spirit Schwegler said was most amazing among all the survivors interviewed for the film.
“This journey has touched me in many ways. The survivors are examples of the best of humanity … about humanity and living in the moment,” she said.
Kaplan describes the time he started researching the disease as a “wasteland” because nothing was known about it and there were no tools or even equipment to help make a diagnosis.
Of the film, he said: “If one mother in a remote area in the world can watch it and say ‘this is what my child has’, it will have been a victory.”
Health journalist | City Press
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