18 March 2013
ByAppeared in BioNews 697
Channel 5, Monday 18 February 2013
Featuring Mandy Sellars
The stump of Mandy's amputated left leg is one metre in circumference, the size of an old vinyl record. Mandy Sellars has a rare genetic condition that meant her legs continued to grow after the rest of her body stopped. In 2010, an infection led to an amputation just above the knee. The amputation caused her leg to grow even larger.
Shrinking My 17 Stone Legs, part of Channel 5's Extraordinary People series, picks up Mandy's story after her amputation. The 38 year old can barely fit into her third prosthetic limb, her expanding leg has gained three stones of fat and she is outgrowing her home of ten years. And if that wasn't enough, the drama is heightened by the entrance of a three year old American girl, Emmaleigh, born with a similar condition.
I say 'drama' because this show tries very hard to make a story about personalised medicine that is interesting for its own sake into something of a docu-soap, and not to great effect.
Dr Robert Semple took on Mandy's case. Dr Semple, an endocrinologist at Addenbrooke's Hospital, UK, removed skin biopsies and compared the DNA code in cells taken from Mandy's arm to cells taken from her legs. He discovered a genetic error in the growth gene PIK3CA, meaning that a signal to keep growing is switched on in Mandy's legs. Here, the show achieves admirable lucidity in its explanation of mutation and gene expression; something that should be encouraged in more documentaries.
At the moment of diagnosis, Mandy finds out the mutation was not inherited but occurred due to 'plain bad luck'. This reveal leads to what were, for me, the two most interesting aspects of the episode.
Armed with the name of what causes her condition, Mandy feels as if she has discovered a new part of her identity. Indeed, she gets it emblazoned on a tattoo. A double helix with the word 'PIK3CA' next to it acts as 'a permanent reminder of who Mandy Sellars is'. A similar revelation hits her parents. Up until now, they thought Mandy's condition was due to something they 'did wrong' and had to live with the guilt – a burden removed by their daughter's diagnosis.
Two moments where science and humanity collide beautifully, glossed over. I would have loved some exploration of the emotions caused by passing on a genetic condition to a child, or of how science can help us understand who we are (or who we think we are). I would watch an entire series dedicated to those topics. Maybe I demand too much from Channel 5.
With a diagnosis in place, Dr Semple finds a drug that may potentially stop Mandy's growth and perhaps even reduce it. Rapamycin, originally discovered in Easter Island bacteria, is normally prescribed to prevent the rejection of transplanted organs by supressing the immune system. The drug can have many side effects, including a risk of developing diabetes.
After a battery of tests confirming Mandy's strong constitution, she is to become a human guinea pig. A guinea pig not just for herself but also for Emmaleigh, the three year old born with a similar condition. Cue a shot of Mandy's hopes summed up in a little white pill.
Three months later and Mandy has lost a little over nine kilograms of fat from her legs. That's around the weight of a car tyre. Cue thumping, triumphant music.
Perhaps it's my cynicism about this style of documentary making (and perhaps I've been spoilt by the sophistication of BBC nature documentaries), but between the hackneyed set pieces and the swelling arpeggios hitting all the right emotional crescendos at precisely the right time, I was left feeling an odd mixture of boredom and discomfort.
It's not that I felt no empathy for Mandy – she comes across as immensely likeable. It would be glib to call her persistent optimism 'brave', but there's something really quite moving about her insistence in not letting her condition rule her life.
Rather, my reservations lie in the need to squeeze emotion out of every scene in this limited exposition of personalised medicine. You know at the outset that someone at some point is destined to cry. There's the boredom. Then you get to gawk at Mandy's bloody ingrown toenail removal and stare as she struggles to get onto her bed. That's the discomfort.
Other episodes in the Extraordinary People series include 'Octopus Man' and 'She Stole My Fetus'. Perhaps my bar was set too high. Ultimately, each viewer will decide their own acceptable levels of prurience.