Posted on behalf of Brendan Maher
When US President Barack Obama introduced his $215 million precision medicine initiative early this month, he showcased his politician’s penchant for sharing the inspiring personal stories of extraordinary citizens. One story that might be familiar to Nature readers was that of Hugh Rienhoff and his daughter Beatrice.
Now two documentary film makers, Allen Moore and Kori Feener, are raising funds via Kickstarter to tell Bea’s story — of “a violin-playing, theatre-performing tomboy with a disease so rare, no one else in the world has it” (see below). (For what it’s worth, Hugh prefers to call what Bea has a “condition” because he does not want her to feel limited by the negative connotation of the word “disease”). Feener adds, “We also want to focus on family advocacy.”
The funding drive finishes, fittingly, on International Rare Disease Day — 28 February.
Hugh, a trained clinical geneticist, embarked on a quest to identify the genetic cause of a puzzling array of symptoms affecting Bea, such as fingers and toes that won’t uncurl all the way and an inability to put on much muscle mass. After reading, consulting, cloning Bea’s genes in his basement and enlisting the help of a major genome sequencing firm, Hugh eventually identified the cause: a mutation in the gene that encodes transforming growth factor-β3 (TGF- β3), one of a family of signalling proteins involved in development and cell differentiation. He has since been working with a group of researchers to study Bea’s version of the gene in mice (Bea has one named Almond Joy in her bedroom), and he has been collecting examples of other people who share similar genetic variants. His hope is to best understand what lies in store for his daughter as she grows older. It is a profound example of what a parent might be able to do given the right tools, support and knowhow.
Such stories have undeniable power. And resonance: much of Hugh’s diagnostic odyssey is familiar to parents who have bounced from doctor to doctor hoping to hear something other than “We just don’t know”. Nicole Boice, inspired by these experiences, founded a rare-disease advocacy organization called Global Genes in Aliso Viejo, California, in 2008. “That sense of isolation is very common: the impact on the family on finances, dealing with insurance and finding someone who cares about this from a scientific perspective.”
Sharing the insights
Global Genes has a useful collection of documentaries and dramas recounting similar stories. It includes what many consider the prototype: Lorenzo’s Oil, George Miller’s 1992 film about Augusto and Michaela Odone’s quest to find a treatment for their son’s adrenoleukodystrophy, a fatty acid storage disorder that affects the nervous system. Tom Vaughan’s 2010 drama Extraordinary Measures tells the story of John and Aileen Crowley, who quit their jobs to found a biotech company in order to find a cure for the neuromuscular condition Pompe’s disease, which affects their two children. It’s inspiring — and fun, starring Harrison Ford as a brilliant but acerbic scientist. (Think Han Solo with a pipettor.)
The list also features recent documentaries showing how families and patients affected by rare diseases such as progeria, a rare disorder with symptoms that resemble accelerated aging (Life According to Sam), and the lysosomal storage disease Neiman-Pick Type C (Here.Us.Now.), are becoming more empowered, engaging with the science and taking their future into their hands.
International Rare Disease Day is a moment to raise awareness of under-the-radar conditions that don’t have huge support groups, research associations or lobbying arms. The White House initiative is slated to use genome sequencing on a cohort of 1 million Americans to further assess its value in delivering the right treatments, and it may ultimately enhance that awareness.
Although in Hugh’s eyes Bea will always be one of a kind, he knows there are others like her. Scientists have already uncovered at least three other individuals with mutations in the same gene, and they may help to provide guidance in keeping Bea healthy. “The truth of the matter is, there’s going to be a whole category of people: onesies and twosies and threesies of the genetics world. And that number of people will only grow.”
For Nature’s full coverage of science in culture, visit www.nature.com/news/booksandarts.