12 years ago, I completed a 30-minute documentary film about Taryn Murphy, a then-21-year-old young woman, living in Baltimore, suffering from a rare lysosomal storage disease known as Alpha Mannosidosis. In the movie, I explored the causes and symptoms of Taryn’s condition while keeping the main focus on the lives of Taryn and her parents, Paul and Debbie. Since that time, the documentary has followed its own trajectory through the few organizations that support research into the disease, as well as through the many afflicted families with children like Taryn.
In 2014, I discovered that Paul Murphy had posted the film on YouTube, where it has garnered, as of this writing, over 35,000 views (there are no other movies about this disease). One comment on the movie’s page read “Please do a follow up. it would be great to see how she is doing.” Shortly after reading that comment, I heard from Paul that Taryn was beginning to show signs of decline, and so I decided that now would, indeed, be a good time to make another film about Taryn, while she is still alive and (mostly) functional.
Symptoms of Alpha Mannosidosis include: mild to severe cognitive impairment; reduced immune system efficiency; mild to severe joint deterioration; hearing loss; bone and spinal abnormalities, such as an enlarged jaw, a small nose bridge, and a curved spine; as well as balance problems when standing or walking. In some sufferers, the onset in childhood is fast, overwhelming, and fatal. The only way to get this disorder is to be born of parents who each have a particular recessive gene.
My goal with this sequel, of sorts, is to record new interviews with Paul, Debbie and the medical community and follow them as they explore the latest treatments, which include a new study into gene therapy at the National Institutes of Health. Time is running out, however, as Taryn slowly loses, every year, more and more motor skills and cognitive functions. I would also like to travel to Rome, Italy, in November, 2017, to attend the 5th International Conference on Glycoproteinoses, with a small crew in tow, and place Taryn’s personal odyssey – and that of her parents – in the context of other families with related issues. I hope to make a film that can be a touchstone for all who seek information and understanding about this extremely rare disorder, building and improving on what I created before.
I hope to have the film completed some time in 2018.