Summary:
Life According to Sam provides
insight into the life of Sampson “Sam” Berns and his family. At the beginning
of the film, Sam states, “I want you to know me.” Accordingly, the film
alternates between highlighting Sam’s experiences as he navigates life as a
teenage boy and his participation in the first ever clinical trial for
progeria. At the start of the film, Sam
is a 13-year-old boy in middle school. As with many other boys his age, his
interests include Legos, music, and spending time with his friends, or his
“bros” as he affectionately calls them.
But Sam was diagnosed with progeria just prior to his second
birthday. Progeria is a rare disease that affects approximately 250 children
worldwide, caused by a genetic mutation which codes for the formation of an
abnormal toxic protein, protegrin, that builds up in organs over time. It is a
premature aging syndrome that causes progressive cardiovascular decline and for
which there is no cure. The average age of death for these children is 13, and they
die primarily of heart attacks and strokes.
At the time of Sam’s birth his mother Leslie was a pediatric
intern and his father, Scott, a pediatric emergency medicine physician. After
his diagnosis, the family devoted themselves to progeria, an orphan disease which
at the time had no identified genetic etiology, no foundation, no research, and
no treatment. With the help of Leslie’s sister Audrey, the family started The
Progeria Research Foundation, which raised over $1.25 million dollars, funded
the discovery of the gene for progeria, and began the first clinical trials to
test treatment for the disease.
In the film, Leslie spearheads the first ever clinical trial
for the treatment of progeria. The drug, lonafarnib, had demonstrated efficacy
in mice and was FDA approved for a clinical trial including 28 children from 16
countries. The children would receive the medication for 2.5 years and return
to Boston Children’s Hospital three times per year for a battery of tests. At
the end of the trial, Leslie goes through the arduous process of writing up the
results and submitting the trial for publication in hopes of making the drug
more widely available for children with progeria. In the end, the trial results
are published and the results for individual patients are released. While the
medication falls short of being a cure, there are glimpses of hope in patients
whose disease progression has been slowed or even reversed.
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