The gift of growing old is one that few appreciate. Or more poignantly, “Do not regret growing older. It is a privilege denied to many.”
On January 10, 2014, at the age of 17, Sam Berns, a Massachusetts high school junior, passed away. At the age of 22 months, Sam Berns was diagnosed with Progeria Syndrome, otherwise known as Hutchinson Gilford Progeria Syndrom (HGPS). This disease was named after the two individuals who independently first described it: Jonathan Hutchinson (in 1886) and Hastings Gilford (in 1897). Those who suffer from this genetic disorder experience premature aging. It is conjectured that this disorder was in fact the inspiration behind the 1922 short story “The Curious Case of Benjamin Button”, written by F. Scott Fitzgerald. This short story was subsequently the basis of the 2008 American film directed by David Fincher, also entitled The Curious Case of Benjamin Button.
Progeria affects 1 in 4-8 million children, and statistically, only 200-250 children in the world are afflicted with this disease at any given time. Children with this disease are generally born with a healthy appearance, while the characteristics associated with Progeria usually present themselves within the child’s first year of life. As the disorder begins to take a toll on the child, growth failure, osteoporosis, heart disease, stroke, loss of body fat and hair, aged-looking skin, and stiff joints are expressed. Children suffering with Progeria resemble one another, despite the fact that they may come from different ethnic backgrounds. The average life span for a child with this disease is around thirteen years, as the individual usually succumbs to heart attacks or stroke. Generally, normal motor and mental development are retained.
HGPS is not normally a disorder that runs in families. The genetic mutation is one of chance and is extremely rare. HGPS is considered a “sporadic autosomal dominant mutation.” It is “sporadic” in that it is a change not passed on through the family; it is considered “dominant” because there need only be one copy of the abnormal gene in order to create an affected individual; it is considered “autosomal” since the chromosomes affected are autosomal, or non-sex chromosomes.
In 1999, Sam’s parents, both physicians, established the Progeria Research Foundation (PRF), where they worked tirelessly to isolate the causative gene. On April 16, 2003, the discovery of the Progeria gene was announced in Washington D.C. The conference included, among others, Dr. Leslie Gordon (Sam’s mother), and Dr. Francis Collins, the head of the Human Genome Project (a project attempting to determine and map out the base-pair sequences which formulate human DNA).
The PRF discovered that a mutation in the LMNA (“lamin-a”) gene is the cause of HGPS. The LMNA gene produces the lamin A protein which holds the cell’s nucleus together. The abnormal lamin A protein is termed progerin. Progerin causes the nucleus to become unstable. This instability is responsible for the rapid and premature aging that is seen in people with HGPS.
Scientists believe that by studying this disease and the lamin A proteins, they will be able to better understand the process of regular aging and the heart diseases that subsequently present themselves. Every human produces a small amount of progerin, yet those with Progeria disoder produce much more progerin than those without the disease. The progerin that builds up within the body throughout one’s lifetime may cause certain medical issues associated with aging, such as atherosclerosis (hardening of the arteries). Progerin is also linked with a dysfunction of telomeres—proteins that participate in cellular aging.
As of late, there are no known cures for the disease, but research is on-going. Developing a cure for Progeria will not only aid these children suffering from HGPS, but may also enable the treatment of millions of elderly adults who are suffering from heart disease and stroke due to the natural phenomenon of aging. In September 2012, in the first clinical trial, a farnesyltransferase inhibitor (FTI) was established as the first treatment for Progeria. Research is still underway, and more possible cures are being explored.
As I did research upon this rare disorder, many articles came up with regards to Sam Berns. The constant recurring theme that presented itself, however, was that Sam lived his life always approaching every situation with his upbeat, friendly, and happy personality. His inspirational story has even been made into a film entitled Life According to Sam.
With all of the developing technology and in-depth research that is being done in regards to progerin, the hope remains that one day a cure will be found to enable these children to live a completely normal life. Yet, simultaneously, it also becomes increasingly important to question the ethics surrounding researching the natural aging phenomenon. At what point will the line be drawn as scientists delve into the studies surrounding how human beings age? Preventing normal individuals from aging is a scientific endeavor that can easily be seen as becoming an attempted reality, yet the effort to take this type of natural phenomenon into human hands is one that would pose major ethical dilemmas. And so, as research is conducted, let us hope that science does not lose sight of its goal: to find a cure to enable these children to live normal long healthy lives. In the meantime, we can learn an immeasurable amount just by looking at the short but impactful and inspirational life of Sam Berns. As Sam himself said on TEDx MidAtlantic 2013, “I don’t waste energy feeling bad for myself. I surround myself with people I want to be with and I keep moving forward. With this philosophy I hope all of you can have a happy life as well.”