Sam Berns and Audrey Gordon, director of the Progeria Foundation attend The New York Premiere Of HBO's 'Life According To Sam' at HBO Theater in New York City, Oct. 8, 2013. Getty Images

The 17-year-old boy, Sam Berns, who became the face of progeria, also famously called the “Benjamin Button” disease, died in 2014 from complications of the disease. He was diagnosed when he was just 22 months old.

In 2013, Berns had also been the subject of an HBO documentary called "Life According to Sam," which showcased his life and his parents’ research for three years, CNN reported at that time.

The disease became more prominent and well-known after the movie “The Curious Case of Benjamin Button” in 2008.

“Hutchinson-Gilford Progeria Syndrome or HGPS is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children. Its name is derived from the Greek and means ‘prematurely old,’” according to Progeria Research Foundation.

There are different forms of Progeria, however, the most common and classic type is the Hutchinson-Gilford Progeria Syndrome(HGPS), which was said to have been named after the doctors who were the first to describe it in England — Dr. Jonathan Hutchinson in 1886 and by Dr. Hastings Gilford in 1897.


HGPS is mainly caused by gene mutation. The gene, known as lamin A (LMNA), produces a protein necessary in order to hold the center (nucleus) of a cell together. When this gene is defective and has a mutation, an abnormal form of protein known as progerin is produced, which in turn makes the nucleus unstable. This instability then appears to pave the way to the process of premature aging in Progeria.

Unlike many other genetic mutations, Progeria is rarely passed down in families. It is very rare and occurs by chance in the majority of cases. It is not passed down in families, however, if there is already one child in the family who was born with the disease, then there might be a two to three percent chance that another sibling will have it.

Progeria Symptoms:

Most children do not show any symptoms when they are born, they are usually healthy, however, it starts to show in the first year, according to Children with the disease do not have normal growth and development or do not gain weight normally. They develop some physical traits unlike other children including:

  • A relatively smaller lower jaw
  • Larger eyes
  • Bigger head as compared to other children
  • Veins become visible
  • Ears tend to stick out abnormally
  • A high-pitched voice
  • Loss of body fat and muscle
  • Hair loss, including eyelashes and eyebrows
  • A thin nose with a "beaked" tip
  • Slow and abnormal tooth growth

Other health problems, which are linked to aging such as arthritis, cataracts and increased cancer risk, do not generally develop as part of the course of Progeria. The average life expectancy for a child with the disease is about 13 years, however, some may die younger and others may even live longer, as long as 20 years. The eventual cause of death for a child with Progeria are problems of the heart or strokes.

Children with Progeria have several complications that come with the disease.

They usually develop severe hardening of the arteries called "atherosclerosis." This is a condition where the walls of the arteries that carry nutrients and oxygen from the heart to the rest of the body become stiff or thick, thus resulting in restriction of the blood flow.

Most children with the disease die of complications related to severe hardening of arteries, including:

  • Problems with blood vessels that supply the heart (cardiovascular problems), resulting in heart attack and congestive heart failure
  • Problems with blood vessels that supply the brain (cerebrovascular problems), resulting in stroke, according to Mayo Clinic.

There is no cure for Progeria yet, however, ongoing research on the disease shows some advancement and promise for treatment, according to Mayo Clinic.