Progeria Awareness

About the Progeria Research Fund

The Progeria Research Fund is a non-profit organization devoted to finding the cure and effective treatment of Progeria and similar disorders. The Progeria Research Fund (PRF) was created in 1999 by Dr. Leslie Gordon and Dr. Scott Burns recently after their son, Sam, was diagnosed with Progeria. After the diagnosis, Sam’s parents discovered that there had been little research, information, or awareness about Progeria. The lack of information and funding for Progeria inspired Sam’s friends and family, and colleagues of Sam’s parents to create the Progeria Research Fund. Today, with the exception of staff, everyone working with the Progeria Research Fund is a volunteer which allows more of the money gathered to go towards research about Progeria.
The administration of the Progeria Research Fund is led by Audrey Gordon, the president and executive of the PRF. Leslie Gordon, a co-founder of the PRF, is the medical director of the PRF. Dr. Gordon oversees the medical research and trials of the PRF. Scott D. Burns, another co-founder, is the chairman of the board of the Progeria Research Fund. The PRF now has seven chapters located throughout the United States. These chapters are led by volunteers, who’s goal is the spread awareness and conduct local fundraising for Progeria.
The overall goal of the PRF is to find a cure to Progeria. The organization does not directly help specific children with Progeria, however, the PRF focuses on research and finding treatment for all children with Progeria. To date, the Program Research Foundation has raised 6,694,209 dollars. This money has gone towards crucial projects, such as PRF Diagnostic Project, PRF Cell and Tissue Bank, and PRF clinical studies.
In 2008, the Progeria Research Fund collected a revenue of $1,210,367. $565,211 came from special events such as galas or volunteer fundraising, $364,376 came from individual giving, and $280,780 came from private foundations. The Progeria Research Fund spent $1,086,583 of the collected money in 2008. The majority of the money, $639,185, went towards research programs such as the Progeria Research Fund Cell & Tissue Bank, Diagnostic Testing, and Clinical Trials for Progeria. $228,250 went towards funding for a research grant, and $75,002 went towards outreach and education for Progeria. The administration of the PRF spent $144,146 in 2008.
The Progeria Research Fund has indeed made great strides in their goal of finding the cure to Progeria. In 2003, the gene which causes Progeria was discovered, and it is clear that the PRF was essential in this discovery. The PRF has also developed a successful diagnostic program, which helps prevent misdiagnosis, which ensures that scientists are not working with improper cells and tissues. A clinical drug trial taking place at the Children’s Hospital in Boston has also occurred due to the PRF’s fundraising. The Progeria Research Foundation has also spread awareness about Progeria, so today it is a much more acknowledged disease. The PRF has also worked on countless other projects, making it a very accomplished organization.
The Progeria Research Foundation works to help a problem which does not affect many, therefore the foundation has not helped tons of people’s lives. However, even if the foundation does not help a large population, its is the most helpful organization for people with Progeria. It is very important that this foundation exists, because if it did not, there would still be no research or awareness for people with Progeria. There may be more pressing issues today than Progeria, however, even small issues must be addressed, and the Progeria Research Fund successfully does this.

Pictures of Children with Progeria

Treatments for Progeria

Unfortunately, no successful treatment to Progeria has been found yet. Most treatments focus on reducing complications with Progeria such as heart bypass surgery or low doses of aspirin. Growth hormone treatments have also been attempted as treatment. Farnesyltransferase inhibitors (FTIs) is a type of anticancer drug which has been proposed as treatment, however, doctors are not sure of the effectiveness of FTIs . Although a treatment has not been found, science has made great strides in finding information about Progeria and there is much hope for the discovery of a successful treatment.

What is Progeria?

Progeria can be defined as a disease of accelerated aging. A person with Progeria looks noticeably strange, with a big bald head, small mouth, visible blue veins, shortness, and stiffness when walking. Children with Progeria look so strange because rapid aging is occurring despite that the child is still very young. A child with Progeria may have many of the same health issues that an elderly person may face, and usually die of a heart attack or stroke. However, Progeria does not affect the way a child thinks or acts. A child with Progeria may still be very happy, and can be very social.

Cause

The cause of Progeria is a mutation in a person’s DNA which produces a defective chromosome which causes premature cell death. The gene with the mutation is called LMNA. The defective LMNA gene produces Lamin A which is a protein. Lamin A is a protein that holds the nucleus of a cell together. When this protein is defective, the nucleus is unstable, causing premature cell death. The defective gene which causes Progeria is rarely passed down through families.

Symptoms

The earliest symptom seen in a person with Progeria is a failure to thrive (poor weight gain and growth) and sclerotic skin. Once the child is older, more symptoms become apparent such as a ‘bird-like’ face (a small face and jaw with a pinched nose), excessive thinness, and alopecia (hair loss). People diagnosed with Progeria usually have small and fragile bodies with wrinkling skin like that of an elderly person. A child with Progeria may also have cardiovascular and bone abnormalities.

Population
Very few people are diagnosed with Progeria. About 1 in 4 to 8 million newborns are diagnosed with Progeria. Progeria affects both sexes and all races equally.

Prognosis
Unfortunately, because a cure has not yet been found for Progeria, the average child with Progeria will live to be about 13 years old. However, some people with Progeria have lived to be almost 30 years old. 90% of people with Progeria die from a complication of atherosclerosis, such as heart attacks or strokes. Although people with Progeria age quickly, they usually do not develop cataracts or osteoarthritis, and are not predisposed to diseases like cancer. Progeria does not affect the mind at all, so only the body is affected. Physical life for children with Progeria is similar to those of elderly people because they have difficulties with mobility, however children with progenies still have lots of energy.