PROGERIA

Adrianna Blake| Bio (H) 1| 3rd MP Project | March 14th, 2014

What is Progeria?

Progeria is an extremely rare genetic disease in children that produce rapid aging and can be characterized by symptoms and physical signs. It is estimated to affect only one in four million newborns worldwide. It originates from the Greek word “geras”, meaning old age. The most severe form of this disease is called Hutchinson-Gilford, founded in 1886 by Dr. Jonathan Hutchinson.

What are the symptoms?

At birth a child with Progeria will appear normal, but within one year, the weight, height, and growth rate is below average. Affected children develop a distinct appearance that includes a pinched nose, minor face, elderly-looking skin, and baldness. Not only do these children look elderly, their bodies start having some symptoms that much older people have, such as stiffness in joints, dislocation of the hips, and severe heart diseases.

How is it diagnosed?

Now that this gene mutation has been recognized, The Progeria Research Foundation has made up a Diagnostics Testing Program. Doctors can now look at the specific genetic change in the Progeria genes and lead to HGPS. After looking at a child’s medical records and appearance, the child will be tested for the Progeria gene through a blood sample. This will lead to more precise and earlier diagnoses so that the children can receive proper care.

What is the treatment?

Some children with Progeria have attempted angioplasty and/or coronary artery bypass surgery in hopes of easing all of the heart complications. Unfortunately, there is currently no cure or treatment for this dangerous condition.

What is the patient’s lifespan?

Dealing with a patient with Progeria, death usually occurs between ages 13-18, typically from a stroke or heart attack.

16-year-old with Progeria An Inspiration to All

What is some current research?

The most current news on Progeria is the first-ever clinical drug trial release on September 24th, 2012. A type of farnesyltransferase inhibitor (FTI) called Lonafarnib, was originally developed to treat cancer patients, but has proven to affect Progeria patients as well. Children with Progeria have shown improvement while taking this medicine such as, increase in flexibility of blood vessels, weight, hearing, and improved bone structure!

Interesting Facts!

  • The patients' average intelligence are usually ineffective due to Progeria.
  • In 2005 there were only seven children in the United States with Progeria.
  • Progeria affects boys slightly more than girls.
PSA- Progeria