Progeria: Frequently Asked Questions
What is progeria?
Progeria is a term applied to a group of diseases whose symptoms mimic the signs of ageing. Most of these diseases manifest in early childhood, and cause patients to appear far older than their actual chronological age. They are also collectively known as progeroid syndromes. Of these, Hutchinson-Gilford Syndrome in particular is often known as simply ‘progeria’, although this designation is informal and may be confusing if other progeroid syndromes are also being discussed. ...
Source: courses.cit.cornell.edu
Hutchinson-Gilford Progeria Syndrome (“Progeria”, 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. " While there are different forms of Progeria
* , the classic type is Hutchinson-Gilford Progeria Syndrome, which was named after the doctors who first described it in England; in 1886 by Dr. Jonathan Hutchinson and in 1897 by Dr. Hastings Gilford.
Source: www.progeriaresearch.org
How many children in the world are diagnosed with Progeria?
As of February 2006, there are 42 children living in 20 different countries who have been diagnosed with Progeria; however we believe that there are more children who have this condition, but have not yet been diagnosed.
Source: www.progeriaresearch.org
Is Progeria a dominant or recessive disease?
It is Dominant. Back to Top 4. I need to interview a researcher or other expert in the field of Progeria. Unfortunately, we cannot provide interviews and we do not provide the contact information of others. However, our Medical Director has helped create this Q and A and all other information on Progeria that appears on this site, so perhaps that is sufficient to satisfy the interview requirement for your report.
Source: www.progeriaresearch.org
What is it like for a child to live with Progeria?
John Tackett, our first youth Ambassador, was interviewed about what it's like to live with Progeria and other questions. You can find this information on our web site for PRF Spokespeople and at John Tacket Interview.
Source: www.progeriaresearch.org
What are the features of Progeria?
Although they are born looking healthy, children with Progeria begin to display many characteristics of accelerated aging at around 18-24 months of age. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis,
cardiovascular (heart) disease and stroke. The children have a remarkably similar appearance, despite differing ethnic backgrounds. ...
Source: www.progeriaresearch.org
How is Progeria diagnosed?
Now that the gene mutation has been identified, The Progeria Research Foundation has created a Diagnostics Testing Program. We can now look at the specific genetic change, or mutation, in the Progeria gene that leads to HGPS. After an initial clinical evaluation (looking at the child’s appearance and medical records), a sample of the child’s blood will be tested for the Progeria gene. For the first time ever, there is a definitive, scientific way to diagnose the children. ...
Source: www.progeriaresearch.org
How common is Progeria?
Progeria has a reported incidence of about 1 in 4 - 8 million newborns. It affects both sexes equally and all races. In the past 15 years, children with Progeria have been reported all over the world, including in Algeria, Argentina, Australia, Austria, Canada, China, Cuba, England, France, Germany, Israel, Italy, Mexico, the Netherlands, Poland, Puerto Rico, South Africa, South America, South Korea, Switzerland, Turkey, the US, Venezuela, Vietnam and Yugoslavia.
Source: www.progeriaresearch.org
What issues do you think are most important in the care of a patient with Progeria?
Most of all, it is important to remember that all children with Progeria have age appropriate intellect and personality. An eight-year-old with Progeria will think and act just like every other eight-year-old. Children with Progeria are smart and funny and full of life. It's the bodies of these children that are laden with the genetic predisposition toward conditions of aging and heart disease, not their minds. ...
Source: www.progeriaresearch.org
Do the children participate in school activities, or are they limited because they have Progeria?
Children with Progeria are able to participate in all the same educational programs and sports activities as other children. With the exception of having Progeria, these children are just like every other child. Most have no special capacities or limitations other than those that their shorter stature and perhaps stiff joints cause for some activities.
Source: www.progeriaresearch.org
What would you like people to know about Progeria now?
While Progeria is an extremely rare disease - known to currently affect only 42 children worldwide -all children with Progeria die of severe premature atherosclerosis (heart disease). When you help children with Progeria, you are helping to save the lives of children with a 100% fatal disease. ...
Source: www.progeriaresearch.org
Why do children with Progeria age in body so rapidly and not in mind?
LMNA is not expressed by the brain cells, so the gene mutation does not affect the brain.
Source: www.progeriaresearch.org
What does Progeria have to do with aging?
Children with Progeria are genetically predisposed to premature, progressive heart disease. Death occurs almost exclusively due to widespread heart disease, one of the leading causes of death worldwide. + As with any person suffering from heart disease, the common events for Progeria children are high blood pressure, strokes, angina (chest pain due to poor blood flow to the heart itself), enlarged heart, and heart failure, all conditions associated with aging. ...
Source: www.progeriaresearch.org
Is it contagious? Can I get progeria by being near someone who has the disease?
Progeroid syndromes are genetic, and cannot be passed on to another person by proximity, touching, sharing fluids, etc. The only way to get progeria is to be born with one of the genetic mutations that cause the disease.
Source: courses.cit.cornell.edu
What is PRF doing to help children with Progeria?
The Progeria Research Foundation funds medical research aimed at developing treatments and a cure for Progeria. PRF also has its own Cell & Tissue Bank that provides the biological materials researchers need to conduct their experiments. The PRF Cell & Tissue Bank was instrumental in the recent discovery of the Progeria gene. Cell lines from the PRF Cell Bank were essential to the experiments that led to the Progeria gene discovery. ...
Source: www.progeriaresearch.org
Is Progeria passed down from parent to child?
HGPS is not usually passed down in families. The gene change is almost always a chance occurrence that is extremely rare. Children with other types of “progeroid” syndromes which are not HGPS may have diseases that are passed down in families. However, HGPS is a “sporadic autosomal dominant” mutation. This means that, for a family with one child with HGPS, non-twin siblings have the same chance of having HGPS as any other child in any other family – approximately one in 4-8 million. ...
Source: www.progeriaresearch.org
I heard that the Progeria gene had been discovered, where can I find out more about this?
On April 16, 2003, it was announced that the gene for Progeria had been discovered, and PRF played a major role in that discovery! Go to Progeria Gene Discovered for more information. Also, here are some cites to scientific articles on the gene mutation: "Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford Progeria Syndrome", Vol. 423, May 15, 2003, Nature. "Mutation causes early-aging syndrome", Vol. 163, p.260, April 26, 2003, Science News. ...
Source: www.progeriaresearch.org
I would like to study Progeria for a career, what courses of study do you suggest I take?
Wow - that's terrific! Depending on where you are in your education, this answer varies. We suggest that you consult with your guidance or career counselor at school for the best course of action. Back to Top 19. I'd like to be a pen pal to a child with Progeria or send them a present. Your idea of wanting to become pen-pals is really great, but all contact information for the families and the children is confidential, so we wouldn't be able to give you their names and email addresses. ...
Source: www.progeriaresearch.org
I saw a movie with a kid who aged more quickly than normal. Was that progeria?
The movie Jack featured Robin Williams playing a boy who aged at four times the normal rate. While this is the general idea of progeroid diseases, Jack lacked all the other symptoms which characterize most progeria, such as short stature, bird-like facial features, etc. The disease that Jack had is fictional, and resembles true progeroid syndromes only superficially. ...
Source: courses.cit.cornell.edu
I'd like to volunteer to work with the children. Do you have a camp that you run, or is there a hospital that I can contact regarding working with children with Progeria?
We do not have programs where we have direct contact with the children in the way that you are thinking of. The children are located all over the world, and so our contact with the families is almost exclusively through email, phone and postal mail. There is no "camp" or other social meeting we are involved in that brings them together where you might have an opportunity to work with the children. But we can always use another volunteer on our team! Go to the Other Ways to Help section for more information.
Source: www.progeriaresearch.org
