Sunday, March 13, 2011

Sources for Progeria blog

Carey, Meghan. "Genetic Counseling." http://www.ornl.gvo/. 29 September, 2008. 3 March 2011. www.ornl.gov/hgmis.
"Genetic Clinics and Counseling." genetics.emory.edu. Emory University.2009.13 March 2011. <genetics.emory.edu>.
Friend, Lucy."Genetic Counselor Job Description."www.ehow.com.2011. 13 March 2011.<ehow.com>.
"Hutchinson-Gilford Progeria Syndrome." ghr.nlm.nih.gov. 2007. 13 March 2011. <ghr.nlm.nih.gov>.
"Progeria/101 faq" http://www.progeriaresearch.org/. Progeria Research Foundation. 2011. 13 March 2011. <progeriaresearch.org>.
Gartley, Sean. "Progeria" seangartley.blogspot.com. 2009. 13 March 2011. <seangartley.blogspot.com>.
"Progeria." http://www.wrongdiagnosis.com/. 26 January 2011. 13 March 2011. <http://www.wrongdiagnosis.com/>.
"Progeria." heatlh.nytimes.com Englert-Handleman, Chad. 26 August 2009. 13 March 2011. <health.nytimes.com>.
"What is the life expentacy of a progeria patient." http://www.dermetnz.org/. 15 June 2009. 13 March 2011. <http://www.dermentnz.org/>.

Thursday, March 10, 2011

How possible is it to find a cure for progeria?

There is are no cures currently. Though,  The National Human Genome Research Institute in Maryland may have found a drug that can reverse the effects of heart disease caused by progeria.

What are some organizations that help a family cope with progeria?

progeriaresearch.org
Progeria.be
geneticalliance.org
rarediseases.org
www.madisonsfoundation.org

What limitiations does a person have with progeria?

A child with progeria does not have many limitations expect stiff joints. They can participate freely in any activity like everyone else.

What is life like with progeria?

People with progeria live one day at a time because they only live for a very short time. They have the mind of a young child, but their body acts as if it is around the age of 70 to 80 years old. They have trouble walking and have stiff joints which causes day to day activities to be more strenuous and demanding.

How can progeria be treated?

There is no way to prevent progeria, there are no treatments to cure progeria as well. Though, regular medical care and certain treatments may help to reduce some symptoms and slow progression of the disease. Treatment plans are individualized and may include physical therapy occupational therapy to minimize joint stiffness and improve activity and mobility. Dietary treatments may include tube feeding for infants and supplements to help reduce weight loss. Surgical procedures may be recommended in some children with progeria. These include pulling out the baby teeth so that prematurely erupting adult teeth have enough room to develop. Artery bypass surgery or angioplasty may also be recommended to slow the development of cardiovascular disease.

What is the life expentacy of someone with progeria?

The average life expentacy for people with progeria is 13 years.

What are the physical symptoms of the disease?

The physical symptoms for progeria are as follows.

Symptoms

·Growth failure during the first year of life
·Narrow, shrunken or wrinkled face
·Baldness
·Loss of eyebrows and eyelashes
·Short stature
·Large head for size of face
·Open soft spot
·Small jaw
·Dry, scaly, thin skin
·Limited range of motion
·Teeth - delayed or absent formation

How is the disease diagnosed?

There are no specific tests for Progeria. Doctors can confirm the disease by looking for symptoms and signs, for example hair loss and failure to grow. Though, the symptoms are not prevalent until the age of 2. However, genetic testing can be used to find LMNA mutations at the first appearance of the symptoms.

What are the chances of a person with progeria passing the disease to their offspring?

People with progeria cannot produce sex hormones and do not live long enough to have children. Due to this, the disease is unable to be passed along.

How prevelent is progeria in the population?

Progeria has a reported incidence of about 1 in 4 - 8 million newborns. It affects both sexes equally and all races.

What are the possible gentoypes for parents whose daugther or son may have progeria?

Since progeria is autosomal dominant and is genetic, then the genotypes must be heterozygous dominant or homozygous dominant in order to have progeria.

How does a person inherit progeria?

Progeria is considered an autosomal dominant condition. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family.

What is a Genetic Counselor?


A health professional with a specialized graduate degree and experience in the areas of medical genetics and counseling. Genetic counselors have a minimum of a master's degree in genetic counseling or a related field. A genetic counseling degree includes extensive training in both human genetics as well as psychology. Many genetic counselors are board-certified by the American Board of Genetic Counseling. Job details include working with families to help understand and adapt to genetic disorders including interpreting information, analyzing inheritance patterns and risks, education and suggesting available options. The average salary for a genetic counselor is $62,000 per year.