Awareness for Progeria

Tuesday, December 13, 2011

Written Interview with John Tacket

http://www.progeriaresearch.org/interview_with_john_tacket.html

This link will take you to the Progeria Research Foundation page where they conducted a written interview with John. When asked if there was anything John would like other kids to know about children with Progeria he states that,
"We're no different; we do the same things other kids do. Don't be afraid to talk to us."
Just as other people don't like to be stared at, kids with Progeria don't like it either.
This is a great source to relate to, as well as the other videos on this website if you or your child is dealing with too much negative attention.

Sunday, December 11, 2011

Compilation of Children with Progeria and Specializes on Leon Botha

Leon Botha was one of the longest known survivors of Progeria; he died one day after his 26th birthday. This is twice the average lifespan of a person with Progeria. Botha was an extremely talented artist as well as a musical performer.

Thursday, December 8, 2011

Hayley's Page

Hayley Okines is one of the children in the world diagnosed with Progeria. Her webpage ( http://hayleyspage.com ) has a lot of additional information on how Hayley's family copes with Progeria and how it affects Hayley and their family.

About

Causes

~A mutation in the gene LMNA (Lamin A)

~Lamin A is found in the cell nucleus and helps maintain the function and shape of the cell

*Gene produces abnormal Lamin A protein called Progerin; a build up of progerin causes cellular instability and leads to premature aging

**Only 68 children in the world are reported to have Progeria; these children are scattered throughout the world in many different countries

*Effects both sexes and races

* Not common to be passed down in families

Aging Factor

~Genetically predisposed to premature heart disease

~Atherosclerosis involves deposits of fatty substances in the inner lining of an artery

-Other complications associated with atherosclerosis:

*High blood pressure

*Strokes

*Angina (chest pain)

*Enlarged heart

*Heart failure

Diagnostic Measures

~Progeria Research Foundation's Diagnostic Testing Program

*Initial clinical evaluation of child

*Blood sample from child to test for mutation in LMNA gene

Support

~Progeria Research Foundation

*Funds medical research aimed at developing treatments and eventually a cure for Progeria

*Has its own Cell & Tissue bank

*Scientists from PRF's Genetics Consortium were able to isolate the Progeria gene in October 2002

*Medical & Research Database for physicians & family

*Cardiac care

*Nutrition

*Other medical issues related to the disease

*Progeria Handbook

*Basic health facts

*Daily care recommendations

*Extensive treatment guidelines

*Clincial drug trials