By: Jacky Monrroy

And Monica Barragan

What do you know about genetic disorders in general?We know that it is a disorder that is caused by a change in a gene, that causes “premature aging.” What do you want to find out about this disease?We want to know how long the child lives with this disorder, the child’s lifestyle, and if the disorder has a cure.

Progeria is a rare, fatal genetic disorder that is characterized by an appearance of accelerated aging in children.About 1 in 4-8 million newborns are affected.Affects both sexes equally throughout the world.

The children are usually born looking healthy, but symptoms begin to display around the age of 2. (18-24 months.)

What is the type of disorder- gene or chromosomal? Is it dominant or recessive?

It is a dominant gene disorder.

What other names or abbreviations are used for the disorder?

Hutchinson-Gilford Progeria Syndrome is another name. (HGPS)

What different tests could have been provided to the parent to have found out about this disorder before its birth?

Genetic testing could have been done. This would have helped the parents to see earlier that their child was sick. The child could have been treated earlier.

What are the signs and symptons of the disorder, including a description of how it affects the human body?Symptoms include:Early aging of the bodySlow growthPoor weight gainLoss of body fatWrinkled skinLoss of hair (includes eyebrows and eyelashes)Stiffness of joints (joint abnormalities)Abnormal TeethPremature eruption of adult teethHip dislocationHead that is too large for face(Symptoms don’t usually start to appear until child is 2 years old )

What kind of lifestyle will your child live?Most children affected with progeria have to be tube-fed, given dietary treatments and supplements to help reduce the loss of weight, and aspirin to prevent heart attacks and strokes. How long will your child live?Children that are treated can live until they are 21, but can die as early as age 8. Children that are not treated can die earlier than age 8 or can live until ages 13 or 14.

Will your child be able to have children? Will they be affected with the disorder?No, they cannot have children, since most of them die at an early age. If they were to have children it is not likely for their child to have progeria, since the disorder doesn’t normally run in families. What is the probability that your next child will be affected with progeria?Progeria is not usually passed down in families. The gene change is a sporadic mutation.

Prenatal testing for progeria is possible using amniocentesis. However, because the disease is not passed down genetically and is extremely rare, there would be little reason to perform this testing.