Hutchinson-Gilford Progeria Syndrome (HGPS)
What is Progeria Syndrome?
Hutchinson-Gilford Progeria Syndrome or (HGPS) is a genetic condition that manifests itself in children as rapid aging.
Causes,Risks and Diagnostics
The birth defect is caused by a mutation at the time of conception.Since only about 1 in 4-8 million children are diagnosed with Progeria Syndrome they rarely test for it unless the patient shows the symptoms of having the syndrome.Children with Progeria do not begin showing the symptoms until around 18-24 months.If they do however test for the syndrome, they will do so after birth through amniocentesis.The average lifespan is 13-20 years of age.The child throughout the lifespan of the child they will have to face physical and mental breakdowns as if they were old,like softer bones, losing of sight and sound and many internal illnesses.
There has been a treatment for Progeria that has been discovered in 2012 that has been effective called Lonafarnib, a clinical drug that has been used originally to treat cancer.It has improved the health of children with Progeria in four ways: gaining weight, better hearing, improved bone structure, and increased flexibility of blood vessels.Since it is only a treatment it can only help the patient with a few things not cure them completely.