What is progeria?
Progeria is also known as Hutchinson-Gilford syndrome. It is a genetic disease with symptoms resembling early ageing in humans. It is a very rare condition and it is believed that it will affect around one in eight million births. Unfortunately, there is no cure but progress is being made in understanding it.
Causes of progeria
Progeria is caused by a mutation of the LMNA gene. Most people with progeria will not live beyond their early teens, (although some have lived into their twenties) due to the effects of the ageing process on the body. It can be first diagnosed during infancy and can be most evident at around 18 months. Physical characteristics of progeria include having a smaller face, pinched nose and smaller jaw. As the patient grows, they will develop other problems including kidney failure, cardiovascular problems, loss of hair and eyesight.
Progeria in the world
At the moment there are 92 known children around the world, in 33 different countries, with progeria. The progeria research foundation was started in 1998 when a child called Sam was born and diagnosed with the condition. Both his parents were doctors and realised the lack of knowledge of progeria and started the research foundation.
Diagnosis of progeria
Because of them, much more is know known about the condition and there have been major breakthroughs into it. The foundation, along with the National Institute of Health, discovered that progeria was due to the mutation of the LMNA gene. They also came up with a test to diagnose the condition, and due to this there are less misdiagnosis and measures can be taken earlier to improve quality of life.
Although progeria is a serious problem with no cure, there is plenty of help and support available for sufferers of progeria and their families. It may be a while away before a cure or treatments are found, but in the last 14 years the Progeria Research Foundation has achieved so much already.