Hutchinson-Gilford Progeria Syndrome, which we call progeria for short, is a very rare syndrome that is found in children. Those afflicted with this disease are characterized by physical signs and symptoms that make them seem to be older than they really are. There are some different forms of this fatal genetic disorder, but all of them together make up the statistics of progeria.
Progeria Statistics to Consider
1. Only 1 out of every 8 million people will get this disease.
2. For every one year that a child lives with progeria, it is the equivalent of living 10 years for the average “normal” human.
3. Progeria affects boys and girls equally and can be found on almost every continent today. Only Australia does not have any known progeria cases as of 2010.
4. Children with progeria tend to have eyes that are very prominent and a thin nose with a beak-like appearance to it.
5. A smaller chin and protruding ears are also common attributes in children diagnosed with progeria.
6. There are about 80 known cases of progeria worldwide right now.
7. Although progeria is a genetic disorder, it is not usually passed down in families since it is a specific mutation. Only 1:400 million live births is familial progeria passed to a child.
8. Progreria is considered to be an autosomal dominant condition.
9. The number of cases of progeria that have been recorded since the condition was first described in 1886: around 250.
10. Research into progeria is difficult. There are only 193 cell and tissue lines banked for scientists to study.
11. It is 100% fatal.
12. Because of the rarity of the disease, research into progeria did not even begin until the 1990s.
13. A genetic test for Hutchinson-Gilford progeria syndrome is currently available.
14. Researchers are examining over 600 centenarians, or people who are at least 100 years old, to see if there is something in their gene sequences that can help to promote life longevity.
15. No family has ever had two children from the same biological parents both be diagnosed with progeria.
16. The first sign of progeria is scleroderma which is a skin condition which indicates incapacity to thrive.
17. Progeria does not affect the normal motor and mental development of children.
18. The usual test for this condition is a genetic test that verifies LMNA Mutation which will affirm the condition.
Signs and Symptoms
Children with progeria are born looking like all other healthy children. They begin to display the signs and symptoms of this disorder around the 18 month mark. Some children may not show any symptoms until they have reached their second birthday. The onset of progeria can be rapid and fast, giving the child signs of accelerated aging. This occurs because there is a mutation in the gene that is called LMNA. The mutation causes a protein to be produced that makes the nucleus of cells become unstable. The end result is that premature aging begins to occur.
Children who suffer from progeria have the same health issues that the elderly population faces today. Stiffness in their joints, hip dislocations, heart disease, and an inability to grow or put on weight are common issues that children with this disorder face. Most children who are diagnosed with progeria will pass away from heart disease at an average age of 14.
Right now, nothing can be done to cure progeria. The symptoms of this disorder can be treated to help children become more comfortable, but a diagnosis is currently a death sentence. By being aware of the statistics of progeria, we can work together to research and fund a potential cure in the future.
Understanding Progeria
Progeria is a tough diagnosis for a parent to receive. It means that they will likely outlive their child and that goes against the cycle of life as we know it to be.
Thankfully there are some treatment options that may be on the horizon that can prolong the lives of children in meaningful ways when they have progeria. Growth hormone treatments, anti-cancer drugs, and pravastatin, which helps to lower cholesterol levels and treat heart disease, have all helped to prolong the aging process and give today’s children a few extra years of life. Even so, most kids with progeria will be unlikely to reach the age of 20.
It is easy to treat children with progeria as being “different” or even “fragile” but they are not. A 5 year old who has progeria is going to want to do all of the same things that any other 5 year old will want to do. With news that the drug lonafarnib may also be effective in treating this disorder, even more hope is on the horizon. Every child who took lonafarnib in 2012 research showed improvement in either weight gain, better hearing, improved bone structure, or blood vessel flexibility. Some showed improvement in multiple categories.
The biggest breakthrough of all is that researchers have been able to connect the normal aging process to progeria. This means that not only can other valuable insights be obtained in other rare disorders, but it shows signs for hope in the future of treating this disease. An unintended, but potentially beneficial outcome, may also be that we can extend human lifespans even further by understanding more about how the aging process works thanks to the research that has occurred into progeria.
The eventual goal isn’t to get children with progeria to their 20th birthday. It’s to get them to their 80th birthday or beyond so that they receive the chance to live a happy and full life just like anyone else. This was the initial goal when research was pushed strongly in 1999 and continues to be the emphasis of research today. With successful treatment options now more available than ever before and new, promising research in clinical trials as of 2014, hopefully progeria doesn’t have to be a death sentence very soon.