My daughter, Adalia, is truly one in a million. Her wonderful spirit is as rare as the terrible disease she’s been diagnosed with. Many of you may already know that Adalia has Progeria, a rare genetic disease that rapidly increases the aging process in young children. Though she acts every bit like a happy 5-year-old, Progeria is something Adalia battles every day.
Before Adalia was diagnosed, I had no idea what Progeria was. So I did what every concerned and scared parent would do. I went on a fact-finding spree. In addition to the information I received from the doctors, I read articles, blogs, books, science and medical journals … anything that had the word “Progeria” in it. What I found addressed some of my fears, and even enlightened me to some things I would have never guessed. Most importantly, it helped me understand what my child was going through, and helped me cope with this sudden and unexpected change. Now, I must warn you, some of the language can get very technical, but I’ll try to make it as easy to understand as possible. I hope this gives you a better understanding of Progeria.
I’m sure you’ve heard that Progeria is rare, but just how rare is it? Progeria affects 1 in every 4-8 million children. Currently, there are 92 children in 33 different countries that have been diagnosed with Progeria. This disease is not hereditary. So, despite the slim odds, Progeria could still happen to any child.
Named after the first two doctors who described the disease in the late 19thcentury, Progeria’s official name is Hutchinson–Gilford Progeria Syndrome. The two doctors described exactly what Adalia is going through: failure to develop, loss of hair, wrinkled skin and weakening eyesight. Children who have Progeria also have distinctive features, typically a small face and jaw with a pinched nose. Though the cranium of a child with Progeria may look big, it’s actually normal-sized. The small face gives off the illusion that the cranium is larger than normal.
One of my burning questions was “how do you get Progeria?” The answer lies in the small, microscopic processes that take place within our bodies. Everyone has a gene called LMNA. This LMNA gene produces a protein that holds the center (nucleus) of a cell together. When this very small, yet very important process doesn’t go according to plan, a mutation within the gene occurs. This is what causes Progeria. This is the difference between Adalia and any other normal five-year-old.
Though the effects may show themselves on the outside, on the inside there is a much different story. Not only does the disease not affect a child’s intelligence, but the intelligence among those with Progeria tends to be higher than normal. There is also no effect on the central nervous system. Their voice still sounds like a child’s, and their dispositions are like that of any other normal kid their age.
Progeria does not define Adalia, but if Adalia can help redefine Progeria by opening people’s eyes to what this disease really is, then I feel like we’ve done a good thing.
I hope to write more blogs similar to this. There is a world of information out there, and doctors and researchers are constantly making new and exciting strides in understanding, and ultimately curing, this disease.