It will be 5 weeks tomorrow since the death of our precious 15 month old daughter Sophia Noel. She died suddenly from pneumonoccal sepsis as a result of congenital asplenia, which means she was born without a functional spleen.
There are many reasons I decided to start this blog, one as a personal journal as we try to deal with this and resume a normal life (whatever that means), also in hopes that someone with some knowledge of asplenia will will reach out to us with information, and finally as a place where other parents who have been through this horrible nightmare can find a place to connect.
Sophie died on Friday morning, April 27th, 2007. I won't go into the details, but it was horrific, she had a wonderful day at daycare on the 26th and was fine when we put her to bed at about 7:00, she awoke crying and vomiting with a fever of 105 about 9:15 p.m. and we took her to the emergency room where they did a chest x-ray to check for pneumonia and a urine test to make sure it wasn't a kidney infection. They gave her some Tylenol and sent us home. I last saw her about 2:30 a.m. and in the morning she was gone.
We were in total shock. We found out the next day that she did not have a spleen. Apparently most children who are born with out a spleen (congenital asplenia) also have a congenital heart defect or some other type of syndrome that would lead the doctors to check for a spleen, but Sophie was completely healthy in that regard. To be honest I had no real idea of the purpose of the spleen before this happened and it didn't make sense to me at first because I know people have their spleens out all the time. But apparently in small children it serves a very important function and without one they are unable to fight off certain types of bacterial infections, especially encapsulated bacteria (http://www.answers.com/topic/asplenia) There is so much they can do to prevent overwhelming sepsis if they know a child doesn't have a spleen, but it is not common for doctors to check and without knowing she had no chance.
Most of the information available on the Internet is academic in nature, and although we and our families are fairly well educated, it is tough to get a sense of how common this is. I've heard 1 in 15,000 children and if this is the case I would advocate strongly for a post birth check of all children through a simple blood test. The State of Colorado requires several blood tests for syndromes less common than this. At the very least I hope to make more parents aware of the condition so they can ask or even demand the blood test. Insurance likely won't pay because the risk is so small, but given the option of saving your child's life, many parents would be willing to shell out the $75 for the test, I would imagine. Sophia had 4 doses of the Pneumococcus vaccine as recommended and it didn't make a difference for her.
We are also trying hard to get a sense of the genetic implications, and here there is really no information. We have found out through ultrasound that our three-year old has two spleens. Although we have been assured this is a "normal variant" with 17% of the population apparently lugging around an additional spleen, we are still pretty nervous and awaiting the results of some blood work to confirm that she is safe. What are the chances that both our children would have spleen abnormalities, if it is genetic how can we find out?, what does it mean for our other child's future?
I hope to post every day and let folks know what we are finding out and how we are doing.
