Friday, December 09, 2005


Genetics. Just the word gives me the chills. I think it is because anything wrong genetically, cannot be fixed. Back when Jenelle was 6 months old, we had our first genetic test done, which was a basic chromosome panel and FISH test to determine if she had a chromosomal defect and/or Praeder Willi Syndrome. Both results were normal, and the Neurologist at the time told me her chromosomes were prefect with no noticeable defects. I’ve never worried about a possible genetic problem since, until I learned that the basic chromosome panel barely touches the surface of all the possible genes they could test. And then in August when UCLA called to inform me that one of her test results came back abnormal, I began to worry again. They haven’t told me much since, except that they were going to have their genetic doctor review her file (which is undoubtedly huge!)

Last night there was a message on our phone from the Genetic Department at UCLA. They want us to come in for an appointment, so I called today and we are scheduled for January 30, 2006, which surprisingly is pretty quick. They actually had something on January 9, but I’m busy that week with work. When I made the appointment, I asked the nurse if she knew anything about what we were looking at, and she said, “We’ll discuss all of that when you come.” And later in the short conversation, she told me to expect the appointment to take at least an hour or more.

I realize there is absolutely nothing we can do to fix any genetic flaw in Jenelle, but a lot of this reminds me of that movie Gataca. Science is advancing at such a rapid pace, we are learning more and more each day about new conditions, and in rare cases new cures. But really, how perfect can the human body get? Even if they have now discovered a genetic flaw in Jenelle that may even give us a diagnosis that we never thought we’d know, is it really going to make a difference in who she is? That my friend is the needle in the haystack. The glimmer of hope that we find the one small thing that can be corrected and give us the miracle we’ve dreamed of having. I doubt that will happen, but I do think we will get some answers, and maybe some realistic idea about whether or not we should have a third child.

A friend from work lost her newborn child this week to a condition so rare that it happens in only 1 of 3,000 pregnancies. When you think about it, I’m sure we’ll never have a child like Jenelle again – her problems are so unique, it would be hard to duplicate. But that doesn’t mean that my age, or my autoimmune disease aren’t factors to consider in thinking that we could have a child with a different problem. A Downs baby or the rare instance of a child with cancer, heart defects. Perhaps there comes a time in life when you accept what you have, and not risk further struggles and heartbreak. I supposed we’ll know more that will help us make that decision in January.

1 comment:

Sheri & SuZan said...

I don't know how you are doing it. The wait would be driving me crazy, especially since no one is spilling any beans.

I know it is such a tough call, have another child or not. Your right when you say you probably would not have the risk. I have been totally floored in the schools of how many of my special needs children are siblings. So it does happen.

Good luck with your meeting in January. I hope you can share but we understand if you can't.