Tuesday, May 18, 2010

Looking for more answers vs. reassurance

A week ago, Mark and I had an appointment to see the genetic counselor. This individual works with the geneticist who saw Karissa a few months before she died. Anyways, the reason for this appointment was because I am considered advanced maternal age. Nice huh? Oh, and I am 35, just in case you were wondering how old I really am.

So, we get to the appointment and the counselor starts by asking us to tell her about our family history, previous pregnancies, children, ect. How did I start the conversation? Of course by telling her that our daughter died of epilepsy. I informed her that she had seen the geneticist who ran every genetic and metabolic test possible. That he had tested for syndromes that are characterized by seizures and developmental delay, such as angelmans syndrome and fragile X, two syndromes for which Karissa had displayed some characteristics. That he was unable to find anything to explain her severe global developmental delay and why she was starting to show signs of regression.

The counselor proceeded to bring up Karissa's chart and noted that everything was normal. Every test that was done from birth to the day she died was normal. A chromosome study was also done and Karissa had the correct number of chromosomes. They even looked at the tips of every single chromosome, called telomeres, and these were also normal. There was, however, a test that was done when Karissa was 2 weeks old that came up abnormal but when it was re-checked a year later, it was normal. Up until our appointment on Monday, I was never made aware that the test was re-checked and that is was normal. Kinda wished I had known, as it would have eased my mind of all the 'what-ifs' that went through my mind (and still do) following Karissa's death.

Karissa had elevated levels of 3-hydroxyisovalericacid which is associated with defects in biotin (a B-complex vitamin) metabolism. I remember the day the neurologist went over the results of that specific test with me. He said something like "her lab value is slightly elevated but it is nothing to worry about. Infants that have abnormal (elevated) lab values don't end up living very long and her lab value is close to the normal value. I am not worried." And that was it. Thanks.

So of course, you can understand when I tell you that after she died, that was all I kept thinking about. Was that how she died? Did the lab value progressively get worse? Did it increase even more? And the worst thought of all...could we have corrected it thereby preventing her death? The answer, according to my research, was probably so. Almost 2 years later, I can now put that thought to rest. I know that is not why she died.

I was going into this appointment with the understanding that we would be informed of all our options for prenatal screening: CVS, amnio, ect... We declined each one, not wanting to risk anything to our unborn babies. Besides, it would not in any way change our decision to have our baby/babies if something was wrong. What I didn't expect was to delve into Karissa's medical history. As hard as it was, I am glad we did. I was always looking for an answer to why Karissa died. Yes, she had a seizure that was so bad it took her life, but what else? What else caused her to regress in almost all areas of development.

After spending almost half of the appointment talking about Karissa, the counselor said that it is very unlikely that our babies will be sick like Karissa. She said that there is a 25% chance that one or both babies could have epilepsy, IF the epilepsy is genetic, which, as far as we know, is NOT! She even went as far to say that she feels as if both babies will be fine. Only time will tell. But at least I got some reassurance from that appointment. I am thankful.

1 comment:

  1. I know this had to be so reassuring and encouraging. I'm so glad for you. I know it's been a while since we've connected....I'm excited for you and praying for you guys. God is so good.