Mom and I were gone all day, but God provided safety in our travels to our Little Rock appointment today. Thanks for all the prayers concerning this. Emma had trouble right when we left and right when we headed back, but both resolved without any spells. She didn’t get as much to eat today because I made the decision not to feed her in the car as she often throws it back up, but she stayed fairly happy. She slept most of the way.
As for our appointment, it went really well. But before I go into that I have even better news. They were able to reschedule her pulmonary (lung) appointment this coming Tuesday! After hearing that she was having trouble they agreed that she shouldn’t have to wait till March to come in. So even though I have to drive there again next week I am really excited.
Here is the results from our genetics visit. Her geneticist is actually very interesting to talk to. He has a lot of information that seems rather trivial, but it actually helps them to determine Emma’s genetics. Mom and I learned several new things today. He pointed out many of the same things that he had before-Emma’s differently shaped ears, her odd toes, her creases in her hands and feet, etc. He also looked at the hair whorls on her head. He said that hair whorls are formed in the womb as the brain grows and stretches the scalp. If you have an odd number or they are in odd places that can signify some differences in brain development. Emma has a whorl on her forehead and two on the back of her head. She also has odd shaped eyebrows that he was really intersted in. Now, all of these things, including Emma’s heart/vein abnormalities, can be random and not due to an underlying problem. But because Emma has so many and then connecting these small things with her health issues makes him feel strongly that she does have an underlying genetic issue. Unfortunately, they can not promise that they will be able to find what it is. We are going to have another test done that tests the chromosomes differently. The first test they did actually looked at the chromosomes through a microscope. Thus it only shows large abnormalities and doesn’t show all of the chromosomes well. This next test they are doing uses flourescent probes to attach to the chromosomes. When a probe doesn’t attach where it should then it will signify that something is missing. Though this test can show even smaller genetic problems, it may miss some as well. So, if that test shows nothing then we will do a skin test that sometimes catches things the blood tests don’t.
There are two reasons that we would like to have a diagnosis in this area. One is that if they knew the diagnosis they can compare Emma’s case to others like it and perhaps have more information to help in her treatment. The second reason is that it would give us a better idea how likely any other children we might have would have the same problems. At this point the number they are giving us is that we would have a 5% chance of having another child with the same problems. But, this actually means that we could have as high as a 50% chance or as low as a 0% chance. She could have a genetic mutation that just randomly happened during development, which has no bearing on future children. Or she could have something John and I gave her. It would be nice to have a diagnosis through this next test, but I imagine it takes awhile to be processed. (P.S. We are not in a hurry for the second reason, more for the first. Just making sure I am not putting ideas into anyone’s heads.)