Today, we had Cara's much anticipation (or dreaded) genetic counseling appointment at Children's. Let me just preface this by saying that we chose the coldest day of the year for this appointment. It was a whole -6 degrees when we got there!
Anyway, we arrived on time, went through intake where we found out that Cara is just shy of 28#, a tad under 3 ft tall and that her head circumference has gone down some. All good news.
We met with a counselor who went over our family history, very thoroughly. I so wish I would've thought to bring Cara's baby books so I knew exactly when she accomplished milestones. We had to list relatives going back to grandparents, on both sides, and then any conditions that they had. I have decided that we need to have a written record of this, so that I don't have to call my mother in a panic to remember what so-and-so died of.
After the consultation, we met with an actual geneticist who examined Cara, looked over her cafe-au-lait spots (CALS) and asked us some more questions about Cara's development and neurological profile (MRIs, etc). Upon examination, she didn't believe that Cara showed the physical signs of neurofibromatosis (NF1). Cara does have several CALS, but they are not of the right shape or size to be definite signs of NF1. That being said, there are many other neurological disorders that can account for the CALS. It seems pretty certain that Cara does, indeed, have some neurological condition and now, we start the process of elimination.
Cara was sent to the outpatient lab to have some blood drawn for the various tests that are sure to follow. They took extra vials so some cane be stored for further testing, saving Cara from having to be poked again. The first test to be done is called a chromosome study in which the lab will examine Cara's DNA to check for malformations of her DNA--matching chromosomal structure to a template. Any mutation will also be spotted, pointing the way to one specific disorder or another (including NF1, which is a gene mutation). The results of this study will determine any further testing that may need to be done. That being said, we are at the beginning of a very long process, for sure.
Right now, we are just relieved to know that Cara, most likely, does not have NF1 and from the sounds of things, the other diseases that were discussed aren't as severe. We shall see though, as we continue on the quest to get answers. We are hoping to have results from this first study before Christmas or shortly after. As always, I will keep everyone posted.