Just wait....

Yesterday Brooklynn had her genetics labs drawn. Now it's just a waiting game. Wait first to see if insurance will cover it. Then if they do, wait and see what the results say. Some of the testing takes 4-6 weeks, some of it takes 8 weeks. So now I get a little taste of how the parents where I work feel waiting to get test results back. I am not going to stress about it...too much. Just have to try to relax and allow myself to have at least 1-2 more months where we can be oblivious to anything that might be wrong. If you know me very well, you know I am not very patient and I am a worry wart, so we will see how these next few months go with that concept!

Brooklynn's First Steps and Genetics Appointments

So as some are aware, speech therapy through my insurance is not covered, so in order to make sure that Brooklynn gets the services she needs, so that she continues to improve on her language development, we have been referred on to First Steps. We had our first session with filling out paperwork, and not 100% she will get approved to have these services in the home, but we will be doing an assessment in a few weeks to see where she is at. They feel like due to her diagnosis of macrocephaly alone we could probably get something, it's just a matter of how much and what type of services. We really don't feel like she would need much (we being her dad and I) but just a couple of times a month having someone come and look at her and help us figure out ways to foster her language development. She is starting to expand her vocabulary over this last month (I bet she says 50 words or so), but she still doesn't say many words very clearly (she is making great improvements every day though). We ended up getting a phone call Wednesday, saying that Genetics had an available appointment for Thursday morning, either that or we wait until September. I jumped on yesterdays appointment, so we were able to meet with Dr. A. It was a very insightful appointment, not quite sure how to take it right now. She took a look at Brooklynn, examined her spots. She felt that Brooklynn's spots were so faint, and were all irregular borders, and she says with Neurofibromatosis (the disease dermatology and ophthalmology were looking for), the spots are usually darker and have defined borders. They took more of a family history (including cancers, thyroid issues, polyp history). They also measured her again. Her head has stayed consistent for us, but continues to grow from last years' appointment - she is 22.5 cm, her weight is 36 lbs, 6 oz, and her height is 31 inches. Her head continues to shoot off the charts. Her weight and height is above the 95%. She explained there are different degrees of macrocephaly (or large head). There is relative, and than there is severe. She feels like Brooklynn's fits more in the severe category (she said to not get freaked out about the term - it just means she is definitely larger than the norm). She says she looks pretty proportional though due to her height and weight. The Counselor kept commenting she keeps thinking Brooklynn needs to be older (she thought she looked more like a 3 year old than a 2 year old). So while she doesn't think we need to really be worried about neurofibromatosis, she says due to the history of cancer in the family, and her head size, the spots on her skin, and her mild speech delay, she wants us to get her chromosomes drawn. Chromosomes are the genes that make us who we are to all the non medical people. There are 3 different testing they can do on our chromosomes. Dr. A explained it as a cook book. The cook book itself is the chromosome test - this examines the "chapters" of our genes. The Microarray is like the individual recipes - it takes a closer look at all the pieces of our genes to see if there are any bits missing or added on that aren't normally there. There is also a particular gene test she wants to do which is called PTEN. She says that this gene is consistent with some of her symptoms, and doesn't necessarily show too many signs right now, but it has been found to be linked with certain types of cancer (brain, skin, breast - all which are in our family history). She was not 100% that this will come back showing anything, but feels like it is worth a look. So again, it's a matter of what insurance will cover. Due to it being insurance through my work, it might be hard to get these tests approved since she is not showing any signs of medical needs right now. It would help us in the future, though, to know if there are any things we need to watch out for, so that either if she does have the gene that is consistent with cancers we know what to watch for and can catch it early, or if it is linked with developmental/speech delays we can make sure we provide her with the proper services to help foster her growth to the best of her ability. This is a hard one for me. While I think knowledge is power, and it's nice to know what to watch for to be able to help in the long run, I don't know if I want to know. What if by doing this we find out some random chromosomal thing that may or may not mean anything? But than, what if we find out that her chromosomes are perfectly normal, can we stop all this searching and referrals and testing that everybody wants us to do and just say that my daughter is perfectly fine - just a little different and special in her very amazing way? Than I extend the thought out - what if we do find something in her chromosomes? Than do Sam and I have something in our genes that we passed on? Does this mean that we are DEFINITELY done have kids? We both agreed if we ever find out it's anything that we passed on, we are done having kids. We feel bad enough making Brooklynn go through all this stuff not knowing she would, but we couldn't handle making another kid go through all this stuff knowing that it's a possibility. So many thoughts running through my head right now. And I know I should concentrate on the good things and I really do - it probably doesn't seem like I do and all I do is look at the negative and see all the things wrong. But she is the most loving, exciting, dare devil, funny girl. She is constantly trying to make us laugh, and loves her sister, and loves her cousins. She is full of life and excitement, and on the most part she has been pretty healthy (besides all the little tiny things we have found that really do not have much medical significance in terms of her health). I am just ready for this road to be over. Either let's find out something and know what we are dealing with, or lets move and be able to finally treat her like every other kid who DOESN'T have 10 specialists following her!