My Patience Is Thin...And FirstSteps Update!

So we have been waiting...and waiting...and waiting to find out results from Genetics Labs. We had to wait on insurance to approve (or not) for 3 weeks before we got the denial. Than we decided to go ahead and send the labs and pay out of pocket. Well, just found out that the order never got placed for them to send out the labs, so we have been waiting 3 more weeks to find out that the timeline is getting started AGAIN! So they just FINALLY sent out the labs to GeneDx lab in California last week. Which means we still have 4-8 weeks to find out the results. I find myself to be somewhat of a patient person (mostly). But my patience is running thin. I don't know if I can handle any more hurdles to getting these results. I know the results don't really change anything, except maybe an understanding of what is going on - or another test that proves everything is just fine. FirstSteps has been coming to our house for about a month now. And I feel like it is one of the best things we have done for Brooklynn. Her vocabulary is starting to take off. She is attempting to use more words than ever before. They might not be 100% clear, but she is attempting to talk a lot more which is encouraging. We are working on some of the behaviors she has - such as being able to sit and concentrate on things that she might not want to do. Firststeps is giving us things that we can work on at home, which makes it nice to know that we can continue to foster her development. I am excited to see how much more improvements she can make. The girls start school in a couple of weeks. Izzy is so excited to be a big girl and go to Pre-K. Mommy's not so sure she is ready for this big step yet! And Brooklynn has no idea she is starting school, and mommy is really nervous for this big milestone as well. School will really help us, though, in determining if her behavior things are really something to worry about, or if she will adjust to a schedule and expectations that school presents her. We get to meet their teachers next week which I am very excited for! Life has been full of exciting and fun things this summer. The girls are growing every day, and discovering more and growing so much! I am loving every minute of this parenthood thing - even the difficult, trying times.

Waiting game extended...

Well, insurance company - you are not my favorite people in the world right now. So you decide to deny all the genetics testing, that's fine I guess I have to deal with it. But you wait until the final day (a full 30 days) to tell us you deny it? What frustrates me the most about this (besides the obvious that now insurance won't cover it, and now we have to pay out of pocket for a test that a DOCTOR recommends)is that now we are in the same situation we would have been in 15-30 days ago if you had denied then, but a month later in getting results. Now don't get me wrong - one month isn't that big of a deal in the grand scheme of things. We have been waiting almost 2 1/2 years. But we could have had results of one of the tests by now...or close to it. Now we are going to have to wait another 4 weeks for one test (microarray) and 6-8 weeks for another test (gene testing). They have to send out to a different laboratory, that offers genetic testing at a significant cheaper price ($100 per test, one of the tests costs $4000 if they didn't provide this financial assistance). Still a LOT more than we were hoping to pay. But the genetic doctors very strongly that we should send this lab. Than we might have some answers, and be able to provide Brooklynn with the appropriate services. So we will be sending them out tomorrow. And than we will wait some more. Brooklynn had her first 1st steps therapy session yesterday and I would classify it has not TOO successful. She was in full force stubborn mode! She didn't want to do anything, she didn't want to copy, and she just wanted to grab for everything she wasn't supposed to. We do have some tasks to work on now, which feels good. We need to try to get her to use the sign or say "More" when she wants stuff, instead of just getting it for her. This will help with both her speach, and also her ability to relax and wait for something which should hopefully help her attention span. This might be hard - as we give in to her pretty often. Who wouldn't, she is just so darn cute!! Isabella was super excited about the therapy session, because now she can be a "teacher" and help her sister with words. This ought to be great fun. Isabella has started getting an "allowance" which is kind of fun now too. She has a chore chart, which she has to do 6 chores throughout the week (this is simple stuff such as put her dirty dishes in the sink, put her clothes in the laundry basket, eat all her dinner, brush her teeth, pick up her toys when she is done, and keep her room picked up). She is SOOO excited about this. The amount of stars she gets determine the amount of money she gets for her allowance at the end of the week. Right now, we are going to go broke as she is SOO excited to do her chores (last week I owed her $5). I think this will go away as the weeks go on. But she will have a save bank and a spend bank. She got to put that money in her spend bank, and next week she has to put it in her save bank. She already knows she wants to buy legos with her money - she has a ways to go. But I think I am as excited for this as she is! I can't wait until Brooklynn can join in. The toys are getting picked up a lot easier than they used to :).

Brooklynn's ENT Appointment

I forgot to post about Brooklynn's ENT appointment yesterday. I like to write this stuff down, mostly for myself, as I usually forget what was mentioned, so this is more for me to remember :). She still has her left tube in, and her right ear still looks great (this tube had been removed as it was falling out). She will keep it until it either falls out or April of 2013. If it is not out, we will either remove it in the office, or have to take her back to surgery to have it taken out and the hole sewn up. Her tonsils are still enlarged (they always have been). On a scale of 0-4, she is a 3. He said 4 is touching, and three is where you can see the uvula and there is a little space. She has not been snoring, and has not had any cases of strep, so he doesn't feel like we need to take them out yet. He said if she starts snoring, having trouble with sleeping, and we notice a behavior change than he will take it out (I guess they only remove about 60%? of the tonsil or something). If she has 5 strep throat cases in 1 year or 8 in 2 years they will remove 40%(?) of the tonsil. Other than that he said things look good. I am SOO happy we made the decision to have her tubes placed because ever since she had them, she has not had hardly any ear infections (in the first 11 months of her life she had 8 infections, and after her tubes were placed on February of last year, she has only had 2). Such a good feeling to know we made the right decision.

First Steps Referral

We have all the assessments and things needed for our First Steps program. We qualified to receive weekly therapy sessions in our home for Brooklynn. So we will have a speech therapist come to our house (or my mom's house depending on my schedule) and work with her to help improve her speech. She is definitely getting better every day, but she is still having some troubles with communicating. My biggest concern is her ability to communicate, and when she can't she gets frustrated and sometimes resorts to hittiing or biting. I would love to stop this from happening, so feel like therapy would be a great step. She is starting to say A LOT more words (50+), using 2 word sentences, and having "conversations", but it still hard to understand what she is saying some times, and people who don't know her have a hard time understanding what she says. She is communicating pretty well with actions. They feel like they would be able to provide her with great services to improve her speech, and also help us with her behavioral things (she has a really short attention span a lot of the time.) I am really excited that we will have these services, and hope that we won't need them very long at all. I hope by the time she is 3 we won't even need to go to the school district because she will be caught up. She really is not that far behind in anything, but I want to give her as many tools as she can have to make sure she is able to stay up there with everybody her age. I am excited to see the improvements every week. She really likes the therapist and interacts really well with her. The therapist said she is excited to work with her as she thinks she will be fun (I am sure she says this to everyone but still feels good to hear it). We are still waiting to find out if insurance improves her genetics labs. I really want those to be started so that we can get an answer soon. If it shows something that I want to make sure we have her in the right programs, and if it doesn't show anything than be able to move on. Izzy and Brooklynn are both in Vacation Bible school. Izzy is LOVING it as she gets to see some of her friends from school. She has been so excited that she will be starting Pre-K this year. Brooklynn did well for her first day, so I am hoping this is a good sign for her starting school this year.

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!

Brooklynn's Ophthalmology Exam

Today we had Brooklynn's Ophthalmology Appointment. I have to say she did so much better than I thought she would. I thought it would be a disaster and they would be able to look at her eyes, but she let them thanks to some very nice nurses who helped distract her with toys. They first looked at her irises - this is where they would see bumps and change in pigments of her eyes if she had them. THey looked and said while she has a lot of pigment, she doesn't have any bumps, so this was good. They dilated her eyes, and we waited around for 25 minutes in the waiting room. They took us back and the doctor again looked at her eyes, this time at the nerve in the back of her eye with a special tool. Here, they were looking for what's called gliomas, or growths in her nerve. They did not find any of these either. She said sometimes they are so far back that you can't see them, but she didn't think there was anything there. She also said her vision was good. So while I was really relieved that there was nothing wrong, she than proceeds to tell me they can't rule out neurofibromotosis because sometimes these don't show up until a person is older - and commonly they start around age 6. So we will have to come back every year to see if there are any changes. So yet another follow up every year we have to go. Don't get me wrong. I am SOOO grateful that my child is healthy right now. That there is nothing going on with her that would warrant someone to be concerned or to diagnose her with anything. But some days, it feels like I have a ticking time bomb on my hand. That one day, I am going to finally get this worry that is going on in the back of my head to go away, and than something is going to explode in my face. I wonder - are there any other people out there who have to follow with so many specialists and their child ends up being perfectly healthy? Or should I question that we have seen 8 specialists, most of them who are wanting to follow us and won't release us out of there service, that there is just something we have not caught yet? I know I shouldn't think that way. But I am having a really hard time getting that out of my head. I should concentrate on the fact that I have the most loving, fun, exciting 2 year old. She is full of energy and good spirits and wonderful enthusiasm. She makes me smile a hundred times a day. I should be grateful that everything, even if there is slightly something a little off, has been mostly normal. I am, but some days I just need to break down and cry and be angry that my child has to go through all this without any real answers. That's the end of my soap box. I love my family and wouldn't trade my life for anything. Just wish things could be a little easier for Brooklynn, and hope that when she is old enough to truly wonder what is going on, we are no longer being followed by specialists.