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.

Playing at the doctors

Brooklynn's Dermatology Appointment

Check off another specialist on the list of follow up doctors for Brooklynn. Today we went to go visit a dermatologist due to her cafe au lait spots. She weighed in at 34 pounds, and is 37 inches tall. Her blood pressure was 88/54, so where it should be.We go in and Brooklynn put a gown on. They took her medical history. They looked at her skin. Dr. Newell took a Hood Lamp (I think that's the name of it) and took a look at her skin - it's a purple light that helps these cafe au lait spots pop out. They found 7 spots, all measuring >5mm. He said they were very light and not very noticeable. However, they did find 7, and anything greater than 6 is a cause for further investigation. He is going to present her at a radiology conference so they can take a look at her head scans - I guess sometimes there are certain bones in the face that are characteristic of what Brooklynn MAY have.What they are looking for is a thing called neurofibromatosis type 1. It's a genetic (I think) syndrome that can just pop up out of nowhere, or it can be something passed on. In order to get that diagnosis, you have to have 2 characteristics. Right now she only has one which is the 6 or more cafe au lait spots measuring >5mm. There are a few other criteria which can't be ruled out quite yet. Some other criteria is freckles in the underarms and groin, which can develop later in life. Also, neurofibromas which are tumors that are located on or just under the skin mostly in nerves, which also can develop later in life. If there is a family member who has it that would also be a criteria. There are also things that can develop on the eyes called Lisch nodules and tumors that can grow on the optic nerve.She doesn't have any of the symptoms listed above as of yet. I guess there are times when older people don't even know they have this until they have a family member who is diagnosed, and therefore that can't be 100% ruled out, but luckily we don't have any of this in our family that we know about. So now we have a referral to opthalmology where they will take a look at her eyes. This will be a big appointment - if they don't find anything than there is only a low risk that she has this disease. If they do find something, however, it is a good likelihood she has this disease, because than she would have met 2 of the criteria. Some other characteristics of this is scoliosis, macrocephaly or large head (as we all know she has this), high blood pressure, and short stature. Next week, we have the ophthalomology exam. So here's hoping they find absolutely nothing in her eyes.

Brooklynn's Hearing and Speech Appointment

Today I took Brooklynn to her hearing and speech appointment. We were referred due to her decreased words that she says (she says about 30 words, and should say 50-60 at this age). First we went in to have her hearing checked. They can only check for hearing with the good ear, since she won't wear head phones. So what that means is we sat in a room and the lady spoke through speakers on each side of her head and if Brooklynn turned to the speaker, than she passed. She did well with the speakers. THey can only check this way because she won't keep headphones on. There could still be some mild loss in one ear or the other, but we wouldn't know that until later. She passed the screens they could do at this age, which means she can at least hear. The second stage was the speech evaluation. Since she is 2, most of the evaluation was questions that they asked me as her parent. I had to either tell them all the time, sometimes, or never. Let me tell you this was really hard. We evaluated her receptive and her verbal language. Some of the questions included if you put out 5 objects, would she be able to pick out one object if you asked her - (yes if they were all objects she knew)? Can she follow 3 step commands - (sometimes)? Can she look at a book and pick out a picture if you asked her - (a few pictures)? The verbal one was a little tougher. They asked if she knew the difference between "her", him", etc (no); does she use inflection (yes); can she say her name (sometimes); can she name small body parts (not really). Well all in all, what we found out is that she as some mild receptive and expressive language disorder. She was on point with a 19 month old with her receptive and on point with a 20 month old with her expressive language development. They recommended we enroll her in therapy. There is a wait list I guess for 4 months to even get into the program. And than after she gets enrolled, they will only be able to do therapy for 6 months. She stated that most kids will need therapy for at least 12 months, but after she turns 3 than hopefully we can enroll her in a school therapy program. The therapy sessions will be once a week, 45 minute sessions. I have to find out if this is even covered by insurance - since it's due to delay and not other medical reason, they might not cover it. At that point we would have to evaluate other options. The speech pathologist also stated some of her concerns were that she sometimes says words great (like baby) and than sometimes cuts out constanants (such as making baby to bay, or not saying the first or last letter in her words). Also, she sticks her tongue out a lot, and breaths a lot through her mouth, which could indicate some low oral tone, which could produce speech problems later on, so we would work on that in the sessions I guess. I told her she will probably need her tonsils removed at some point because they are always swollen, and that's a lot to do with her mouth breathing. So all in all, not terrible, but again stuff we will need to work on when it comes to making sure Brooklynn hits her developmental milestones. I am glad we will be getting her into therapy sooner rather than later if she is going to be having problem with speech, I would rather catch it before she gets too far behind. We have a long way to go to hit 300 words by 2 1/2....

Cardiology Appointment

I just realized I never posted about Brooklynn's Cardiology appointment. First, before I start that, all their labs came back completely normal from their yearly checkup. No joke - completely normal! Even the allergy test that we were waiting on for Brooklynn. For the first time in a long time, we got a "completely normal" with something that relates to Brooke's medical needs. I was so happy. We went to her cardiology appointment middle of this month. We had another echo, which showed that either she has the PFO that is about the same size as last time (it measured anywhere from 2-5 cm depending on what view), but there were also a few views that showed that it might just be 3 tiny holes instead of one bigger hole. Dr. Bingler felt it wasn't anything to be concerned about, and we would just come back in 2 years or so. We will than evaluate at that time if it has closed, or if we will need to discuss something else. Hopefully it closes. She has a dermatology and hearing and speech appointment for the month of April. After that, hopefully things will slow down in the doctor's world.