November 29, 2010
I have never been more worried in my entire life. We have been holding our breathes waiting to hear the outcome of your blood work.
We decided to make an appt. with a physiatrist. On November 23, we saw Dr. Farabee (the well known, Dr. Keen doesn't see new patients). I cannot believe how long the wait was to get in (couple months). After the evaluation, I see why there is a long wait. I was extremely impressed with the time she spent with us. For 2.5 hours she observed Cameron, asked a lot of pregnancy, birth, and developmental history. You’ve been a little medical mystery b/c I had a normal full term pregnancy without complications during delivery plus you don’t quite fit the exact diagnosis for what seems like anything. Your MRI and blood work over the summer came back normal. I don't feel like you’ve has regressed; just platued for a little and now making progress (slow, but progress nonetheless). For me it's like watching paint dry since I am with you 24/7, but for others, they notice improvements, which I get overjoyed hearing.
Anyway, after the initial evaluation, the doctor wanted to do more blood work to check for genetic disorders, one in particular. I am praying and hoping for the results to be negative. PLEASE! They are testing for Rett syndrome ()
and if this comes back positive, this is going to be quit a challenge for all of us. I get sick to my stomach reading about it. Dr. Farabee said that you fit into some symptoms, but not others. We are holding on to some hope b/c you don't fit into some big symptoms of this, such as poor/no eye contact, no socialization, a regression of skills, seizures, trouble sleeping, feeding issues. Eye contact, social interaction, and feeding are some of your strong skills. Plus, the past 2 months, you’ve started to pull yourself up from sitting to stand (in a chair) and can now feed yourself with a fork/spoon. I tribute a lot of this to Grandpa Babiarz working so hard with you. Your head doesn't seem small to me at all, I thought you had a big Corrado head :) The things you are exhibiting of this syndrome include low muscle tone, milestone delays, hands constantly in your mouth (but when you put a mitten on your hand, you don't do it). I forgot to mention that the Dr. called Lutheran General to see if you were initially tested for Rett syndrome back in June. It turned out that you were tested for about 160 things and Rett syndrome was one of them. However, they do a small sample testing of each thing (which I presume check for big red flags). The 10%-ish that you were tested for came back negative. So, we are hanging onto that tiny bit of hope that you were already tested for.
I can't tell you enough how impressed I was with the physiatrist. Right after they called Lutheran General for the blood work, they found out your blood was sent to a bank in NC. They called that lab and told them to test that blood so that you didn't have to go through another blood draw.
We are proud of our little peanut and see you trying hard everyday. The equipment you’re working with is helping so much, especially the orthodics. When you first put them on, you got this enlightened look like "wow, this is what it's supposed to feel like when I stand!" You stand so well in them. The eye patching has worked wonders. You can barely notice anything anymore, only when you are extremely tired. You babble a lot and tried so hard to say full words. It just doesn't seem like all your muscles are working to fully form the words. You say the correct first syllables for certain words, which is a good thing. You are saying “Uh” for “Up” and “Ba” for “bottle, baby” and other “B” words. These are the improvements we are so happy with. Your body seems under stimulated, but once we get some OT exercises in, your muscles seem to 'wake up' and you’re really good.
The past couple of days have been the most terrible days I've gone through with the nervousness of waiting to hear back from the lab. I've cried more these past couple of days with worry than all of my almost 31 years combined. I know I have to try to remain calm and take care of myself for #2, but it's so hard. This parent thing is so much more emotionally draining then I ever thought! :) Daddy’s been absolutely wonderful. I wish I was able to think like him. He keeps telling me "there's no use in worrying yet b/c we don't know yet. Whatever it is, it is and we did nothing wrong, it's just a fluke. We will be strong for Cameron b/c we have no other choice." Our families have been so wonderful as well.
I love you so much, Cameron. No matter what the outcome of these results or future testing concludes, we will do everything we can to give you the best life possible. We want the best for you. We want you to be happy and healthy. I wish I could take all the struggles away. You are such a happy little girl. You make everyone smile. We will always do what we think is best for you. We will be strong for you as you’ve been so strong for us.
I love you with all my heart.