Tuesday, November 22, 2011

No longer a CHARGER??

So we met with genetics on Monday. We have a pretty great genetic's doctor that takes plenty of time with us and really likes to do her research.
She does not think that Nick has CHARGE syndrome anymore. She believes he has Lenz Microphthalmia syndrome. Nick has grown a lot the past year and has developed many more characteristics, I guess you could say, that push more towards Lenz.
His teeth are abnormal and he bottom two front teeth are fused to the teeth next to them. He also has camptodactyly, (permanent flexure of some of his fingers) which doesn't really fit CHARGE. And he has quite a few brain abnormalities.

This makes me sad in a few different ways.

First, we won't be part of the wonderful CHARGE family that we have gotten to know so well....although I still plan on keeping up with everyone and staying in touch!
Secondly, Lenz syndrome is an x-linked inherited gene. Meaning he got it from me. Only males who inherit the mutation are affected, females who inherit the mutation are carriers and are not affected.
Thirdly, the chance of this new baby boy having Lenz is 50/50. Just like flipping a coin. So far Carsen (yup that's his name!) doesn't look to have any abnormalities but we didn't see anything on Nick's ultrasounds (except for his cleft lip) until about 28 weeks. I am currently 26 weeks and we will have another level 2 ultrasound mid-december. We're praying he continues to be healthy!
Fourthly, my mother would also be a carrier, and each of my 7 (yes, I have 7 sisters and 2 brothers!) could potentially be carriers. So far, I am the only one that has had biological children. My oldest sister and brother-in-law adopted a beautiful boy last year but I've been the only one passing down the genes so far.
I have a cousin with Mowat-Wilson syndrome and apparently, Lenz and MWS are very similar and genetics is wanting me to make sure my cousin was not just clinically diagnosed with MWS and that he actually had the blood work done. I am certain he has MWS because his characteristics really line up with MWS but they want me to confirm for sure.
BUT, and I guess this is a pretty big but, they are doing further testing for Lenz to be sure. Nikolas actually tested negative for the initial BCOR gene testing for Lenz. But apparently, they only looked at one specific part of the gene. Now they are going to look at every part to see if there are any mutations.
THEN, if they find a mutation I would be tested to see if I am a carrier. I guess since Lenz is so rare they truly do not know if it's completely inherited or if it could be spontaneous.

So at this point we just wait for results, which could take 6-8 weeks. I am a little stressed about this but then I remind myself to trust in God. He's in control and nothing happens that He is unaware of and didn't allow to happen.
But, boy, that can be hard sometimes! Especially with these crazy pregnant hormones....

Just keep us in your prayers please. There is a lot of power in prayer and I realize that more and more each day.
We are so grateful for everyone praying for us all the time!

This is from earlier in the fall but I just love the face he's making!

Saturday, November 19, 2011

Let's get back to normal!

Thank you everyone for all the prayers! They were needed and gratley appreciated. I am sorry i didn't update sooner. His surgery went well, it only took about 2 hours and he had no trouble breathing after surgery either!! Actually, it was the first time he was cleared to go home right after surgery! Although it was late, about midnight or so when we left the hospital, I didn't mind at all! We flew home Friday and again Nick did great! So, Dr. Carvounis removed Nick's right lens. Then he was able to see his retina for the first time since he did the last surgery a month prior. The scleral buckle is doing it's job but he has developed some scar tissue along one of the muscles around his eye which is causing his eye to turn in more towards his nose,called esotropia. He already had this in his left eye but he is able to move that eye around more. So now both his eyes are turning in. There is actually a surgery they can do to correct this but will probably not do in either eye, at least for awhile. And his retina is not completely attached either. He has developed some scar tissue under part of the retina which is pushing the retina away from the back of his eye and not allowing him to see from that angle. If he continues to develop more scar tissue it will continue to push the retina away from the back of the eye. Dr. Carvounis said this happens in rare cases and he would need surgery again to correct it, but the chances of the surgery being successful are slim, due to his age. And whatever would happen at that point would have to be what it is. He doesn't think there is much else they would be able to do. Please pray with us that his eye will not continue to develop more scar tissue. I don't even know how we would manage to get back to Houston again. But for the next month he will health and 4 weeks from this surgery we will have the retina specialist here look at his retina to see if he's developing more scar tissue.

Wednesday, November 16, 2011

Bumpy start

Well things got off to a rocky start so far. Surgery was originally scheduled for 3:00 pm. That means Nick couldn't eat anything after 6 a.m. And clear liquids up until 11:00 a.m. We arrived at the hospital at 2:00p.m. and Nick was already kinda cranky from being hungry. Well, it's getting close to 5:00pm and we've gone through admissions and the initial meeting with the nurse practitioner but we're still waiting and surgery was supposed to start at 3:00 but they said things were already running behind. So finally they tell me that surgery got moved to 7:00pm ?!? What?? Why are they just telling us this? And why isnit being moved? No one can tell me for sure, just things are running behind and for whatever reason Nick was scheduled as an add on so he gets bumped every time there is any emergency. Then 6:30 comes and they take us back to the pre-op area and we meet with the anesthesiologist. Okay, now things are moving along.... or so I thought. Nope, an emergency rolls in right after us and they have to go back first. I am getting so irritated at this point because no one is telling me anything. I have to ask everything, what's going on? What's taking so long? And I'm not getting clear answers either. So we wait, sit and wait. Nick is doing pretty good but occasionally the hunger pains come back and he gets cranky. I don't blame him, I would be screaming my head off but not sweet Nick. He only cried when they put the dilating drops in, and only for a moment. He is really such a good tempered baby and he has the sweetest soul. He finally went back for surgery at 8:45pm. I really didn't think they did scheduled surgeries so late but apparently they do. It's 10:55 right now and he's still in surgery. I'm the last parent left in the waiting area which is hard, but not unusual for us. I am praying everything goes smoothly and he doesn't have breathing issues again but if the surgery takes a long time then he just might get stridor again but I'm thinking positively and praying for the best. I know a lot of people have been praying for Nick and we truly appreciate every prayer. So much.


So the flight went great! Nick slept the whole time! I was actually reading that kids with ear tubes usually do a lot better on flights than kids without them because they act as a pressure equalizer. So basically their ears don't pop like ours do. I am just so thankful he did so well!

Now for the next hurdle....surgery. Everything with insurance is cleared and we're ready to go on that end. They are not going to be putting a new lens in as far as I know so that kinda stinks. But eventually we hope they will be able to.

Please pray for Nick's surgery today that it goes well and he recovers quickly and that we don't have to stay two extra days either!

Thank you all for your thoughts and prayers!

Trust in the Lord with all your heart; do not depend on your own understanding.

~ Proverbs 3:5

Monday, November 14, 2011

Heading back to Houston

So long story short (for now), we decided to get a second opinion here locally regarding having the original eye surgeon in Houston do the cataract surgery or if there was one here that would be willing to do it. Not that I didn't want Dr. Carvounis to do the surgery again but traveling to Houston is not very easy.
So we wasted almost 2 weeks of waiting to hear back from this second doctor here, and surprisingly we STILL have not heard back from him. What a surprise....

Can you tell I am a little, just a little, irritated?

But I'm sure it's in God's plan's somehow.

So we are headed back to Houston, in a hurry, no less.

We are flying out tomorrow morning. Just Nick and I.  Surgery is Wednesday at 3 p.m.

Nick suddenly had blood kind of pouring out of his ear last Thursday. He has tubes and they think it was an ear infection but the nurse practitioner could not actually see his ear drum so she really was guessing. But we're on an antibiotic, both oral and ear drops.

Please pray for our flight tomorrow morning. I am concerned about how Nick is going to handle the flight. He has never flown before and I really don't know how pressure and ear tubes and no palate mix. Nor anything else Nick has going on really...but I'm praying he is not uncomfortable.

Thanks for thinking and praying for us!