For the Love of Each Other: 2011

Oh my gosh! I am so excited : ) I came into our family room just a few minutes ago and out of the corner of my eye I thought I saw our 4 year old daughter, Regan, playing in Julia's new play area we set up for her. The reason I thought this was Regan, was because what I saw was someone in a "sitting up" position. But it wasn't.....it was Julia!!! She still had her hands on the ground, propping herself in this position, but WOW....go Julia! I managed to run and get my camera really fast and got two pictures before she rolled over to her back. I have shown pictures here on our blog of Julia up on all fours, but she had not yet started heading to the sitting up position. She has been loving this play pen area with colorful foam mat and lots of toys from Beyond Play. Our Julia is getting stronger and stronger everyday. Oh, and before I forget.....she is now 28 lbs. 2 oz. That's up 12 lbs. 10 oz. from her weight of 15 lbs. 8 oz. when came home with her almost 6 1/2 months ago. She has also gone from 18m clothes to 3T. We are amazed. Praise the Lord!

Hello blogging friends! Sorry it has been so long since an update : ( Obviously, the reason is simple: busy, busy, busy!!!

When we brought these two sweet children home, we were wrapping up the school year.   Between being gone for 6 weeks last spring and adjusting to two more kids with many doctor's appts., I really slacked off on the homeschooling. So, I am trying to be more consistent and "catch up." So please continue to be patient with the blog updates.

Aaron is going to 4 year old preschool and LOVING it! Every night before he goes to bed, he asks if he is going the next day.   His teacher, Mrs. B has CP also, and she just adores him. I think sometimes she worries too much about how he is going to be able to do things.....a lit bit protective! He and Regan, our four year old daughter, are best buddies. They really enjoy going to preschool together.

Aaron has had surgery on his eyes, but we think it will have to be done again. About 5 days after the surgery, we could see them coming straight to the front and then they actually came in and were crossed. The dr. said this is normal and that they would correct themselves over some time. He also said the longer they stayed "crossed" the more likely they will stay straight permanently once they straighten. But now, they have drifted back out. He has a follow up with the dr. next Wednesday. I'm sure he will recommend he do the surgery again, where he will inject more botox into the outer part of the eye to "immobilize" the outer eye muscles and cause the inner muscles to tighten and pull the eyes straight. This requires visual feedback from the brain. This is why it is not an exact science. But once they get the right amount of the injections into his eyes, it should be a permanent fix.

We have also been taking Aaron up to Shriner's Children's Hospital in Philadelphia. So far we have made the four hour trip twice. The first was to have an initial evaluation. The second was for a motion lab study. This was a two hour appt. where they do a series of tests and evaluations to guide the surgeon's plan for operating on his legs. We will have to go up for a pre-op visit sometime soon, as this 4 hour surgery is coming up on Nov. 18.

Julia is doing very well also. She had surgery to put in a permanent GI tube. This is so much easier for her and us than the NG tube. She is still gaining weight, though I am not sure of her exact weight. It's somewhere over 26 pounds. She has had some problems with reflux, constipation, and wretching. But we have gotten all of these under control with the surgery, antacid meds, and Miralax. During the surgery, the dr. discovered a large hiatal hernia which he was able to repair.  So things are going much more smoothly with her and she is not suffering from so many unpleasant physical problems.

I guess the most important information to pass along to you all is that the genetics department finally got back to us about Julia's "diagnosis."  At the moment, they are still working on writing up a report with all the information in it. I did talk with one of the genetic counselors on the phone a couple of weeks ago and they told us they have found several unbalanced translocations in studying her chromosomes. But none of them are on the section of the 5th chromosome that would indicate she has Cockayne Syndrome.   There is some defect on the 5th chromosome, but lower or higher (I can't remember) than where the CS defect would be. What it does point to is another disease that isn't named after a doctor.  They said it is called 5Q14.  However, this is not a complete diagnosis as there are several other unbalanced translocations between chromosomes 9-16. So at this point, it sounds like we don't really know exactly what she has, but we know that it doesn't look as though it is Cockayne Syndrome. This could mean that her life expectancy is not as definitive or shortened as we thought. We knew from the beginning that we would love her and give her the best quality of life we could give her, for however long the Lord keeps her with us. This has not changed. Medically, it really doesn't matter. With or without a definitive diagnosis, we will treat her symptomatically. And most importantly, she has a family who loves her and will care for her needs, even without having a definite diagnosis.