A Post Between Posts

While I sit here rocking Nicole to sleep, I'll share a couple of cute photos with you. Matt is planning to do a big post on Vanessa's birthday bash and Nicole's blessing, so stay tuned. In the interim...








By the way, for those who have been tracking Nicole's progress, she continues to do well, and will get her tendons clipped with her next casting Thursday.

Semi-Closure

Lisa and I met with a geneticist on Tuesday to discuss the results of Nicole's chromosome test and to try to put a name to the condition our girls have. This is going to read a little bit like stereo instructions, so I apologize in advance.

First off, Nicole's chromosome test showed that she does not have Turner's syndrome, which is good. After seeing Nicole, the geneticist, Dr. Carey, was very convinced that Nicole and Vanessa have the same form of dyslasia; Nicole's being slightly more sever, but only because of her club feet. All forms of skeletal dysplasia exist on a spectrum. It is most likely that our girls are on the mild end of the diastrophic dysplasia, which borders on recessive multiple epiphyseal dysplasia.

Basically, that means that other than Nicole's club feet, both girls will just be short (but proportionate). The root of this form of dysplasia is found in the DTDST (or SLC26A2) gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage, which becomes bone. Mutations within this gene cause the bone abnormalities which are characteristic of diastrophic dysplasia (and also causes club feet).

Because this condition is inherited in an recessive manner, our children will have a 25% chance of being affected, 50% chance of being asymptomatic carriers, and a 25% chance of being unaffected non-carriers. Knowing that two of our girls have this also confirms that Lisa and I are both carrying a single copy of the disease-causing mutation.

In order to confirm that this non-official diagnosis is correct, we will have Nicole's blood sequenced to find the mutation. This will give us accurate expectancies for adult height, rate of recurrance in future children, and so forth. As a rough estimate, Dr. Carey said if Vanessa follows her current growth pattern, her adult height will be about 5'-5' 1". He did say that there is a possibility for growth hormones down the road, which have been shown to boost growth by up to 5 or 6 inches.

As it stands, we couldn't be happier with our two beautiful girls. Despite their small stature, they are larger than life! They bring us so much joy, and keep us on our toes. Here's a recent shot of me and the girls. Vanessa hasn't quite figured out how to share her Daddy...and I don't think I've quite figured out how to say "I can't hold you right now" to that cute little face.

My Sleepy Girls

I have been feeling sorry for our little blog and it's lack of posts lately (I keep meaning to give a "virtual tour" of our new place, but life kind of takes over). In the meantime, I thought I'd share a few pictures.

The other day I was determined to finally get Vanessa's room unpacked. Hers is the hardest room since I can't do it while she's sleeping in her crib. So, we put her on the guest bed. She wasn't quite sure what to do, so she stood at the door for a while, calling out, "Mommy? Grandma?" After a while we didn't hear her anymore, so I went to check the result. Here it is:

Since she couldn't climb back onto the bed, she finally fell asleep standing up. Poor tired girl! After I took her picture, I laid her down so she could actually be comfortable.

Nicole is my other sweet sleeper. Although she has her fun awake times, she also falls (and stays) asleep pretty well most the time. While I was still working on Vanessa's room, I fed Nicole, then put her in Vanessa's crib. This shot reminds me of her favorite pose in the untrasounds.

Doesn't she just make you want to snuggle up and take a nap?

Here are a couple other photos to tide you over till our next post:

This one cracks me up! It makes Nicole look a little funny, but she is fascinated by her own tongue!
Our outdoor girl is doing one of her all-time favorite things: throwing rocks in the water. We went to the canyon again and remembered the camera this time. She is just so stinkin' cute!

We also got to go to the Orem Summerfest parade while Grandma Brown was here. Vanessa was very excited about the police motorcycles. Here is a video from the parade.

As this post is already a little random, I just wanted to throw in a little thanks. We will try to let you all know on an individual basis, but we are extremely grateful for everyone's help, prayers, and support over these past few weeks (and months). We just love our beautiful girls to pieces, and sometimes we wonder what extra challenges may lie ahead. Knowing that all of you also love them and want the very best brings us a great deal of comfort. We consider ourselves extremely blessed to not only have Vanessa and Nicole, but also to be surrounded by such wonderful family and friends. We love you! May the Lord bless you for your goodness!

Another Update...I can't think of a cool title

Well, Nicole got her second set of casts this week, and we were already able to see some improvements. Here are some pics of what her feet look like now.

You can see that now her feet aren't turned in so far and her arch is lower. Here is a picture of our doctor, Dr. Stotts, working his magic.

We didn't end up signing or drawing anything on Nicole's first casts, so we have been trying to make up for it with this set.

Nicole has been an amazing baby throughout this whole process. She did have a little more difficult time as they put her casts on, but after the initial discomfort wears off (about 24 hrs), she returns to her little, peaceful self again. We are so grateful to have her in our family.

Vanessa has also made us very proud lately. She is growing up so fast. Up until about a month ago, she was terrified of slides at the park. However, lately she isn't happy until she gets to go down the biggest slides at the park all by herself. Here is a picture of her ready to go.

She has also started to kind of roll her eyes at us. It is really cute now, but I can see it not being so funny later.

And finally, we planted some stuff in our flower bed/garden. As an early birthday present, we took Lisa to Home Depot and let her pick out a bunch of flowers and vegetable seeds. I wish we would have taken a picture from when we moved in, because the before picture I have now is still 100 times better than it looked at first. Anyway, here is our progress.

Although it took us until 12:30 am to finish, we are very happy with our work. It will be really fun to grow some veggies too, especially my jalapeno plant!!

And lest we forget to recognize the woman responsible for all our clean clothes, clean dishes, rock-free soil, happy daughters, and our sanity, here is a picture of Mama (Lisa's mom) with the girls.