Tuesday, December 11, 2012

Answers For Della

 And there it is...
The one gene of 22,000 that has made my baby the way she is. ASXL3. Such an unassuming name. A tiny change in the sequence of letters A, C, G, and T repeated 3.2 billion times. Such a simple and beautiful and complex structure that I believe can only be the work of God and not circumstance. Lots of mixed emotions today. But we have an overall feeling of gratitude. So thankful to finally have an answer because it is something denied to so many parents. We also feel gratitude that God has entrusted this special spirit to us. (Top photo by Lydia Tolman)

ASXL3 is one of between 20,000 and 25,000 genes and Della's ASXL3 gene has a mutation. Think of the human genome as a set of encyclopedias that contains all the genetic information that makes us unique human beings. All of that information is organized in a certain order, just like an encyclopedia is organized from A-Z. A specific gene is like an entry in the encyclopedia. Say the entry is all about dogs, it begins with dogs and ends with dogs. A mutation interrupts the order of a gene. So imagine reading the paragraph on dogs and half way through you come across a sentence about Mongolia. Suddenly, the rest of the paragraph has been changed. The theory is that the location of the interruption determines the severity of it's impact. If the second sentence of a paragraph is changed, the majority of the paragraph that follows it will be affected. If the last sentence is changed, hardly any of the paragraph is affected. Della's mutation is towards center of the gene, maybe 1/3 of the way down.

No one knows how Della's mutation happened. Chad and I also had all of our genes sequenced and we do not have the mutation. Della's mutation is classified as a de novo truncating mutation. That means the mutation spontaneously occurred, probably within a few hours of conception (TMI?). Neither Chad nor I are carries of the mutation.

We have been asked by TCH and Baylor to participate in research to study the ASXL3 gene. So far there have been two more little girls with a similar mutation to the same gene. One is in Germany and one is here in Houston! At the very SAME clinic! So if you happen to the the mom whose daughter has a ASXL3 mutation, PLEASE CONTACT ME! Hopefully this research will help other parents to understand what their children with this mutation need, like early intervention speech therapy, augmentative/alternative communication devices, physical therapy, etc. They can look to Della's life and know what to expect. I still hope that we can find someone who is 20 or 30 years older than Della and has the mutation. As honored as we are to be "pioneers," finding someone who has walked the path before us would be a great blessing.

Note: I wrote this back on August 6, 2012 which was the day we met with a large team of doctors at Texas Children's Hospital and got Della's genetic results back. It really has taken me all this time to process this information. Now when ASXL3 is searched, this post will come up (instead results solely made up of genetic testing done on rats). 

Friday, April 06, 2012

Archer's Baptism Day

Turning 8 years-old is a huge milestone for members of The Church of Jesus Christ of Latter-Day Saints. It is the age of accountability and it is the minimum age for a child to be baptized.  Here is an explanation from Mormon.org:
"One of the purposes of baptism is to symbolically wash away our sins, but even Jesus Christ, who lived a perfect life, was baptized. Jesus was baptized because it is a commandment and he wanted to provide a perfect example of obedience to Heavenly Father’s divine guidance.
The ordinances of baptism and confirmation are a way for us to show that we are willing to take the name of Jesus Christ upon us, which means to become Christians and do our best to always live accordingly. First, we are baptized by being lowered under water and raised back up by a person who has authority from God to do so. This action symbolizes Jesus Christ's death, burial, and resurrection, and it also represents the end of our old lives and beginning a new life as His disciples. After we are baptized, a person with authority puts his hands on our heads, gives us the right to receive the gift of the Holy Ghost and confirms us members of The Church of Jesus Christ of Latter-day Saints."

So being that it is a big day for my son, of course I was a bit of a teary mess. Archer came up out of the water laughing and since a gospel ordinance is a rather reverent occasion, people were a little surprised and chuckled as well. Later on we asked him why he was laughing and Archer said "Because I just felt so good! I knew I was doing what Heavenly Father wanted me to and it made me happy!" Couldn't have said it better myself!
With Nana Bee

This is the only picture I had of Uncle Matt.

Archer and Heather

Sam, our very close family friend, babysitter extraordinaire, and Archer's first crush. We will miss her sooooooo much when she leaves for college this summer!


We had some visitors come to town (which is kind of rare considering that no one really says "Let's go to Houston on vacation!"). Uncle Matt and my cousin Heather came for Archer's Baptism and we decided to visit NASA because, let's face it, there isn't a whole lot else to do.

There's Uncle Matt taking a picture of me taking a picture of a rocket in the bottom left corner.
Archer thought NASA was "Kinda cool."

Della Belle Turns 5

Della's 5th birthday was this past January. Della doesn't blow out candles, make wishes, or eat cake. She doesn't even understand that a birthday celebration is for her. I was determined to at least doing something for her that she knew was special. So we took Della to her favorite place, the Cockrell Butterfly Center. I love that she loves going there. The exhibit seems to bring out a reverence in people as they watch the beautiful butterflies float freely around them. When I see Della with the same expression of wonder on her face, it helps me to remember that she isn't so very different from everyone else. It's strange to think that she is only 5 years-old. So much has happened in her short life and it often feels like she's been in our family for at least twice that amount of time. I could't help but think that when she does turn 10, or even 20, we could be spending many of Della's birthdays here. That's alright with me. It's not everyday that we get to see our children experience joy, especially as they get older and more self-conscious. But that's where Chad and I are lucky, Della will never be self-conscious. She will always laugh because she is happy and her delight won't be stifled by her disabilities or fear of what others might think of her. And this is just one of the countless reasons we are blessed to have her forever.

Thursday, April 05, 2012

For Lack Of A Better Title: Christmas and New Years 2011

Winter all over the United States was mild and Houston was no exception. This is the first winter since we moved here in 2008 that there was no snow. Even with the mild season, we still had a few freezing moments, like the night we picked out our Christmas tree.

Della and Archer bundled up against the 22 degree wind chill...

Della thought picking out a tree was super fun!

And she knew just what to do when we brought it inside...

This year we had a nice quiet Christmas at home. Christmas morning had an early start (5:30AM) since we had 9AM church services. We live about 20 minutes from the chapel and that meant we had to open gifts, eat breakfast, get dressed, and be out the door at 8:40AM. Archer gets up around 5:30 in the morning anyway, so he was bright eyed and bushy tailed. Here he is with his new pull up bar...

Della was a little slower to warm up. She considers anything before 10AM as "too early"..

Strawberry Shortcake helped to perk her up a bit...
We always miss our family during the holiday season, but I have to admit, it is really nice to have a quiet Christmas at home. Other than church we didn't have anywhere else to be and we really enjoyed just being together as we celebrated the birth of our Savior.

New Year's Eve was much warmer than in the past; a muggy balmy 65 degrees...

Here is Chad lighting a firework appropriately named "The Punisher." Archer can be seen running for his life...

As time went on the boys became braver. Here is Chad holding a Roman Candle as it fires off...

Sis and I stuck to sparklers...

Wednesday, April 04, 2012

He's Crafty! What? And He's Just My Type!

So Chad MADE a beautiful entertainment center. It turned out sooooo good and I LOVE it! He finished it over Thanksgiving weekend and then went and got us a big 'ol TV on Black Friday. Here's how it went down...

 And that, my friends, is how you make an entertainment center!