Della's ASXL3 Genetic Research Published

The study that Della joined researched children who have a mutation of the ASXL3 gene has been published online. And bless them, they have given the publication free access to the public. Many medical research articles can only be viewed by those deemed appropriate (like doctors) and often require subscription fees. Anyway, the article is long and full of science-y words, so you may just want to skim. Della is "Subject 3" so you can identify her in the article. There are pictures of the four kids and it is clear that Della is the least severe. The description of her picture uses a few medical terms to describe the physical manifestations of the disorder. I looked up the terms and they describe Della's upturned nose, full rounded cheeks, and deep creases in her palms. All the kids have the upturned nose, deeply creased palms, low set ears, high and prominent foreheads, full rounded cheeks, feeding difficulties, developmental delays, hypotonia (low muscle tone), intellectual disability, and all are completely nonverbal. 3/4 (Della included) also have a high arched palette. The other three children have symptoms that Della doesn't. The other three all have hydrocephalus, are non-ambulatory (can't walk), failure to thrive, bottom percentiles in height and weight, smaller head size, and have a condition that causes the bones in the fingers to grow outward towards the pinkies (limiting the use of their hands). We are so thankful Della was spared many of the worst symptoms. But I can't help but have some "survivor's guilt" in thinking about the children who have all of the listed issues. My heart seriously goes out to them.

A few terms you might see:

de novo: Neither parent carries the ASXL3 genetic mutation. In all 4 kids the mutation happened spontaneously instead of being inherited and that's what makes this study so interesting (according to docs).

Bohring-Opitz Syndrome: A condition caused 50% of the time by a mutation of the ASXL2 (and sometimes ASXL1) gene. Physical manifestations are very similar to Della's (ASXL3) but kids with Bohring-Opitz have a lot of medical complications and don't live past early childhood. Della doesn't have this syndrome. 

Here is the link to the article:

http://genomemedicine.com/content/5/2/11

And for your entertainment, here is della eating non-toxic water color paints that I diluted in water. I did this knowing that she would "sneak" a taste whenever she thought I wasn't looking. This video shows her "naughty" side and her blatant disregard for my (apparantly bunk) authority. Della knows FULL WELL what I am saying. Stinker.

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 6.4 billion times. Such a simple and beautiful and complex structure that can only be the work of God, not circumstance. Lots of mixed emotions today. But we have an overall feeling of gratitude. So thankful to finally have an answer. Something denied to so many parents. And gratitude that God has entrusted this special spirit to me. (Top photo by Lydia Tolman)

ASXL3 is one of 22,000 genes. 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 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 depending on where the interruption is in the gene, the more severe the affects will be. If the second sentence of a paragraph is changed, the majority of the paragraph will be affected. If the last sentence is changed, hardly any of the paragraph is affected. Della's mutation is towards the 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. Many genetic conditions require that both parents carry the recessive gene that causes a disease. Remember Punnett Squares? Let's use hemophilia as an example. A person with hemophilia has to have both parts of the gene (hh).  A person who doesn't carry the gene for hemophilia will be NN (for normal). A person who does carry the gene is Nh, but remember, both halves of the gene are required to have the disease, so Nh is a carrier but doesn't have hemophilia. Say NN and Nh got together and had a child, the child would either be NN or Nh but he wouldn't have hemophilia. Let's say the parents were Nh and Nh. The child could be NN, Nh, or hh.

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, augmented 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). 

The Kids Started School! The Perfect Time For Me To Get Sick!

So the kids started school! Archer started 3rd grade and Della started preschool all day everyday. Big changes around here. I have taken care of Della for 5 and a half years. And by "taken care of", I mean at least 5 appointments a week for the past 2 years and various stages of busy before that. It's been an intense time in my life and in many ways, it's over now. So after everyone got on the bus,  I cried (sobbed) for 5 minutes (10 minutes) and then I thought "Now what?"

Also, Della's super cool EZ Rider wheelchair/stroller was delivered last week. She makes us push her around the downstairs in it...

So I'm sick. It started a few months ago when I would get a searing but brief pain in my teeth. I figured it was a cavity. The pain became more frequent. I figured it was two cavities and maybe I was grinding at night. Then Monday came around. I had the most excruciating pain I have ever felt on the entire left side of my face. I don't think you understand. I'm saying it was the worst pain I have ever experienced. When I had an "attack" I would literally have to stop what I was doing and huddle into a ball as I prayed for it to stop or for me to just die. I get goosebumps just thinking about it (not in a good way). I saw a Neurologist who said I had Trigeminal Neuralgia, which meant my Trigeminal cranial nerve which runs along the side of the face, was being pinched. She prescribed something for the pain and scheduled an MRI to see what was pinching it. The pharmacy didn't have my meds ready when I stopped by, so I went home to meet the kids and asked Chad to pick them up for me. By the time he got home I was out-of-my-mind with pain! I was pacing and crying and otherwise freaking out. I would have paid a dentist to pull out all of my teeth with no anesthesia if it would stop the pain. It's gotten better since the meds. Let's just say my pupils are perpetually dilated and I spend the day feeling "floaty".

So now I wait for my MRI (9/4/2012) to figure out what is next. Until then I stay on my medication and avoid activities like driving or anything else that requires a lot of concentration (even now, my eyes hurt with the effort it is taking to type, so please ignore any typos or rambling). It's also hard for me to read, text, and it's painful to talk. So I sit at home. Alone. Doing not a whole lot.

I really really really hope it's not a tumor for obvious reasons. There are a slew of different causes, none of them particularly pleasant. If you would like to know more, you can read about it on Wikipedia. I'm warning you, it's harsh. I did notice that TN's nickname is "The Suicide Disease". I had just said to Chad that if I had lived 100 years ago I would either be a drunk or I would have thrown myself in front of a speeding wagon. Was that even funny? See what this condition has turned my sense of humor into?

Speaking of which, here are a few gems I have come up with while on the drugs:

-After waking up from 3 hour nap: "I should go to Hobby Lobby right now and but 30 faux succulent plants. They would look so nice all over my house! And I could give some out to the neighbors."

-Friend: Well, maybe you should avoid situations where you might volunteer for something you would regret later, like being in charge of the ward Christmas Party.
Me: Yeah! Or getting pregnant!
Friend: Or that too...
Me: And then naming the kid Vicodin! Or if they were twins, Butter and Cake! My two favorite things!
Friend: I think you should go back to sleep.

-Waking up this morning: "I think I have developed a special sense where I can feel actual germs on my feet. I could totally be one of the Avengers."

-Waking up yesterday: "I'm 99% sure I have disproved Napier's Constant. I'm going to make so much money!"

-The phone rings waking me up from a stupor on the couch: "I knew they would call me back! "Masterpiece Theatre" totally needs a middle-aged cast member with not so great skin and a shrill voice!"

-Sometime on Thursday: "I just controlled TiVO with my mind!" Turns out I was sitting on the remote.

Well, it's time for another pill. Until it kicks in I am going to continue working on my NY Times Crossword Puzzle. It's weird because I can usually finish one in 15-20 minutes. I've been working on this one for an hour and 45 minutes. So if anyone could help me with a 6-letter word that starts with "M" and ends in "EY" let me know. The clue is "A famous mouse who made his debut in 1928". This one is a toughie!

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!

NASA!

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.

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...

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...

BOOYAH!

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