Leah's new trick

So I wouldn't be surprised if you're all sick of hearing us write about little Leah so much, but, really, who wouldn't be obsessed with this adorable face?

Leah's aunt, Melissa, crocheted this beautiful dress for her.

Ever since Leah came into our lives, it's seemed like one adventure after the next—at first it was hard and stressful but lately Leah has blessed us with some fun adventures. She's definitely found her smile. She smiles at everyone all the time except for when she gets mad at her dad but that is sometimes cuter than her smile.

Leah is finally gaining weight! She's up to 7 lbs and 5 ounces. We have to keep track of how much she eats and we're supplementing her milk with formula but she's finally gaining weight very well. We love seeing those cute little fat rolls start showing up.

We've been working hard to perfect tummy time. She usually works on it a few minutes a day and her neck is getting really strong. We also play this game where we put our hands by her feet and she pushes against them to propel herself forward. She's really good at this game. Leah really loves moving around and being active.

Finally, whenever we put Leah on the floor to play by herself, she's constantly trying to roll over. I don't know why she does this because usually when she does roll over, she gets mad that she's stuck on her tummy. It's so cute to watch her working so hard on it all the time. Most of the time her arm gets in the way and she gets frustrated. She'll get so close to rolling over but her arm will be in the way and she'll roll back over to her back. But she's gotten a lot better at sticking with it and making it through. Here's a video of Leah finally getting that arm out of the way:

Now if you watch this video and are saying to yourself "My child is older than 2 months and he/she hasn't rolled over yet." Don't worry Leah is kind of like an x-men. She has a genetic mutation that allows her to be extra-special. Most likely your child will learn how to read or walk or talk before Leah but she has the rolling over powers.

Last, we want to point out some silver linings of having a child with special needs.

First - You can brag about your kid without getting other people mad at you. Leah is an orange in the midst of apples.

Second - An iPad is in our future. There are some great apps for special needs children that help them learn how to read. The iPad is very easy to learn how to use and has been used a lot while working with kids who have down syndrome. David has been working really hard to convince Chanae to let him get one and he finally found a good enough reason for her to agree.

Third - With all the training that we are getting with Leah, having more children doesn't scare us as much.

Leah 2.0: Updated and Wireless

It's been a while since I wrote anything and a lot has changed. This post will have a lot of information in it. Hopefully you can remember your high school biology because we learned even more about Leah's genetics.

Leah has made some big milestones. First, she finally weighs more than 7 lbs. That means that she is as big as most kids are when they are born.

Second, she is off oxygen!

It's amazing how happy a baby can be when they don't have stickers on their face and a tube up their nose. Leah is beginning to smile more and scratch her face less. We are all very excited. We were expecting her to have to be on oxygen until the surgery (6 months). But at our last appointment with the cardiologist, he decided to check her oxygen saturation levels without the extra oxygen and see how she was doing. They put a little monitor on her foot and turned on the machine and it said that it was at 70. It should be in the 90s. They also didn't like how low her heart rate was so they decided to try a new monitor. As soon as they put it on her it showed her in the 90s. We fed her while they monitored her and she did great. We did an over night test a few days later (which she passed with flying colors) and now no more oxygen. We are keeping her on the heart monitor just to be safe but that doesn't bother her so much and we are no longer tripping over chords everywhere we go.

We blessed Leah in church last week. It was interesting because usually when you bless a baby you talk about how they will get married and go on a mission and have kids and all that stuff but Leah might not do any of that. So she was blessed that she can be happy and know how much we love her. It was simple but applicable to her.

Ok, now on to the complicated stuff.  In the last post, we mentioned that Leah had Translocated Down Syndrome. This is what we were told. It means that her extra 21 Chromosome was attached to another Chromosome. Yesterday, we went to see a Geneticist at the University of Utah Hospital. She asked me what we already knew and I told her. She corrected me by informing us that Leah has Down Syndrome and a Translocation. They are two separate things.

Let's start at the beginning. Our bodies are made of cells and the cells are made of Chromosomes. Each person has 46 Chromosomes. 23 from Mom and 23 from Dad. So we have 23 pairs of Chromosomes. Each pair is numbered 1 through 23. Leah has 47 Chromosomes—23 from one parent and 24 from the other. So she has a pair of each chromosome but she has 3 of number 21.

Now on to her translocation. Translocation is when chromosomes get mixed up. Part of 2 Chromosomes switch places. You still have all of the Chromosomes that you need but they just aren't in the right place. In Leah's case part of her number 1 is attached to her number 4 and part of her number 4 is attached to her number 1.

In a normal person, their chromosomes would look like this:

1  1    4  4
1  1    4  4
1  1    4  4
1  1    4  4
1  1    4  4

A perfect pair of 1 and a perfect pair of 4.

Leah's genetics look like this:

1  1    4  4
1  1    4  4
1  4    4  1
1  4    4  1
1  4    4  1

Notice how all the chromosomes are there. They're just not in the right place.

Now Chromosome pairs are not found side by side like this but it is easier to understand this way. This does not affect Leah's down syndrome whatsoever. But here is why it is important: It is very common for this translocation to be passed on genetically. Either Chanae or I could have this same translocation in our body. We don't know it because we have the different Chromosomes that we need they are just a little mixed up. However, like I said, children get 23 chromosomes from dad and 23 from mom. So in order to give these 23 chromosomes, a cell made up of 46 needs to separate. When it separates it is completely random which chromosome from the pair is given away.

So let's say that one of us does have translocation in our genetics. When the cells separate and then recombine to make a baby there are 4 different combinations.
   
 Parent 1          Parent 2(Translocated Genes)
1  1    4  4       1  1    4  4      
1  1    4  4       1  1    4  4      
1  1    4  4       1  4    4  1
1  1    4  4       1  4    4  1
1  1    4  4       1  4    4  1

     A
1  1    4  4    In this case all 4 good chromosomes came over and
1  1    4  4    there is no translocation in the baby
1  1    4  4
1  1    4  4
1  1    4  4

     B
1  1    4  4   In this case 2 good and 2 abnormal came over but   
1  1    4  4   there is no effect. Translocation has occurred
1  4    4  1   but it is balanced.
1  4    4  1
1  4    4  1
                  

   C
1  1    4  4   This one has too much of 1 and too little of 4.
1  1    4  4   Results in unbalanced transloaction and can
1  1    4  1   cause severe birth defects or most-likely a
1  1    4  1   miscarriage.
1  1    4  1

   D
1  1    4  4   This one has too much of 4 and too little of 1.
1  1    4  4   Results in unbalanced transloaction and can
1  4    4  4   cause severe birth defects or most-likely a
1  4    4  4   miscarriage.
1  4    4  4


I hope this doesn't confuse you too much.

It is not guaranteed that it is genetic. This could have happened randomly and Leah is just a genetic marvel like the x-men but that is rare. If we get tested and find out that one of us have it then our siblings may also have it. That is where the problem is. To get tested it is about $3,000 a person and that is with a 30% discount. Medicaid doesn't cover it. But what are we getting tested for? We are testing to see whether we will have a hard time getting pregnant and what our risk of miscarriage is. Won't that kind of reveal itself to us as time goes on? It is a tough decision that we haven't made yet.

We also found out that our chances of having another baby with Down Syndrome is 3.5 times higher than the average person. The only reason for that is because statistics have spat out that number. In reality we don't have any different odds than anyone else except for that if it can happen once it can happen again.

2 months ago I had no idea what Down Syndrome was, how many Chromosomes were in a human cell and I hadn't even heard of translocated genes. People always said that children will teach you a lot but this wasn't exactly what I had in mind.

Still, Leah is the cutest little girl and we love her more than I could have ever imagined. This week I went to scout camp for the week and I leaned 2 things. First I leaned that I really miss my girls when I am away and second I learned that girls are way better than boys.