Sunday, July 25, 2010

Mosaic Trisomy 18

I want to share the story of my beautiful daughter, Ava, and her diagnosis of Mosaic Trisomy 18 so that someone else out there looking for information may stumble upon her story.

My first experience with Trisomy 18 happened when I found out that one of my brother in law's best friends was expecting a child with T18 several years ago. They were told that the likelihood of their child surviving to term was small, and that if she did survive, her lifespan would be very short - as in weeks. They put their faith in God and chose to continue their pregnancy, a decision I so respect and admire. Their daughter, Claire, was born and they kept everybody informed about her in the most beautiful blog. I remember reading it everyday and I was so moved by their little Claire and the love that they had for her. Fast forward approximately 4 years - April 2010, I get the news that my 6 year old has Mosaic Trisomy 18. The first thing I thought of was little Claire and her short, beautiful life. The difference was that Claire had full Trisomy 18 and Ava was diagnosed with mosaic Trisomy 18. I searched all over the internet for information, but Trisomy 18 is very rare and mosaic Trisomy 18 is even more rare. So, while there is no plethora of information about Trisomy 18 (T18), there is next to zero about mosaic T18. T18 (Also known as Edward's Syndrome) is a genetic disorder which results when a person has 3 #18 Chromosomes versus the normal 2 in every cell. In mosaic T18, there is an extra #18 chromosome in only some of the cells. Geneticists can get an idea of the percentage of cells affected by blood testing, but from what I understand, this doesn't necessarily correlate with severity of symptoms. The only way to know which cells are affected are to test all of the cells, which obviously, is impossible. Of course, symptoms can give them an idea of what body systems are affected. Basically, anything that is wrong, you blame on T18. Ava's blood work came back showing that 50% of her cells are T18.

We adopted Ava when she was 3 1/2 from China November 2007 (that story starts here). She was on the special need's list for adoption because she was born with ventricular septal defect (VSD - a whole in the wall between the ventricles of her heart), but that had been repaired in China when she was 18 months old. In her medical report they also mentioned some muscle tone problems and difficulty walking. When we were first introduced to Ava, she did seem to have some balance/walking issues. We had her evaluated pretty quickly after getting her home and found out that she was globally developmentally delayed and immediately started physical therapy, occupational therapy and speech therapy. At the time, we were still thinking a lot of her issues were environmentally related, which I'm sure was our wishful thinking that we could quickly catch her up to her peers. We took her from specialist to specialist, having her poked, prodded, scanned - you name it, to thoroughly check her out to make sure there were no medical issues causing any of her delays. We never really found any answers so we just kept up with her therapies. She was progressing, but it was much slower than expected. We finally found a developmental pediatrician, that another parent raved about, and she thoroughly examined Ava and listened to all of the issues, both cognitive and physical, that Ava had. She tested everything that came out of Ava's body - well, the blood had to be taken. We finally had a diagnosis! It wasn't necessarily what we wanted to hear, but we were glad to have answers. Now the main reason I'm writing this is not so much to share the journey, however, it has taught me to trust my instincts as a mother and to keep searching for the right doctor that will listen to me, but to share with you how mosaic T18 affects Ava's life. Mosaic T18, like I said before, is unpredictable in how it is expressed because it depends on what cells have the extra chromosome. This is how it has affected Ava's life, but another mosaic T18 child could be completely different.

Ava is 6 years old and is diagnosed with general dyspraxia (motor disorder), verbal apraxia (severe speech disorder), cognitive delay and malabsorption. She goes to a school for children with special needs, but if she went to public school, she would probably be in either a special need's kindergarten class or an inclusion class with assistance. She does not speak very well (mostly one word sentences), but she understands simple directions, knows her letters, colors, and some numbers. Most of her fine motor, gross motor and behavior are on about a 3 year old level. She is progressing on all of these areas, but it is slow. We still aren't sure what the future holds for her, but we want to give her every opportunity we can. As far as her malabsorption, she takes medication before meals as well as probiotics and supplements, but she eats a regular diet. Ava is a sweet, loving child. I can't imagine our lives without her.

Saturday, June 20, 2009

Ava's Dance Recital

Ava had her first dance recital tonight. Ava loved it! It was hilarious to watch her. She loves to dance and any time she hears music, she has to dance! At the end of the recital, they had everyone sitting down on the stage to acknowledge some of the dancers. They started playing music and Ava got up and started dancing. She was the only one on the stage dancing, but they couldn't get her to sit down. We also saw her trying to get on the stage during a couple of the other dances. I had several people come up to me after the show to comment on Ava's performance. Here is the link on you tube.

Here is the link to her at the end of the show. I didn't get video of her at the beginning because I didn't know she was going to get up and start dancing.

I am so behind on posting on here. I have a lot of pictues to post. I'll try and do that soon!

Thursday, April 9, 2009

"I Love You"

Ava goofing off with Grandma Nora's glasses

The sweetest three words I've ever heard. Yes, I heard them from Ava!!! Most children Ava's age (she will be 5 in May) have been saying these three words for several years. Ava has verbal apraxia and has not said more than one word at a time until this past week. She is so proud of herself and so are we. Ava, we love YOU!

Thursday, March 5, 2009

Snow Day

This past Saturday Peter and I were in the car together and he mentioned something about the radio saying there would be snow tomorrow. I told him that I didn't hear what was said, but they were probably talking about somewhere was in the 60's on Saturday. Well obviously, he heard correctly...

Ava loving the snow

Mom going for the weak

Peter throwing a snowball at mom

Daddy and Ben building Bob

Ben, Bob, and Daddy

The next day the kids had the day off from school because of the snow. Ben was prepared for the arctic winds (It was in the 40's with the sun shining). Ava snuck out with him with no jacket, one of my gloves, and a pair of my socks with my crocks. She loves to be outside and she loves the snow. Peter was outside for maybe 10 minutes. One of Peter's quotes is that he likes winter because you don't have to go outside.

Wednesday, February 18, 2009

Fun with Josie

Jessica and Josie came and spent the week with us last week. We had a lot of fun visiting. The kids really had a good time with Josie and were sad to see her go.

Ava and Josie were holding hands on the way to the American Girl store

Ava loved the American Girl store...she took out the doll that was in this stroller so she could push her doll around. I didn't think we were going to be able to make it out of there without the double stroller.

Ava feeding "Lilly" some noodles

Josie feeding "Itty Bitty" some celery

Atlanta Zoo
The girls checking out the flamingos

Peter posing with Josie

Saturday, February 7, 2009

Pinewood Derby

Ben with his 2nd place trophy

We had our cub scout Pinewood Derby today and as you can see Ben won second place. Ben and Derek worked hard the last couple of weeks cutting, sanding and coming up with an idea for his car. Ben's car was called the "death squad" . Peter, Ava and I did not go but I did text Derek when I thought they should be done and he said that Ben did ok. Ben didn't want Derek to tell me about his trophy. When he came in, he walked into the living room with the biggest grin on his face and the trophy in his hand. He was so excited that he won.

The Death Squad

Off to the race

Ben and his friend, Jason


Monday, January 26, 2009

Merry Christmas, Happy Chinese New year, and Happy Birthday!

I wrote this about a week ago and was waiting to get my video to upload before I posted it. Well, that hasn't worked so here it is!

It has been a long time again since I have posted. But here are some photos of the past month. I have a few photos of Christmas. For some reason, we didn't really take a lot on Christmas morning, but we did do some video. We went to Derek's parent's house Christmas day and then we went to Gulf Shores to visit my family the day after Christmas. We were at the beach for about 10 days. As usual, I wanted to pack up everything and move to Gulf Shores after our visit! We are going to have to find a way to get Chapman Drugs down there!! The kids are at such a fun age to celebrate Christmas. It was a lot of fun this year.

Gross boy tidbit: Ben said today that he wished his nose was a cave and he could pick out the stalagtites and the stalagmites ! Are all boys this gross???

The kids ready to go downstairs to see what Santa brought

Ava admiring her new blowdryer

The boys sitting in their new chairs and showing off some new "stuff"

Ava enjoying grandmama's Christmas cinnamon rolls

The weather was great!

Ben loves to chase the birds

Peter didn't bother going where the water was shallow to get to the sand bar

I love his happy face in the picture

The boys love the beach

The start of our massage train

Is Ben going to join us?

Fun at the condo

Happy Chinese New Year
Jonathan and Susan came over with their girls so we could celebrate Chinese New Year. We made dumplings, decorated with paper lanterns and dressed the kids up. We had a lot of fun. We were not very successful in getting a group picture.

Ava checks out Eleanor

Ava checking on LilyKate

Oh well...not looking good

Happy Birthday Ted, Lee, Derek and Christa

The birthday group

Daddy and his little girl

Lee opening his exciting birthday presents

Ted with his Georgia shirt and black and red gift bag

Ava helping Christa with her presents

My boys

The wild party crew...I didn't get the one of them dancing on the tables.

Ted, Jaime (with baby Tripp) and Terry

Awards Day at St. Johns

Peter got the responsibility award this semester at school. We are so proud of him. Ben was upset that he didn't get an award also. I told him that next year he will be eligible for honor roll and Principle's list since it is the first year he will get "real" grades. They also get acknowledged on awards day. Maybe this will motivate him to keep doing well in school.

Peter receiving his award from Ms. Vogtner

Peter and the other kindergarten award winners