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.