Thursday, October 24, 2013

Whole Exome Sequencing

First, the email I sent out brought us so many connections. We have a list of doctors we want to see and new avenues to take. Thank you to those who went out of their way to help us and even just to reach out to me. It means more than I can express here.

Last week, we saw Dr. Iglesias, Pediatric Geneticist at Columbia University Children's Hospital. It's actually called Morgan Stanely Children's Hospital. Anyway, he was great. He spent a long time with us, discussing everything we needed to discuss. I went there knowing I was interested in doing the Whole Exome Sequencing test for Josie and that is what we did.

Whole Exome Sequencing has not even been around for a year. It is a breakthrough in science that is leading to the discovery of many undiagnosed genetic disorders.

In simple terms, the test looks at every single gene in the genome - all 21,000 - and can tell us which, if any, have anything wrong. Then they can compare that information to the database and see what it means. So say they found Josie's gene #5032 had a deletion, they can look to see if there is a record of other people with the same gene abnormality and ask, do they present just like Josie? It could just mean she won't have freckles. There is also the chance they find gene abnormalities, but there is nothing reported in the database about that particular gene. In that case, we are contributing to science.

The results will take about four months, so we will wait and continue to press forward. In the mean time, we were supposed to see a new neurologist this week, Dr. Molofsky, at Beth Israel. He had to cancel so we are waiting for our new appointment date. I was thrilled when Dr. Iglesias said he had worked with Dr. Molofsky in the past and he will call him after we see him so the two can discuss. He also recommended we see another neurologist at Beth Israel when we are there, who specializes in movement disorder.

Dr. Iglesias pointed out that Josie has Dystonia, which we know, but I don't believe I've written about it here. It's a significant descrition of her presentation. Dystonia explains her repetitive movements. Potential causes are genetics, birth trauma, and/or a reaction to pharmaceutical drugs. Oy. These uncontrolled movements are also called Ataxia. I can't quite figure out the difference.

On a side note, Josie was a trooper when they poked her little hand with a needle to draw blood. She didn't even cry! Tough cookie.
Meanwhile, she's very busy with her therapists. Our team is amazing! In fact, we had a team meeting last night and everyone agrees Josie is showing progress. They all also agree she is so determined! She laughs all the time and makes everyone around her smile. Stacy, Josie's OT said last night with such conviction, "She is just the best."

Some Recent photos:

We got Josie's gait trainer! Thank you, Early Intervention! She is already starting to move her feet and take steps on her own - mostly backwards, but that's where it starts! And she loves seeing the world from this standing position - where she should be at this age.

A few months ago, while sitting on her own, Josie would fall forward and could not pull her body back up by herself. Now she is pulling herself back up! She still needs to master side-to-side, but front-to-back has come a long way!

It's a pumpkin on a pumpkin!!

You can't tell here, because taking pictures isn't Tanner's idea of fun, but he had so much fun pumpkin picking! It was a perfect Fall day at the farm.