Friday, June 3, 2016

Amazing night

Look at all of the MOVIE STARS in this picture!  OK, maybe you don't see  Justin Timberlake or Ashton Kutcher, but they don't hold a candle to these people. No offense Justin and Ashton, but here is a group of top notch medical professionals that may change the world some day.  Superstars in my eyes, for sure.

This incredible group of people came to our house to observe and interact with Katie.  From left to right: Paul, Me, Katie, Isabelle (TGen Scientist), Keri (TGen Nurse), Dr. Swanson (Northwestern University Scientist), Dr. Guzman (Northwestern University Scientist), Chitra and husband Dr. Narayanan (TGen Neurologist), Sampath (TGen Scientist) , Kavitha (TGen Scientist) and Newell (TGen Clinical Research Coordinator).

To have these people in my home was surreal. Thank God Katie took a decent nap that day and was in a very good mood.  She was bringing them toys, giving lots of hugs, scratching backs... it couldn't have gone much better.  It was nice that they got to see her in her own environment, doing the things she does and acting like herself - imagine a few very loud screeches of happiness and even a quick bit of dancing (by Katie) before they left!

The scientists from Northwestern study kainate receptors and this is an issue with Katie's gene mutation. They came in town to tour TGen, meet the staff and to see us.  I asked Dr. Swanson about the other people who have the mutation and he said no one else has this exact mutation, just Katie as far as anyone knows. These other people who come up when I search the internet for GRIK2 mutations (Glutamate Receptor, Ionotropic, Kainate 2 which is a protein coding gene)  have a deletion or some other issue on this same gene, not a mutation like Katie's. I knew my kid was one of a kind, but jeez!

This was a very casual meeting and I think seeing Katie in action was such a benefit. I was asking Dr. Swanson if he can test the mice (once they are ready to be tested) for things I notice about Katie such as she has never scratched an itch, or if her hair is in her face she will not brush it away, ever. He said yes, he thinks he can.  I will have to make a list of her idiosyncracies and email them to him.  Pretty cool he can test for those things once the mice are ready.

The main thing I took away from this meeting was how much and how fast science is advancing.  I hope that in the future Katie and others can be helped by the new advances science might have to offer.  I'm realistic and not expecting miracles, but still, hope is what keeps us going!