Friday, June 19, 2015

glutamate receptor, ionotropic, kainate 2

Ok, so Katie does have a mutation or two in the GRIK2 gene! Yay!  I'm so happy!

GRIK2 stands for  glutamate receptor, ionotropic, kainate 2.  I don't know what the 2 is for.  Actually the whole thing is a bit Greek to me but luckily we seem to have found the best doctors on the planet, seriously! The BEST!!!

I must give credit to Dr. Radoff as he is Katie's naturopath and has her on B12 shots which do seem to be helping her with speech somewhat (Mama, Dada, yeah) and her balance is really much better. He is such a wonderful and caring Doctor.  He really wants to help Katie, has helped us immensely and really listens to my input etc... cannot recommend him enough!

We saw Dr. Narayanan at T-Gen a week ago and he says that yes Katie has two mutations on her GRIK2 gene and that they know exactly where one is located and it does not affect her, the other is what they have been having a problem with, identifying exactly where it falls. However, they think this is probably what is affecting her - it is the only gene mutation that showed up on her genome mapping that could affect her. Other mutations showed up but when compared with Paul's and my genome mapping- they are not affecting her. I know that's confusing but that is what science is, right?

Dr. Narayanan's nurse Keri, contacted a Doctor in Chicago who specializes in researching this GRIK2 gene.  Looks like he has written over 100 papers on it and I think this is our guy!  I'm not sure how one decides to become passionate about a particular gene, but are we ever lucky that this man is all about the GRIK2! I am sure he is extremely smart and when I see his picture, he looks like such a nice person. And he is very interested in Katie's case!  YES!

 The next step is to get a skin sample from Katie through T-Gen (oh that will be fun!) I did ask if they could sedate her for it but that is a no. So it will be a screaming and spitting fight! You should see her at the dentist, I come out exhausted and sweating..

So according to Dr. Narayanan they will send the skin sample to this Dr. in Chicago and he will -in layman's terms- turn the cells into neurons and then see what the problem is with the neurons.  Are they taking in too much protein, not enough? At least this is my understanding - I could be wrong.  Maybe this Dr. in Chicago has a different idea. Who knows, maybe they can figure out the problem with these cells and try medications to see if anything can make it all function appropriately.

At the least we have an idea of what is going on with Katie - and I've got hope and that is what matters.  There is hope for our sweet girl!