Tuesday, July 1, 2014


I believe somebody upstairs thought that a little bit of patience needed to be tested out on someone down here and that lucky person is ME! (that was sarcasm).  Actually, I guess I am lucky.  Lucky that there is a bit of hope for Katie even if it comes with having to have a whole lotta patience!

So, in March the doctor at T-Gen reported that he thinks the researchers have found a gene mutation in Katie. Now, they are re-testing to make sure. Here is the info I received in an email:

He's been running into some problems sequencing the gene.  He has run the assay twice and the data has still been poor quality.  This can happen if the DNA sequence length is long, or based on the nucleotide pattern.  The quality of Katie's DNA is good.  He's talked with another Dr. in the lab on how to troubleshoot the problems and they're working on it.

I will wait.

I will be patient.

I will have hope and assume the best will happen for Katie.

And I will not bug T-Gen more than every three months.

So here is the cool part.  If she does have this specific mutation (which is rare), T-Gen will take some of her skin cells and grow them into these particular cells that are not functioning properly (I am picturing a petri dish) - Oh yeah, I forgot to mention that if she has this mutation, then some of her cells (neurons I think but don't quote me on that) are not functioning properly. Then they can see (via petri dish I am assuming) what the actual problem is with these cells, and THEN they can try different medicines to see if there is any way to help these cells to work right!  Is that not the coolest thing, ever?!

I love everything about T-Gen and what they do.  These people are the nicest most caring people you will find.  Paul and I took a tour of the lab last week and, man, was it interesting!  They have five machines that sequence the DNA for like a month, and each machine costs about a million dollars and has a life span of about 3 years. Crazy! In March, Katie's neurologist Dr. Narayanan who heads up this study for kids with no diagnosis, and his nurse, Keri explained Katie's current results to us.  They are the type of people you'd like to have over for dinner. Well, in my case take-out would probably go over a little better - but seriously these are great folks!

So this is as much as I know.  I know they are working on Katie's results and I hope we find out soon that she does have this mutation.  Then there is a good reason to hope that maybe they can help her. No one knows for sure. And if not, we are so very lucky to have this funny and wonderful girl in our lives! Either way we win!