Monthly Archives: June 2016

I hope my children have learned…

Standard

Actions, not words, define a relationship. Words are easy….actions are real. 

Twenty years ago this man vowed, through the life altering curve balls…he lived his vows.

He is the one thing I did right when I was in my 20s

😘

(Thank goodness that bar fling got way out of hand)

A post Dr N debrief….

Standard

A Danny update 

(This is not a professional description, just a momma passing along what we learned from the DNA testing.)

Based on Danny’s clinical presentation, the lab doing the genetic testing nailed down five different mutations Danny had that might have been the culprit. The TRAPPC9, GRIN2B, FOXP2, and two different variants of the KIF1A (both were on the 2 chromosome but in different locations. 

Hugh and I also submitted DNA to be run against Danny’s to continue to narrow down the information. 

GRIN2B and the FOXP2 gene was from me, not Hugh. And he had the TRAPPC9. 

But interestingly I had one variant of the recessive KIF1A and Hugh had the other. 

You know what makes a geneticist excited??? This. 😂

There isn’t much literature out there on the disorders that this gene causes. But Danny does fit a mild version of clinical presentation.  However, we also have confirmed mitochondrial dysfunction from his muscle biopsy ten years ago, which is a symptom not previously identified with KIF1A

So what does that mean?  

It means we have the genetic smoking gun as to why d is the way d is.  

We are going to run another test on blood out of the same lab in a few months to determine what Danny is missing from a biochemical standpoint and supplement what else we are missing.  To have more than “mom reports” benefit of the supplementation. To have the deficits recorded in a no one can argue it scientific test and to continue to identify clinical presentation. 

This is the first time that we’ve had a definitive test result in 10 years. The last one was his muscle biopsy. 

For Danny’s family, do not Google this mutation. The stuff that out there is very limited, incredibly scary reading and those folks did not present like Danny does. Like Dr Pam said yesterday, it’s Danny doing what he does by continuing staying on the cutting edge of science. 

Because of that we are defining what this particular condition looks like.  And as soon as there is a second kiddo out there like our d on both a genetic and clinical presentation we are off to the races.  

I had gotten used to docs continually ruling things out, to have a specific direction moving forward is a unique place to be.