Tuesday, November 10, 2009

Neurogenetics Puzzle

Yesterday we spent the day at Children's in the neuro-genetic clinic.

We sat and talked and talked with the doctor and her staff for at least an hour. They asked many, many questions and I did my best to answer them all. Brayden is a mystery.

The doctors are looking into a diagnosis for Brayden, perhaps a syndrome or something.

Brayden has many random puzzle pieces that do not fit together.
  • He does not sweat.
  • Not great body temperature regulation. He gets a fever if too hot. In the winter his hands and feet get purple from being too cold and then his body tried to overcompensate and turns him bright red, swollen and hot.
  • He does not have tears when he cries (he is starting to but not very often).
  • Pancreatitis (possibly two cases) that cannot be explained.
  • Slow motility, if at all with his stomach.
  • Of course the vomiting.
  • The vomiting getting worse.
  • Seizures.
  • Lots of brain abnormalities, parts are missing and others are abnormal.

Did his brain not develop or was there something that has happened to cause damage? At first they thought a trauma happened in utereo that stopped development and damaged things. Now they are leaning towards it did not develop at all/developed abnormal.

We are looking for some answers because we have always been reactive...waiting for him to vomit blood and then we take action. He looses too much weight...then we do something. We go to the hospital, adjust medications, formula...all a result of something bad happening.

If we have an idea what Brayden is dealing with then we can be more proactive...possibly doing the ketogenic diet...rather than waiting for something bad to happen only do a temporary fix.

Lots of blood work was done yesterday, looking into metabolic disorders, gene and chromosomal abnormalities. It will take a couple of weeks to get the results.

Brayden is a puzzle.


Shannon said...

I love your philosophy in going down this path. Well stated. I hope your experience with the genetics staff was positive. That is my favorite department at Children's.

kirstenpetree said...

I hope you have answers very soon!

Wherever HE Leads We'll Go said...

Praying that you get some answers! I totally agree with you - if you have a diagnosis, then you will have a better idea what course of action to take with Brayden. I would imagine that being in "reaction mode" all the time can really wear on you.

The Bilslands said...

I know it has to be frustrating not having a diagnosis... Praying that you will get some helpful answers!! =)