The Right Path

I believe I have said before that our journey has entailed twists and turns that in the end seem to be of divine intervention.  This latest path is no different.  Just like the others I went sort of kicking and screaming, but now that I am on that path I am thankful I was directed that way.

Friday morning we made our way to Lucille Packard's Children Hospital to the department of Neurosciences.  I confessed on our way that one of my fears was actually that this Dr. Seeing Jasz for the first time after he is so much improved will take one look and tell us we've wasted his time our son is fine.  I told John ,"then we look like crazy people."  My wonderful husband responded with, "then we just say, thank-you our son is healthy and be one our way!"  Yep our outlooks are different, he would be happy being called crazy if it meant our son had no more worries.  Once he put it that way I relaxed.

We met with Dr. Lee-Messer and he spent about 2 hours with us.  Not once did he deny our son has something going on.  He did a cursory exam and asked a ton of questions.  He tested Jasz' reflexes and found what everyone else has found...they react about one in ten times...very hard to get a reflex.  He looked at him and said, "you are a tricky one aren't you?"  He said he could tell based on the tilt of his pelvis and how he holds himself that he is low muscle tone.  He asked us if anyone had mentioned Mitochondrial disease before.  I am not sure if I updated after our last visit with Dr. Carter, but that is what she suspects also.  So, now we have two neurologists suspecting the same disease.  Here is a link for more information on Mitochondrial disease:  http://www.umdf.org/site/c.otJVJ7MMIqE/b.5692879/k.3851/What_is_Mitochondrial_Disease.htm

He then went through a litany of tests asking if Jasz had had any of them, including an MRI, a muscle biopsy, an ECG...  None of those have been done.  He mentioned he was surprised that an ECG hadn't been done considering usually things that affect the skeletal muscles often affect the heart.  So he ordered one up.  He also asked about genetic testing.  Well Jasz did have genetic testing done and that was the test that showed a deletion on one chromosome and an insertion on another.  The lab who runs the test actually recommended that John and I get tested as well to better ascertain the significance of the test.  This information was not told to us.  Dr. Messer thinks we should get tested because if we exhibit the same anomaly it is unlikely to be related to Jasz' muscle issues.  He did tell us to exercise caution when deciding to get the test as it could have consequences for our ability to get health insurance coverage.

He thinks a less detailed test specifically testing for Mitochondrial disease would be a good idea.  But what he really wants to do is look through Jasz' test results more closely and discuss it with his Colleague's in the genetics department.  Then meet with us again in January.   

Some other points that he brought up are Jasz' changes in strength and ones sided weakness being intermittent can be a sign that this is something affecting the brain.  What i feel good about is now we have a new team of Dr.'s added to the puzzle that is my son.  Since it is such a large hospital with so many specialties, other experts can be consulted where necessary.  I also appreciate that Dr. Messer is not jumping straight to invasive tests, he is taking his time to insure we get the right answer.  He even suggested that a muscle biopsy may not even be necessary.  How nice that we get another Dr. who is of a similar mindset in terms of testing, just because you can doesn't mean you should. 

John and I wonder a little at an ECG not having been done before considering how easy it was to do and how much it is indicated in cases like Jasz'.  Also the idea that, the genetic test results haven't been looked into more.  These are just questions in our head but may be more of a factor of what each Dr. has at their disposal. 

After spending about 2 hours with Dr. Messer we had lunch and took Jasz over for his ECG.  This was a way faster test than I thought it would be, and Jasz did really well!!  We did not leave Stanford until the afternoon and we were wiped.  I was amazed at how that trip exhausted me.  I think all the unknowns leading up to the actual visit took their toll.

In the end, I am glad I was dragged down this path.  We have more specialists available to us now and i feel we are getting closer to an answer.  Something Dr. Messer said really made me feel good.  He said that we have done all the right things and have made good decisions for our son.  He also said that the fact of how well Jasz is doing is a testament to who we are as parents.  Wow, that was really nice to have that affirmation. 

I guess we are left with some decisions to make, which is not something new on this journey.  We are also left with the knowledge that we have a Dr.  Leaving no stone unturned in searching for an answer for our son.  Thank-you God for the people that have been put in our path in the timing they have...what a blessing!!