Tuesday, January 6, 2015

It's a start

I got started on the new pre-authorizations for this year and referrals so we can get back to finding solutions to the heart problems.

Our family doc is slammed this whole week, not an appointment to be had so we decided to go down after school and be a walk in.  Bleh...so many sick people!  The entire office smelled like Vick's and Virus.  I begged Sam to wear a mask but he would have nothing with that.  We compromised with an agreement that he would keep his hands in his pockets and not touch one single thing.

(I know, I'm getting a little weirded out with all the illness around! But in my defense, even the doctor said he didn't blame me and said he has never seen such a horrible year for viruses. And given the fact that Sam has about 1600 white blood cells to protect his entire system...Anyways...)

We waited for over an hour.

It's a lot harder to go to the doctor's than it use to be.  I get so anxious because everything feels so complicated.  Especially today, trying to explain all the insurance mess and why we ended up at the Pulmonologist in the first place.

There are three providers at the clinic we go to and I don't usually request one because they are all competent but it so happens the doc we got tonight, actually hasn't seen us in almost 2 years so he was way behind on what's been going on.

It wasn't the best visit and I left feeling a little bugged and almost patronized which is never a good feeling but I will save that for another blog.

He did make me think about some other avenues I haven't researched though and after work tonight, I have been reading up on lots of different possibilities.

He thinks we are being too worried about the heart problems.  I don't think we are.  If Sam wasn't having mini strokes and lung pressure and right chamber heart pressures that are off the charts, I probably wouldn't be as upset but that is not normal.  Even if the hole is tiny, something is causing the pressure and blood regurgitation as well as abnormal oxygen and carbon dioxide exchanges.

So, I did what any mom would do... and started researching abnormal oxygen exchanges, lung diffusion abnormalities and Dyskeratosis Congenita.  ;)   I found a study where they discovered that abnormally high lung diffusion can be a sign of liver failure.  Liver failure is a common problem in children with Dyskeratosis Congenita.

Looks like this might get interesting...

There is no doubt in my mind that there is a reason we have been led to this point from entirely out of the blue.  Sam literally had no recognizable symptoms until that pulmonary testing and that one number has opened a huge can of worms.  There is definitely something that God wants us to find in order to help Sam be in tip top shape so he can continue his purpose here on earth.

Maybe it is just the tiny hole that needs to be fixed.  Maybe one tiny hole can disrupt the entire system, more so than what most people would experience.  Maybe it's the tiny hole that will actually lead us to a more serious problem to be addressed.

I keep thinking back to a close friend I had two years ago.  He was suffering with a kidney pain.  He went to the hospital and they discovered he had a stone.  The stone was big enough that they decided he would need surgery.  When they went in to retrieve the stone, they found out he actually had Kidney cancer.  That stone saved his life!

I kind of feel the same way about Sam...It's just not entirely clear yet.

In my research tonight, I also found an interesting study where a handful of families had boys who had been confirmed to have DC but the daughter did not, though had most of the symptoms.  They discovered that the girls had random X- deactivation in the white blood cells.  So, in lay person terms, one of her X-Chromosomes actually had the DC mutation and rather than the good X taking over, the mutated X was activated only in certain parts of the body!  So...She really did have DC, it just never showed up in traditional genetic testing.  I feel pretty sure this is what is happening to Shelbie.

There is so much to do!  And...Spencer has been really sick again since last Wednesday!  I think he is feeling better today but his illnesses are getting to be too frequent.  It's a rough winter for sure!

I am hoping that tomorrow, I will be able to connect with Hematology and Immunology in Seattle, Pulmonology here as well as Oncology so we can move forward on Sam's issues and Shelbie's transfusion next week.

It's all in a days work!
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