Saturday, April 8, 2017

First the Famine

Nearly two months we go without any direction or follow up from our doctors and now, my phone won't stop ringing.

And...in keeping with my usual response, I feel relieved, scared, stupid, anxious and all sorts of everything.

Today, our Hematologist called a couple of times.  I missed the call both times because I was out on a job site.  It wasn't until late afternoon when I was able to call him back.  He has been a busy man.

He had a conference call with Dr. Giri at the NIH.  He had a conference call with Dr. Ghadir at Texas Children's, and a conference call with Dr. Shimamura at Boston Children's.  Those doctors brought up with Adenosine Deaminase Deficiency 2 and feel that it would be prudent to do the genetic testing for that rare disease.  The only problem is, there is only one doctor at one lab who as the ability to test for this disease.

So...our doctor had a conference call with him, Dr. Hershfield from Duke University.  Dr. Shami suggested I read this doctors website so I did.  He's the guy we want if Shelbie has ADA.  Man, he has spent his entire career studying the biochemical mechanisms of the immune system.  He said he would be willing to test the kids in his lab.

Dr. Shimamura has offered to start the whole genome testing on our family in her lab at Harvard.  The advantage to using her lab is that she runs our blood herself.  At NIH we are in a que and still waiting. She is also going to proceed with more mitochondrial deficiency testing.

I trust Dr. Shami completely.  I honestly don't know how he had so much time to give us.  I am humbled by his efforts.  I asked him what his thoughts were after talking to all these doctors and he agrees that the Adenosine Deaminase is a possibility and we should move ahead on that.  He is perplexed and worried about the brain situation that keeps coming up.

So, the plan is that the first week in May, we will go down to Huntsman and they will draw blood and get everything Boston and Duke need to begin the testing and then we wait...  The boys will do additional testing with our Immunologist at the U while we are down there.

I feel almost embarrassed.  I have friends in my 'chronic' circle who can't even get one simple test approved.  They even fight to get the attention of any doctor let alone the caliber of scientists we have now.  It's actually hard to believe; rare just like the disease.  These are huge blessings even though answers won't be found immediately because, these things take time.

It's important we find out what is going on with Shelbie.  Tonight, she came home from her friend's graduation and showed me a lump in her leg.  It's nearly the size of a golf ball.  Her body is just filling up with these granulomas and at some point, they are going to be big problems so, we need to find a way to slow the disease process or put it into remission.   I fear that Sam is headed in that same direction since he has one in his lungs and a suspicious tumor in his brain.  Who knows what kind of shape Spencer's brain is in.

Tonight, the boys were home so we went out to grab some dinner.  I haven't seen Sam all week and the first thing I noticed were his yellow eyes.  I immediately felt sick.  Sam's liver enzymes were really high last summer but they resolved by October when he had his bone marrow biopsy.  He's never had yellow eyes before so I'm a little worried.  Okay, let's just be honest...I'm a lot worried.  I wanted to leave the restaurant and take him right over to the urgent care for a blood test.  Instead...we stayed and I did what I do so well...pretend that everything is wonderful.  We'll see how he is doing Monday.

From no contact with doctors to all this...famine, feast...we are either starving and emaciated or stuffed and bloated.  Tonight...we are full!!




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