Sunday, August 13, 2017

So it goes...

We had a big day on Friday at our clinic appointments.  I was feeling a great deal of anxiety going into Sam's appointments with the new Electrophysiologist.  I have heard mixed reviews on the doctor we had and well...I've already voiced my opinion on new doctors.

However, I was pretty relieved when he came in.  He is an older guy and clearly feels comfortable in his arena of electrophysiology.  I really like his PA as well.  At first, he didn't say much and I heard the dreaded sentence...Well, Lance Armstrong... I shut him down real fast!  But, he wasn't offended.  He said he appreciated me saying that Sam has been deteriorating for the past couple of years.  It's interesting to actually see his heart function dwindle over time, on paper.  At any rate, by the time the appointment ended, we were joking around and he had loosened up enough to laugh along with our teasing.

Sam's heart rate on Friday was 37.  Dr. F had him brisk walking in the hall for a few minutes with a pulse ox monitor on, just to see how high his heart went and get an idea of how winded Sam is doing something as basic as walking.  His heart jumped up really fast to 128 but dropped even faster as soon as he stopped. In less than 10 seconds he was back down to 53 and then settled in the 30's.

We had a good conversation about telomeres, mitochondria and chiari's.  He admitted that we are his first patient with DC, Chiari's, short telomeres or mitochondrial issues, yet he was aware of each of these conditions with exception of Dyskeratosis Congenita.   He said Sam's heart is behaving like an elderly person which makes me think the telomeres are our biggest problem.

We also talked about the prospects of a pacemaker but only in general terms. Dr. F wanted Sam to do a 48 hour holter monitor test and a treadmill stress test in the afternoon.  During the treadmill test, Sam struggled to keep going.  I wasn't allowed to be in the room, (thank goodness! I'm still experiencing PTSD from Spencer dying back there last Fall.) but they had the PA in there with him the whole time.  I guess when it was done, they had a heart to heart talk about getting a pacemaker.  He asked Sam how he felt about that and what his worries and concerns were.  If that is what they determine needs to happen, it's not going to be an easy road for this little family of mine.  Recovery is about 6 weeks and that is going to be hard for Sam, the boy who is on the go.

Immunology wasn't filled with good news.  Spencer is fairing the best of the three kids.  Sam is about where Shelbie was 3 years ago.  He really is in pretty rough shape but I already sort of knew that since he catches everything that comes along.  Because of his heart complications, there isn't much we can do until a plan is in place for helping Sam's heart.  Dr. Gundlapalli is teetering between diagnosing Sam with Common Variable Immune Deficiency and Selective Variable Immune Deficiency.   He said that soon enough, he will most certainly be CVID.  He wants to hold off on Plasma transfusions as much as possible because it's a life long medication and he's so young still.

  Ideally, he wants to see if daily antibiotics keeps him healthier but the medications he would want to use affect the heart and liver so that may not be a good option right now.  We are in a holding pattern for a couple of weeks.

For now, we will watch Spencer closely.  And Shelbie?  She had a seizure while we were in the room. Dr. G is such a tender hearted doctor, he was really good with her and helpful in calming her down.  I don't know what I would have done without him there.  I think he knows more than our team is letting on because he kept saying that the plasma will not only help her immune problems but her demyelination problems as well. I haven't heard anyone tell me she has demyelination issues.  I skirted around that issue.  I have enough to worry about right now.

Friday just wasn't a good day.  We had an impressive melt down as a family Friday afternoon.  This life of ours is taking a toll. It's been upsetting to watch the kids go through this.  There are going to be some hard days in the near future.  We go back soon for GI check ups- Spencer is losing weight and mass.  He's down to just barely over 5%  body mass.  Sam's eyes are yellow and I can't keep putting off his liver issues.  We see our heart doc next week and I anticipate a decision will be made about Sam's heart.

I feel like I'm quickly running out of space to do anything but all this medical stuff.  Any extra stuff overwhelms me.

But, today is Shelbie's birthday!  25 years old.  That makes me one old mama!


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