The Moment I’ve Been Waiting For (was a let down!)

Many of you know that for the last few months I’ve been waiting on the genetic testing results.  The word “wait” is actually not in my vocabulary, so really I’ve been obsessing and bothering everyone involved.  The last time I was in the CHOP offices, I talked circles around the lab tech to try to get her to find out information, only to see that another test had been ordered, which I’ll explain later.  I always have my phone on me so I don’t miss a call.  I kid you not, I was busy for one single hour in clinical this week (in the TSICU) and I MISSED the call from the genetic counselor.  Begin complete freakout and meltdown.

So since then I’ve calmed down, and I’ve spoken to the genetic counselor and Dr. Brandsema, our specialist.  Here’s the gist: the tests came back mostly negative.  They didn’t pick up any congenital myopathy defects in his DNA, except for a defect on the gene SEPN1.  This is the test that the lab tech told me about, which I ran and researched and low and behold, it’s linked to Fiber Type Disproportion (the disease Josh has always been convinced he has).  So the further testing showed that there was one small copy problem, not two (think that he would have to inherit one copy problem from me and one from Josh to produce the problem), so essentially that further testing was negative in that test.  Both the GC and Dr. B agreed that genetic testing isn’t definitive – things are missed, and some results are not fully understood.  Cue my speech about funding needed for research…

Dr.B was really positive when I spoke to him.  I confessed I was hopeful for a myopathy diagnosis, because they seem the more benign of the two.  He agreed, but reminded me that this doesn’t rule out myopathies.  The next step is a muscle biopsy.  We had spoken about this before and I was originally pushing away from it because of the invasive nature of the test, but as my understanding grew, I knew it was a vital diagnostic piece.  I tried to get Dr.B to do it at the time of the EMG, but that didn’t work out.  Apparently it takes a month for the results, but it could give us a myopathy diagnosis, or it could tell us it’s a dystrophy.  Dr. B said clinically, it looks like a myopathy.  He also reminded me that Harry is improving, and that should be encouraging.  That’s strange for me to hear him say; he’s not a pessimist, but rather a very, very cautious optimist.  It felt really great to have that conversation.

So now we make the appointment to follow up with Dr. B, then schedule the muscle biopsy.  I have to say, I’m absolutely dreading the first few minutes of the follow up.  Let me set the scene: we drive all the way the F into Philly to a wonderful hospital that we actually enjoy being at, which is weird.  We see Dr. B and he’s wonderful and smiling and nice.  He asks how Harry is and I glow and tell him all the great things he’s doing, and I smile with pride for my son.  Then, we talk.

Dr.B: “Everything sounds great!  Put him up on the table so I can see him.  Let’s lay him down, and see him get up to a sitting position!”

Me: “Um, transitions are still hard.”

Dr.B: “Oh, okay.  How about sitting to standing?”

Me: “That one’s hard too.”

Dr.B: “Okay. Put him on his belly and let’s see him hold his head up. No? Okay, crawl? No. Okay.”  Then he writes furiously.

For those of you who have children with medical problems, there is this weird thing that happens when you’re at the doctor (at least for me).  It’s that I can talk about my child’s problems, but no one else can.  I’m sure I’ve talked about this before.  I should run in and interrupt him before he can speak and say HARRYCANTTRANSITIONSTILLBUTTHATSOK

So, that’s the most current info.  Off we go to blaze another trail and find our way in a different direction!


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