Friday, January 13, 2012


Recently I received a phone call from a friend that was humbling.  It was a good reminder of why I should be vigilant in fighting discouragement, always observant of the tender mercies which are bountiful in my life, and always grateful for the challenges which are mine.

The phone call was not intended to be humbling.  It was simply one friend sharing life's experiences, tough experiences.  I am grateful for friends who still call and openly share with me, even when they say stuff like "Well, it doesn't really compare to what you're going through."


Just so you know, I'm not comparing.  I hope you're not either.  ;)

Wednesday, January 11, 2012

Purchasing Anxiety

Do you ever find yourself shopping only to realize that you're actually shopping for the right size, not the right look or the right fit?  Perhaps it's just my old demons, maybe not everyone battles this in a dressing room.  I hope they don't.  I hope you don't.

Monday night while I was driving home from Austin I thought I'd check out the Outlets.  I thought a really good deal was just what I needed to lift my mood.  Plus, I received a generous Gift Card to one of my favorite stores, Banana Republic and I can usually count on finding something there to lift my spirits.

Just as I expected, BR had lots of great clothes!  I was hoping to find some tops, but I mostly found pants.  Ryan patiently looked around while I gathered an entire armful of things to try.  When we finally made our way back to the dressing room, I tried on more than a dozen pairs of pants and felt like a two-ton Betsy in each pair. Crazy.  I've gained 1 pound.  That's still significantly less than I weighed a year ago.  So, why is the mirror reflecting back this HUGE image?

I struggled with all the numbers ... the pant sizes, the current weight, the past weight, the weight gain, the weight loss ... and eventually had to tell myself that 1 pound weight gain could not make me a two-ton Betsy.  As I stood in the mirror, trying to make myself realize that I wasn't making any sense, I realized that I was shopping for a size.  And, even more significantly, I was hurting.

Scrum.  I am hurting.

We met with the Pediatric Surgeon on Monday to discuss the planned muscle biopsy.  They want to do a muscle biopsy to determine if Ryan has Mitochondrial Disease.  I wish I had taken the drawing off the table so I could scan the image for you.  I have it seared in my head.  It seems so large compared to his tiny little legs.

To test for Mitochondrial Disease they need two square half-inch sections of his muscle.  They will remove it from his right muscle.  It will be an outpatient surgery and it requires general anesthesia.  Because the Surgeon heard a "pause" in Ryan's heart, she has requested a clearance from his Cardiologist before the surgery, and also wants us to meet with the Anesthesiologist before the day of the Surgery, just to be safe.

This is a really invasive procedure and the muscle will not regenerate.  I don't like the idea of him having Mitochondrial Disease, but it wouldn't be any better or worse than him having Niemann Pick Type C.  (Yet, what they're testing for is to see if he has both NPC and Mitochondrial Disease.)

When we first talked about all these tests, the Metabolic Geneticist had said that if we got a positive test on one, then we wouldn't do this test.  However, when the first NPC test came back positive, he said to go ahead and meet with the surgeon for a consult regarding this one.  So, after our consult, I called him to say, "We've met and we've scheduled the surgery.  Do you still want me to go ahead?"  His answer was a firm yes.

I'm holding out hope that it will change once we have the final test results for the Niemann Pick C.

Speaking of the test results for Niemann Pick, we received word from the Mayo Clinic yesterday that as of yesterday afternoon, the test is not finished.  They anticipate it will be finished by this Friday.  I'll be sure to let you all know as soon as I hear results.

As always, I appreciate your prayers, love, and friendship.  Perhaps more than words can ever express.

PS  Speaking of prayer, there's a great video I watched this morning on Prayer, here's a great video I watched this morning:

Monday, January 9, 2012

5 Weeks

It has been 5 weeks since Ryan's skin biopsy and the test results are not back in from Mayo Clinic.  They should be back anytime now.

We are meeting with a Pediatric Surgeon today to discuss a muscle biopsy.  The muscle biopsy will test for mitochondrial disease.  We had discussed perhaps not doing the biopsy since he had a positive test result; however, when I spoke with Dr. Gibson's nurse on Friday, she said he still wants the muscle biopsy. 

I will schedule the biopsy today; however, I'll confirm with Dr. Gibson again before we actually do the biopsy.  Hopefully, we'll get the NPC results soon.