Monday, February 16, 2015


I think this is a common title for me on this blog, but my perspective continually changes.  I guess that is to be expected when we are always in a state of flux.

Friday, my Bishop stopped by to get the scoop on the nonsense happening here.  He offered to give me a blessing.  In the blessing, he said two things that I will share, that struck me as interesting and truly a blessing.

1.  He said to do as much studying and research as I could.
2.  To listen to the doctors and to trust them.

They are both incredibly interesting to me because why would God need to remind me to do studying and research about my kids' condition when I spend a huge amount of time doing that anyways?  After that thought, I remembered that a few weeks ago, I found a lady who has DC and she is middle aged.  She has had a bone marrow transplant and several different forms of cancer.  She is still alive!  She has a quality of life though her life has not been easy.

When I thought more about that, I realized that maybe finding out all this bad news about my kids isn't because they are going to die anytime soon, maybe it's because they are going to be healed.  Maybe, finding all this out is a way of preserving their life.  It's crazy I know...but Sam can't keep living with a bad ureter.  Maybe we caught that just in time to treat something small before something bigger happened.  Same thing for all the heart issues.  I definitely want to get these holes fixed and maybe that needs to happen before the next big thing comes along.

So, that much understanding gave me hope.  Something that made sense to me and I appreciated that switch in perspective.

The second blessing that made an impression in my mind was that I needed to trust the doctors and listen to them.  I was not too keen on listening to the Cardiologist on Friday when he said Sam's kidney and ureter problems were urgent.  I have been doubting the whole fungus story with Shelbie too.  I even asked the Cardiologist if we could just deal with the kidney issues after the heart issues and he said "No, this is serious."

Today, I will be setting up that urology appointment, for this week hopefully.

I also did a lot of studying and research last night and came upon some really interesting research out of NIH. More studies on X- inactivation of the DKC gene.  Shelbie's diagnosis remains in question because she didn't show up with the DC mutation, however, she has more symptoms than the boys do.   I have read probably 6 articles now on girls who had no sign of the gene yet had the symptoms.  They call that X-inactivation.  Because girls get two x Chromosomes, one is considered poor, since I am a gene carrier and likely passed that on to Shelbie, but the other one is good since it came from her dad. Typically, the good gene takes over and the person doesn't have the disease.  Sometimes, the bad X can become fired up and take over in certain areas of the body and the disease process begins.

My hunch is that this is what is happening to Shelbie.

One article I read, even stated that a girl with x- inactivation had lung nodules and calcifications in her lungs!  Another one read that eye problems, such as conjunctivitis is common in DC kids.   Shelbie's eye is not getting better,  in fact it is getting much worse.  Last time this happened, she had blood leaking from her eyes!  It was horrible.

I can see how God is leading me along.  Through all this learning, I will be able to work better with our doctors and continue to solve these problems.

It still makes me crazy to think how quickly the problems came on and how they keep coming.  That part, I haven't sorted out yet but clearly, this is the DC disease process, not just a random collection of bad luck.


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