Wednesday, November 25, 2015

A Long Diagnostic Road

As many families of children with complex medical issues can tell you, the road to diagnosis and treatment is often long and exhausting.  It's looking like ours will be no different.

We just returned from our second trip to see a neurologist who specializes in mitochondrial disorders at Seattle Children's Hospital.  The first trip the appointment was for Pip, and I flew with him.  This appointment was for Gilead, since he constantly complains of muscle pain and fatigue and disautonomic issues.  

This time we went as a family, which was quite the adventure.  Lots and lots of car time over four days with four young children.  The doctor is highly suspicious that Gilead and Pip both have a nuclear form of mitochondrial disease, meaning that they inherited a faulty gene from both Ryan and I.  Apparently there's a one in four chance of your children getting it if both parents carry a faulty gene.  However, given Abel's autism and Mercy's neurogenic dysmotility, motor delays, and motor ticks, we may have "won the jackpot" and have passed the genes on to all four of them.

Because Pip is the most involved, given his severe GI issues, his motor delays, the *leukoencephalopathy on his brain, and other quirks, the next step is to repeat the MRI of his brain and perform a muscle biopsy on him.  A repeat MRI will show us whether the leukoencephalopathy is progressing, and a muscle biopsy will hopefully show us whether there are damaged mitochondria and help identify DNA.  There are three drugs in the pipeline for mitochondrial diseases, but they're targeting them to specific DNA, which is why it's important to try to nail those down.

The MRI and muscle biopsy will be done in Seattle, which means another tip.  A longer one.  We'll meet with the anesthesia and surgery team on one day, and then he'll have the MRI and surgery the next.  Then we need to remain in the area for at least one day following the biopsy just to be sure there aren't any complications.  Mito kids are more prone to those.  I'm not sure how we're going to manage this.  Taking all of the kids would be hard, but I want Ryan with me.  However, childcare may be downright impossible if he did come.  We're just breathing and trying to trust God one day at a time.

Some of you may recall that since someone hit me on the interstate last year I've had a phobia of interstates since.  After successfully completing the trip to Seattle I was finally relaxing.  Then, about halfway home, we were hit on the interstate.  Again.  You can't make this stuff up.  It was incredibly ironic.  We were passing a vehicle that had spun into the median (a big, grassy one), and police were already there.  Traffic was slowing.  A lot.  Then the car in front of us suddenly pulled over.  We managed to stop on time, but the guy behind us didn't, and rear ended us.  

As it turns out, the car in front of us that pulled over was the news crew, pulling over to get footage of the accident--and in doing so caused another one.  Thankfully, we'd slowed enough everyone was okay.  We now need to replace all of our children's carseats and go through the hassle of a claim, but we're thankful God had his hand on us.

So, now we need to figure out when will be best to return to Seattle for more extensive testing, and this mommy needs to rest in God and not panic about logistics and potentials. 

*Leukencephalopathy means that Pip has white matter damage to his brain, that appears to be a leukodystrophy-like disease of an unknown molecular origin.

1 comment:

  1. Dear Amber,
    The Lord has given you a very difficult way to glorify Him. Know that He is doing that in your constant turning to Him.
    Praying for your sweet family and you.