Spontaneous

Spontaneous:  coming or resulting from a natural impulse or tendency; without effort or premeditation; natural and unconstrained; unplanned

On the morning of this past 4th of July, we got into a discussion with some friends of ours.  Some of them were leaving right after the breakfast to go camping.  Someone said that we should come up as well.  When I said that we would need more time than that to prepare, he said something to the effect of, "what kind of preparation do you need for camping?  Just throw some stuff in the car and drive off."  It got me thinking.

I have never been much of a planner.  I have trouble making commitments and love to do things on the spur of the moment.  I usually like change.  When John and I were first married, I was working for the airline so we could fly standby for free.  We loved flying to new places and having the ability to visit friends and family so easily.  One 4th of July we decided to fly to Utah.  When we got to the airport, we saw that the flight we were hoping to take had filled and there were no other flights to SLC with seats available.  So, what did we do?  We sure didn't go home.  Our bags were already packed.  We stood there looking at the departure board and chose a place to go.  We spent that night in Florida!

Once we had children, I quit working so that I could stay home with them.  Our love to "go" at a moment's notice didn't change much.  We went on a couple of family trips like the one to Disneyland with our friends the Crandalls.  They were going with their family (family reunion) and one of the families was not able to go at the last minute.  So they called us, we packed up our 3 little boys and left.  Best trip to Disneyland ever!  (Well, other than the fact that our stroller was stolen while we were stuck at the top of a ride..but hey, that just added to the adventure!)  Many of our friends also knew that they could call us almost anytime and we would jump at the chance to join them for a date night, family activity, or even camping.

But things have changed.  I knew that, but I think that this discussion with our friend really brought the reality of it to the surface for me and quite frankly, made me a little sad.  I think that for everyone as you have more children, the ability to be spontaneous becomes less and less.  But when you add in a child (or two) with special needs, it is an even bigger challenge.  A child who is medically fragile takes it to an even higher level of difficulty.

As I think about it, I think the last spontaneous trip we may have taken was our trip to Italy where we ended up in Holland.  Ha Ha!  That one sure wasn't planned or prepared for.

What a lot of people who do not have medically fragile children do not understand is how much work goes into taking care of these children behind closed doors.  How much it takes to get ready to leave the house for even a few hours.  How much equipment and medication has to be brought along for their basic needs as well as the "just in case" items that your child may need, possibly to keep them alive while you are away.   We have to think about having a power source to run their machines.  We have to prepare their food ahead of time, because stopping for a hamburger along the way just isn't an option.  The list goes on and on.

So, when I got a call last Wed. night from Melissa at the Ryan House stating that they had room available this week and would love to have Bryce and Annalise come stay for a few days, I was excited with the thought of a spontaneous trip once again.  We had to decide quickly if we could make the arrangements,  pull our kiddos from school, and make that Summer Staycation that never did quite happen this Summer, happen now.

-To be continued-

...after our vacation...

Friday, August 2nd, Annalise had her MRI tests.  Saturday night I got an email from Dr. Narayanan.  Seriously, does that man ever sleep?  Anyway, here is the official report he got from the radiologist:

MRI is normal, MRA is normal, and MRS (spectroscopy) is normal.

Yes, you read that right.  Normal, Normal, and Normal!  Fantastic news, right?  Yes!  It is, don't get me wrong.  I am thrilled that, like Bryce, she too has shown progress in her myelination.  It gives me a new hope (again) that maybe our children don't have anything seriously wrong with them.  That maybe there is an easy answer and maybe even a cure!  I want to hold on to this hope, to not think any further.

But then I look around and the frustration sets in.  I want so badly to believe that everything is NORMAL with our children, but if this is the case, why is Bryce in a wheelchair, why can he no longer chew, suck, and swallow correctly, why does he stop breathing at times, why does he have to speak with me using his eyes instead of words,  why is he lying on the floor or sitting in a special supportive chair while watching his brothers run, ride their bikes, play ball, play video games and all the other things a NORMAL 6 year old boy would be doing?   Why do I still have two children in diapers?  Why is my daughter unable to run like she used to, why is it getting harder to understand her words instead of easier, why does she wake in the night because of pain and the inability to roll herself over or to get in and out of bed on her own like any NORMAL 4 year old can?

If everything is normal, why is it not?

Dr. N went on to share his thoughts:

"When I look at the MRI - I still have the feeling that there is some problem with the pace of myelin development.  There has definitely been some progress in myelination between 18 months and now; but just not at the normal rate I think.
This is also the same feeling I had when reviewing Bryce's latest MRI.  There is also the report compared to his prior MRI which suggested delay in myelination.  They say that the myelination patter is symmetric, and improved.  They also noted subtle prominence of the cerebellar folia (spaces between the ridges of the cerebellum).

I think this takes us out of the Aicardi-Goutieres syndrome group of disorders.  All the other classical leukodystrophies have been ruled out.  Still can't ignore the mild elevation in CSF neopterin in Annalise.Clinically, they both look like they have some white matter disorder."

He went on to tell me that he has one more hunch and will have to do some work to figure this out.  Didn't tell me what that hunch is, which of course makes me crazy curious and yet at the same time I don't want to know what he is thinking or I will research something else for hours and hours only to find out that it leads to another dead end.  He says that he thinks the best shot is to wait until the exomes on me and John are completed and then we will have a better idea.  I think he is right.  Hopefully this will be available in the next few weeks, he says.  I hope he is right.

I want to stay positive.  I'm trying, I really am.  I don't want to sound negative because the news that we have gotten about the myelin truly is wonderful news!  Definitely a blessing!  I am so thankful that this is what is happening in our children's brains.  

We truly have been blessed with a wonderful man as our children's neurologist.  He is working so hard and coming up short and never giving up.  Even though in so many ways, it feels like we are still so far away from knowing what is going on with our children, there is a part of me that believes the answers are right in front of us.  I can feel it!  If only we knew how to reach out and grab them.  

I know that when the time is right we will know.  I know that the Lord knows.  I know that we have family and friends on the other side helping us...both in finding the answers to our mystery and in helping us be patient until that time comes.  I definitely cannot see the whole picture.  I don't understand why our children have to go through all of this...especially if we do find out that it is something that can be solved, that with some small thing our children can be healed.  Wouldn't that be wonderful!  Oh how I hope and pray that this is the answer that we finally, someday soon will be given.  

We have been talking for a while now about looking into Make-a-Wish for Annalise.  Bryce had his wish granted back in 2010, one month before Annalise was "diagnosed".  It was wonderful and truly a blessing to Bryce as well as the rest of our family.  Something we will cherish forever!  Annalise loves Micky Mouse.  She loves water.  She talks about swimming with dolphins.  I think we will hold off just a bit longer.  Who knows, maybe she won't even qualify for a wish!  Wouldn't that be crazy...and wonderful!

All I know is that through this journey I have met some incredible people.  People who, very likely, I never would have met otherwise.  I have learned things that I never would have learned.  I have become a person who I never would have become without this part of my life.  My husband and all of our children have done the same.  I feel like everyday, even as I continue to learn, the less I know.  One thing I do know for certain though is that there is something so much bigger than us out there.  I know that we have a loving Heavenly Father who is fully aware of who we are and what we need.  There is a plan and every single one of us has a very important role in that plan.