Thursday, December 29, 2011

Genetics Update.

We all think that our children are the exception to the rule but I am here to tell you that my Mabel girl truly is the exception.  
 And in her case, it's disheartening because every one deserves an answer.  Everyone deserves a good fight.  And Mabel's symptoms just seem to be the exception to a diagnosis at this time.  Whether it's another day, another week, another year--for now, we are holding a precious mystery and learning to accept that as it comes.  
 Genetics called a couple of days ago with the results from a comprehensive mitochondrial DNA test performed on Mabel's muscle biopsy.  
As always, we have news but it may be nothing.  Or it may be something.
And there's no way to know for sure.  And that's about the gist of it.  Except that's just not how it should be, ya know?  It's just not how it should be.

Basically there is a variable present in every single one of Mabel's mitochondria that is rare. 
Ya think?
 It is seen in 1 out of every 2700 people in the mitochondria database that was used.
This particular variable was seen in both healthy and unhealthy people in the database so it's really quite hard to determine whether or not this is causing Mabel's symptoms.
There is another option that may help give us some better insight but it weighs heavily on me.
They could test my muscle (because mitochondria are formed in the mother's egg) to see if all of my mitochondria have this same variable.  If they do, it is likely that Mabel inherited the variable from me and because I'm healthy--it would be unlikely that this would be causing her symptoms.
However, if I only had a couple of mitochondria affected, or maybe even none--then it would be more clear that hers was not inherited from me and therefore may be spontanious.  This would make it more likely that this is causing her symptoms, but not necessarily definitive.
I sat on the floor of my bright green bathroom and I felt my chest draw heavy. 
 I just knew this was going to happen
"In the future there may be more tests that line up with Mabel's symptoms.  As research progresses we will know more and be able to test for things that maybe aren't on the table right now."
And in the meantime?  
What if Mabel's symptoms progress faster than research?  Faster than medicine?
This is likely, by the way, considering that they haven't come very far.  
In all of the case studies that I have researched, there is almost always close to half of the patients who have an unknown or rare variable that they just don't know enough about to help make a diagnosis.
This isn't to say that there aren't other things that we have considered.  
Maybe Mabel doesn't have a mitochondrial disorder after all.  Maybe we should do the nerve testing.  Maybe, we just keep doing what we're doing and hope for the best.  
The genetic counselor made it clear to me in the beginning of this that there was no way that they could ever tell us that Mabel does not have a mitochondrial issue.  There just isn't enough research to prove or disprove it.
And now, after most of the testing has come back (we're waiting on one more)--she's still telling me that same thing.  There's just no way to know for sure.
I know that it may be easy from the outside to look at Mabel and just tell me to enjoy her for all she is.  And believe me when I say that I do!  But I also feel a sense of urgency when it comes to the health of my baby.  My sister and brother may have children.
My children will have children.
We deserve to know for Mabel and they deserve to know for their futures.
We have a baby who, without heavy medication, seizes 85% of the day...
Whose ears are not hearing correctly...
Whose vision is impaired drastically...
Who cannot eat by mouth without choking, gagging, or throwing up most of the time so she is G-tube fed.
We have a baby who cannot even poop without the help of medicine and who has braces on her little legs.
Whose muscles do not have any strength,
Who is allergic to milk, soy and many other things.
And yet there is not enough research to give us an answer as to why?
Why?  How?  Why?

I'm having a hard time processing some of that and although I'm frustrated and sad in many ways, I knew this was a very real possibility.  In fact, I have read so many accounts of children who have unknown mitochondrial disorders, some who have only been diagnosed clinically and some whose parents stopped testing altogether because there just wasn't enough research.

I'm not sure that I'll do the muscle biopsy on myself.  At this point, it isn't going to give us a clear answer either way.  It may help eliminate some questions but they aren't going to call me and say that this is absolutely causing Mabel's issues.  There are some mitochondrial disorders that are easily diagnosed and my heart breaks for the parents of those children.  
We are on the other side of that--having no clear answer and that is heartbreaking as well.
Here's what I know for sure--
God has directed our steps this far and He will continue to do so.
As He leads me, I will follow and will never give up until He tells me to do so.
Today isn't the day to give up though.

We're going to take some time to pray and be still.  
I've learned that it's ok to be mute with the Lord for awhile and just listen.
We're going to take some time to think things through and love Mabel, stepping away from the game for awhile.  There will always be tests to run and things to do.
For the first time in a long time, I feel ok with doing nothing.

Did you know that the Bible says that when we are faithless the Lord remains faithful?  It does! 
[2 Timothy 2:13]
Right before this verse the Bible also tells us that if we endure pain, we will reign with the Lord.  How amazing!  

Although it is painful, we will endure it because Mabel is worth it.  She's worth finding an answer for as well.  We may never know what is causing her symptoms or why things are the way that they are but I am confident that our God will show up in a mighty way for our little girl.  He has always proved Himself faithful to us and I haven't lost sight of that-even in the sorrow, confusion and pain.  

I'm drawing close to Him today and asking His breath to cover me.  What a sweet, gentle breeze it is.  What a soft place to fall.  
This too shall pass, I believe, but for now this is my sweet dance with Mabel.
I will forever be grateful for what the Lord is showing me now.  
Right here.  Right now.
They are answers far more important than any medical test could ever reveal...


Jessica Kramasz said...

I will be continuing to pray.
May God fill you with His grace and peace today, Ramee.

marie clare said...

Last year I prayed for peace for 2011 as i was where you are now, in my search for a diagnosis. I have found some peace with Ryan being undiagnosed, although i still wish for a "name" Im not as heartbroken with not having one now. I pray 2012 brings you your peace with answers you find or dont find.

Dana said...

I empathize. It's pretty amazing . . . if not for Maya I wouldn't have imagined that so may people are undiagnosed in our age of medicine and technology.

I agree with Marie Clare in wishing you peace, whichever way the journey takes you.