Thursday, March 15, 2012

I've been having a hard time writing lately.  Mostly because there is a cranky baby attached to my left shoulder constantly.  But also, because I've felt this need to ration my thoughts about Mabel.  It's as if I feel like the more I talk about her, or how I feel-the less people are going to want to listen. 
I had forgotten for a few days that although I love you all, my readers, this is a place where I write for me and for my children.  I want to be able to look back and see my documented feelings and how each day impacted the next. 

Please don't stop reading.  You have been so patient but this is going to be a long haul with Mabel.  Some of my most overwhelming thoughts come after realizing that these 'hard days' are potentially going to be some of our best.  There is no answer.  There is regression.  There is alot of sadness, loneliness and confusion.
And although there are moments of absolute joy, I am still learning how to live with this constant ache of sadness that has moved in without invitation.  Many days I feel it and can manage.  Most other days it is physically visible for the world to see.  I look tired, seem grouchy and cry instantly. 
This is all new for me.  This is not who I once was.  But until you face something so life changing and have to care for, love and advocate for that somebody every single day-there is no way to prepare for the sadness that will inevitably unpack it's bags in your heart.

A couple of days ago, I received a facebook message from a friend with a link to a rare syndrome.  This happens often and I can't express enough how thankful I am to everyone who takes the time to email me or offer any insight to our situation.  We have no answers and the Dr's are pulling at strings as well.  So to have someone take time to think about our family, whether it be in research or after seeing something that reminds them of Mabel-is amazing.  I cannot do all the research alone but it's a lot of pressure.  To be honest, if I'm not doing it nobody is.  We are seeing a second geneticist precisely for this reason; because our first said we had come to the end of the road in testing. 
I just won't settle for that.

So after looking up the symptoms of this syndrome (it doesn't even have a true name yet...) I sat at my computer and cried.  We have looked up hundreds of syndromes and diseases.  Mabel has many symptoms of many of them.  But NEVER has she had every.single.symptom of any one thing.  There is one on the symptom list that doesn't fit but like 19 that do.  Anyway, we looked it up on youtube and spent time watching videos yesterday.  Daniel sat with me and cried. 
We can't believe how much this looks like our girl.  And although this diagnosis would bring a name (sorta) it also comes with no cure, is progressive and there is little research. 

Still, we are pursuing testing as soon as we can.  Many children that get diagnosed with this syndrome have been tested for the same things Mabel has been, including mito.  There are only 200 known cases worldwide, affecting mostly girls and although it is genetic, it is usually spontaneous-meaning neither mom or dad carry the gene that 'causes' the syndrome. 

So please, if you think of us, please pray that we would have wisdom and direction about this.  Please pray that the new geneticist would be on board with not only this testing but a very expensive test that could give us a diagnosis, even if this syndrome is not our answer.  There are many things happening in the world of 'undiagnosed' lately but without the right insurance or doctor it may be as hopeless as anything else.  One more dead end seems devastating but not knowing seems even worse. 
I'm still not at a place where I feel peace about stopping.
My heart has broken several times this week.  Mabel simply cannot handle therapy anymore.  She is so irritable to the touch and so we came to the agreement that we will possibly cut back.  It's not beneficial at the time for any of us.  It is upsetting her, upsetting me and overall she just isn't making any huge gains.  We are at a standstill. 

Next week is a big week.  We have her gastric emptying study (a hard test from what I've heard) and her sedated ABR.  Thanks in advance for your prayers and encouragement. 

Many days feel like a repeat from last year.  Same testing, same Dr's.  The only difference is Mabel is much less satisfied making everything 10 times more difficult. 
These are long days.  There are lots of tears and many moments of exhaustion.  We're simply doing the best we can but it isn't easy and it definitely doesn't seem as graceful as how I would like it to be.  But we're trusting God; seeking Him and resting in Him and I know that He is guiding us.  I still feel like He has a plan greater than I can envision and it is unfolding even now. 
Thanks for being part of it alongside us.  We are grateful.


Amanda said...

We pray for your family constantly. Our hope is the words we lift up to our God will cover you and your family.

Reese said...

I'm praying for you, your girl, and entire family! I pray you feel God holding you.

Elizabeth said...

Praying for answers, clarity, and peace for you in the coming months. I totally understand what you mean about needing to have a name- I have the same need.

Kalli said...

Praying. Always. Love you guys and care very much what is going on and how you are handling things-don't ever feel the need for "rationing" on here.