How do you define relief?
How do you define one of the biggest answers to prayers you could possibly have received?
I don’t know, so i am not even going to attempt to capture it.
We got a phone call from genetics today to go over results. My heart was pounding as I picked up the phone, knowing it could irrevocably change the course of our lives depending on the information I was about to hear.
But praise be to our amazing God in heaven – Kendall does NOT have the SUCLA2 mutation or its evil cousin the SUCLG1!!!!!!!!!!
I know this post will be full of other medical mumbo-jumbo that even I myself have a hard time grasping – but know this – THIS IS GREAT NEWS!!!!! You might remember my post from about a month ago where we got the news of Kendall’s diagnosis and the possibilities still on the table. At that time they were concerned that she fit the clinical picture of an essentially horrible disease known still as SUCLA (it’s an acronym for crazy long medical chemical processes), and began running testing to that end. SUCLA basically meant that she had a depletion of the mitochondria map – her body would not know how to continue making new cells, and she would essentially run out of energy to keep her liver/heart/stomach/brain functioning (or take your pic of any other random organ system.) Bad stuff. Definitely fatal. Brutally fatal.
But she DOES NOT have that mutation, the one they KNOW means you have that disease.
She does happen to have a nice brand-spankin’-new variation/mutation (I can’t remember which the geneticist said) in that area – but right now, they don’t feel it is the main cause of her symptoms. It may explain some things about why she presents so similar to the list of characteristics that is diagnostic of SUCLA, and yet why she is not hit AS hard by many of them. They have documented her change and I think her cells are still being evaluated at the research lab by our doctor simply because it is an unknown variant – but right now they are still on the hunt for a different (hopefully more hopeful) cause for her issues.
I am probably rambling and not making much sense (if, in fact, I ever DO make sense) – but i am so giddily happy/light as air/very relieved at this news that I can hardly get the words off my fingers and onto the screen.
Do you realize what this is?
THIS IS HOPE.
This is what hope looks like and feels like. This is what relief feels like – taking your first breath in a month. When you didn’t even realize you were holding your breath.
Other minutiae that came up:
We still don’t know how the B12 is affecting her MMA levels. Those results will be back next week sometime. The plan for now is to continue with the injections as we do feel we are getting some clinical benefit from them (in the form of more energy/stamina for kendall).
Skin fibroblasts show that there is not a fatty acid oxidation order at play causing the MMA buildup. This would have just been adding fuel to the fire of her other metabolic issues as it would have meant she had to restrict fat AND protein, but this does not appear to be the case. It is one instance where things appear to (finally) be actually functioning as close to normal as we can get with Kendall!
Muscle biopsy is still outstanding. The lab that is in possession of the muscle sample is playing bureaucratic games with our geneticist in milwaukee and not releasing the sample. I am not sure what they think this will earn them in the long run – i am quite sure kendall’s muscle isn’t made out of gold and probably isn’t worth much on the black market. But whatever. If I think about this too long it makes my blood pressure raise. I am letting the labs duke it out. We have enough info to know that her mitochondria aren’t functioning right, and knowing where they are missing the boat on function won’t help them start to function. We will get that answer whenever we get that answer and I have to just keep repeating that to myself.
Other than that – we keep on moving forward.
She is definitely working hard to fight something – either one long something this past month, or a few different somethings that are starting to all catch up with her. Nothing super worrisome or definite I can put my finger on, but a real sense of “something’s not right” nagging at my mommy alarm. She had a horrific day of diarrhea yesterday, more pain/tiredness/screaming than i have seen from her in a while, and then today she started in with a very different sounding cough than she normally deals with. It could all be nothing, it could all be the same something. It could even be three or four different nothing/somethings. With any of the other three girls, I’d tuck these oddities in the back of my mind and not really give much other thought to them. My fear with Kendall is that time and again she has proven my instincts right. Time and again she has fought and fought and fought against something only to use up all her energy and then be crashing by the time any of us realize something is actually wrong. I have to find a way to proactively protect her from those crashes instead of reacting with a nite or four in the hospital when it happens, doing more and more damage to her crazy unstable systems. THANK GOD for the progress she has been able to make in the past couple of months. She is in a MUCH healthier/stronger position this winter than she was last year, and that is a good thing.
But it still doesn’t make everything magically better. Just a little bit easier.
So that’s where things are tonite.
Just me taking lots and lots of deep breaths. Raising prayers of thanks and praise that I can hardly find adequate words for. Prayers for the other families who ARE affected by this horrible disease, in all it’s many mutations and forms.
And thanks for all of you who are part of this journey with us – our support group, our therapists, our family, our friends.
Be blessed tonite.