Literally! It started snowing (FINALLY!!!!) around 8 o-clock this morning – and is STILL going strong these evening! Pouring snow! I am personally loving it. Not so much the driving around in it – but watching the kids get so excited by it, and watching how awesomely awesome it is to see it coming down so calmly. I’m not explaining it well – but i love watching it snow. It is very calming. And have you ever been outside when it is not blizzarding/negative 30 degrees and its snowing? its like it muffles the noise of the world. I love it.
So anyways – the snow has definitely been a highlight of the day!
In other news, our LONG awaited (since we’ve had to reschedule it twice!) neurologist appointment for Karissa was today. I figured this appointment would go one of two ways:
Way 1 – we get in, the MRI report shows a clear tethering in the easiest possible way making de-tethering a simple in-and-out surgery, send us on our way to neurosurgery to get it scheduled, bada bing, bada boom – problem solved, karissa returned to “normal”. And yes I knew that this was a VERY unlikely scenario. nothing in the medical world is ever that cut and dried and easy.
Way 2 – we get in, the MRI report is clear/normal, he suggests some Flintstones vitamins to address her issues, and we go on our way with our typical frustration at medical science to be of any real help.
What I was not expecting was how it did go.
He actually went over karissa’s history from birth taking good notes. He then asked more about Kendall’s symptoms/issues/journey to a diagnosis of mito, and then asked about my health history as a child and currently. after a few minutes of him quietly making notes and processing in some manner – he did an exam on karissa, asked her a few questions about how she felt, and then told us that he thought in the absence of a tethered cord, that we had to run some basic initial workups for a mito issue in karissa. Her MRI showed “many” (he didn’t tell me a number) tiny little cysts throughout her spine and brain, which would point towards a possible congenital abnormality in her early development (the spina bifida issues), and that it could be a source of some of her struggles inasmuch as they are nerve issues – but that overall, the cysts were not of concern and were certainly not enough to explain the overall picture. He actually seemed very knowledgeable about mito, which is odd, considering that i have to spell “mitochondrial” still to many doctors/professionals in an ER setting if we are not at milwaukee – but upon digging further, I realized that his fellowship was done in Pittsburgh, likely with the same team of people we saw a couple years ago when Kendall was having her diagnosis confirmed there. So it is not actually THAT surprising given his education/background that he was able to say with some certainty that it made sense to test Karissa for possible signs of a defect, as well as a few of the more common genes.
And really, in the big scheme of things, all this testing could be nothing more than a big “CYA”. (google that one if you don’t know it.) It is all pretty basic stuff to test for, and requires only a few vials of blood and a few cups of pee. It is not in ANY way to say that she DOES have “mitochondrial disease”. But, given the history with Kendall and her own health/cognitive issues over the past few months and years, it is a good place to start in the absence of another reason to tie together the random things. He also thinks it is important that I get some of the basic testing/gene testing done to see if we can find a possible maternally inherited mitochondrial issue (because while i know that I look/sound like the picture of health *ahem*….it’s all just smoke and mirrors!!!)
I know that for some people, this is really all confusing and hard to wrap your minds around. Maybe if I spent more time whining about the many aches and pains that occur around here on a daily basis it would make more sense. If I could somehow put together a video of the “spark” that karissa used to have that I so rarely see anymore, maybe i could make you understand the desperation I feel watching some of that slip away bit by bit. But the bottom line is – somewhere in a corner of my mind i have tried to cover up and shove down deeper, I haven’t ever wanted to hear, or admit, that karissa had “something”. Before I even knew what mito was, I have felt “something” about karissa. It’s hard to put into words and I know that even typing that makes me seem…dramatic? overreactive? fill in the blank with your own word. I hope that is all it is. I really do.
And for the record – I don’t think Karissa has “bad mito” – the kind some kids truly struggle for every minute of life with. I wish there were better ways to describe or categorize mito because to say that Karissa has the same disease I have watched claim the lives of so many babies of ladies who have become friends this year is an insult to the fights that they fought. while there is really no guarantee that ANY mito can’t have some serious or even fatal outcomes, I believe that there can be “mild” mito. Our doctor we saw today does too. Whether it is that the cells with the “bad” copy of a gene are just not as prolific in the body, or that the gene doesn’t cause too much damage in the metabolic cycle/pathways – some forms of mito (keep in mind that scientists can only identify about 400 out of what they believe to be about 4000 kinds) just don’t have the harsh effects on all body systems that others can. Yet others have the ability to compensate for the bad cells until they are pushed too hard by a virus, or medications, or other issues that overwhelm their capacity for compensation. (This is all just my purely unmedical opinion, based on what I have studied/read/observed about mito diseases over the past few years).
Anyways- this is all still just me processing. Having to deal with the closet full of stuffed in emotions that i had thought were nicely shoved in behind a closed door. Figuring out how to put it all back in the closet, maybe with a “healthier” view of it all. You know how sometimes you think stuff, and as long as no one says what you are thinking out loud, you don’t really have to admit to having that bad thought? Yeah. That. I know that we are SO blessed with how healthy Karissa is, even with how healthy Kendall currently is! I am not trying to whine over spilled milk, trust me. My “processing” out loud here, and sharing it with the world (you guys are my world!), is really less about the shock of karissa needing to have some bloodwork done, and more about the shock that a real doctor said out loud what I have feared for a few years. Karissa very well may not have anything remotely wrong with a single one of her mitochondria. She certainly has a seemingly unfair amount of issues to deal with that impede her ability to have more than a day or two in a row that are “good” – but the origin of what is causing those issues, I don’t claim to fully understand. Whatever it is – she’s obviously made it pretty far in life without any major issues, and for that we are extremely grateful. Really in the big scheme of things, this is a minor blip. At worst we will have to be just more vigilant with regard to her when she is getting sick, possibly change a few things at school, possibly cut back the dance classes, supplement her with some vitamins. Compared to what I know so many are dealing with – I know it’s hardly even worth the heartache I have given it today. Chances are good that we will never know what is at the root of her issues, and we will be ok with that.
So just to clarify if you saw this picture on Facebook today – it is NOT a diagnosis. It is orders for a lab that will run the specialized testing – and on that order form it states that the patient is symptomatic for a mitochondrial disorder. Even after this testing comes back – we still may not know if she does or does not have an issue within her mitochondria.
I’m sure i’ll keep you all updated as we find out more. Thank you so much for reaching out on facebook, and email, and texting. Some of you knew exactly what those papers meant, others had no idea. Others are STILl confused about what the big deal is. And that is all ok. It will all be ok. It is always ok.
I’m really too tired to be trying to form coherent thoughts, so i will wrap this up now. if you have questions – ask them. i’ll try to answer them!
thanks so much for checking in, for emailing, for caring, for everything!
And i hope there really IS a snow day tomorrow! 😉