Minnie button and KKI

So now that the major causes of stress in my life have been conquered, I can give you all an update. Super huge thanks to everyone who messaged, texted, called me and was asking for updates and who were praying for Rae and I the last few days.

Here’s the full update of what happened yesterday:

Rae went to Kennedy Kreiger Institute, a part of John Hopkins.
We met with both a geneticist and a neurogeneticist  (who specializes in mitochondrial disease).
We went over EVERYTHING in Rae’s medical history (if you don’t know the whole story you can read some of it here. but it hasn’t been updated since she started her therapies)
They asked some questions about our family history, examined Rae (who was super cooperative thanks to Grandpa being there) and then kind of put their heads together and started talking.
They decided that whatever Rae has going on is genetic (point one for being on the right track).
They also determined that everything that’s going on (weight issues, muscle issues, GI issues, and immune system issues) are all related and not just some freak accident.
They specifically said they had in mind a few ideas of genetic syndromes that she could have based on her symptoms and her facial features (They were sure to mention how precious she is, but said that a few of her features point to some genetic disorders).
They mentioned some were progressive, and some were not, meaning there are are some other genetic disorders they’re testing for that she could just have the same issues going on for her lifetime, and there were others that, like mito, would get worse over time.
They would not tell me what disorders they were thinking this could be, for fear I would google them (I would NEVER deliberately google disorders and stress myself out over them…I’ve never done that…ever).
But they also said that mitochondrial disease was still on the table and would not ever be able to be ruled out unless they figure out that she has another genetic disorder.
They said that her gtube was probably one of the best things we could have done for her (Which, can I just say was super validating for me to know that even though it sucked making that HUGE decision to have a gtube placed without an underlying diagnosis or cause of why she needed one, so hearing that it was the absolute right thing to do made me feel SO much better.)
So what we’re going to do now, is have a BUNCH of lab tests run. They’ll be testing her immune system, another chromosome test, more mitochondrial disease marker tests, blood counts, and she’ll also have a renal (kidney) ultrasound and a dilated eye exam and a hearing test.
So, there’s a couple things that would trigger them thinking this is for sure mito after these tests are done. If the renal ultrasound, the eye exam or the hearing test comes back with any issues, or if any of the mito markers (amino acid profile and L/P ratio elevated for a third time), or if she has more regressions or any other new symptoms pop up, then they will be more hard pressed to determining this is a mito disorder. 
If anything from the chromosome test or the immunoglobulin tests comes back then they’ll be able to kind of point us in a different direction than mito and towards another genetic disorder.
If nothing comes back on any of the tests, we have 3 options, one: do nothing and just kind of wait it out and see if she gets worse or has any new symptoms pop up (but continue treating her for the issues she has now), two: treat her like she has mito, start her on a “mito cocktail” of supplements and vitamins that tend to keep people with mito healthier and have more energy, even if she does not have mito, this wouldn’t hurt her so there is no harm in trying that, and three: do the exome sequencing to see if they can pick up on other genetic disorders, or a strain of mito that way. This exome test is different than the mtDNA test she had done last week, in that it covers the entirety of the cells DNA and not just the mitochondria, so it would pick up other genetic disorders too.
So we left with no definitive answers.
But we’ll keep pushing.
We already know if nothing come back, we’ll do the exome sequencing.
For us, it’s peace of mind having a diagnosis, even though we know there’s nothing we can do about it.
A diagnosis of any genetic disorder, the treatment is the same: treat the symptoms, which is exactly what we’re doing for Rae right now.
But determining what she has will make a huge difference for us. 
Right now, it’s hard to think of having any more kids for fears of passing this on to another child. If we knew the odds by exactly pinpointing what disorder Rae has, that would either confirm our fears or make it easier to think about having another baby at some point.
Or it would make it easier for my sisters and sister in law to know if this is something they need to watch for in their kids.
Or if Big S and I need to be tested.
There’s a lot of things to be considered in further testing.
Sure, we could just settle for the wait and see, but if this DOES end up being a progressive disease or genetic disorder that Rae has, we want to know what our future looks like. No matter how mild or severe the issues are, setting expectations for ourselves and our families is really important, so we’re going to get this figured out. Some day, but for now we know this much: it’s genetic, and we’re doing the best we can to help her at this point, and that’s really comforting for the time being.
Okay, so that was yesterday.
Today she had her gtube switch.
She had to go under, which I hate hate hate hate hate. I hate handing her off to someone and walking away.
Then coming back to her after anesthesia she’s usually really cranky.
But she did really, really well today!

(Why do I look so angry?!)

Anyway, she had a PEG tube. 

(Last bolus feed with the PEG tube!)
(The second picture is from when her tube was first placed)
Now she has what’s called a Mic-key button.
No that’s not the name I made up because I’m a Disney junkie, that’s what it’s called. 
Though I secretly hope Rae calls it a “Minnie tubie,” just because that would be adorable.
I’m pretty pumped about this new tube. 

(She can do all kinds of things without a tube dragging…like watch Let it Go for the billionth time)
It’s super low profile. 
You can’t even tell she has a feeding tube when she has a shirt on and doesn’t have to wear her backpack. 
It’s going to make a world of difference for her to be able to get around without having to chase her around and worry about her little “tail” hanging out of her shirt.
Or without her tripping on it.
And hopefully, hopefully, hopefully this will decrease her infection risk (She ended up with 2 staph infections in just 2 months after she got the tube placed).

So that was my week.
Truly, from the bottom of my heart I thank every single person who prayed for Rae and our family this week. You may have read that I kind of lost my mind last week and a lot of you really have been so incredibly supportive this past week (week…month…year…whatever) and it’s really been the most amazing thing to see how much people love Rae and our family. Big S, Little S, Rae and I are all incredibly blessed. This week was a huge answer to prayer, knowing we’re seeing doctors who really care and feel my frustrations with not knowing EXACTLY what’s wrong with Rae, and then having her surgery go so incredibly smoothly was nothing less than God’s hand of protection over us. I’m so incredibly grateful!


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