Rae had the mito DNA test done back in September and yesterday we went to her geneticist at Children’s to get the results.
The results were negative.
What does that mean?
I’m not joking. The results mean nothing.
She could still have mito and it not have been picked up on this test.
She’s still considered “suspected of mitochondrial disease”
The test was supposed to give us an answer if this was a maternal strain of mitochondrial disease or not, but apparently it has a high false negative reading.
So we can’t even rule that out.
We can’t rule it out being a genetic issue that could happen in our other children, should we one day want to have more.
And we definitely aren’t ruling out mito.
In fact, I was informed yesterday, she’ll be “suspected” of mito until they diagnose her with it or if they find a different disorder she has.
So that sucks.
The only thing they found on the DNA test was one genetic mutation that may or may not be presenting itself.
We did further testing on that yesterday and I guess it’s the one good thing that came out of this testing. Even if she doesn’t have the disorder associated with the gene she needs to know that when it comes time for her to have kids as they could have it as well.
So what now?
We were given the option to do more genome exome sequencing.
Basically a more in depth DNA test that would go even further into her genes.
More tests that could pick up on more genetic strains of mito or other genetic mutations. But once again, this test is inaccurate and from what was explained to me, tends to pick up on genetic mutations that may not even mean anything.
So we’re taking a break from testing.
It’s been a long year, and the stress of “Is it this?” or “Go see this specialist.” and “Let’s poke Rae some more!” is exhausting.
But since she’s still suspected of mito, the course of treatment is the same either way.
We’re treating the symptoms.
She’ll stay on her gtube (unless they switch her to the NG for a bit, more on that another time). She’ll keep seeing a GI, Neurogeneticist, Immunologist (We’re on the schedule for January), Physical Medicine specialist (in February for orthotics), and continue with her weekly therapies.
If some other issue should pop up, we’ll deal with it then.
And we should be starting the mito cocktail after our next appointment with the neurogeneticist.
But as far as more DNA testing goes, we’re going to hold off.
We’ll give it a year, and if we still don’t have answers, we’ll do more testing then.
But from what I understand, if more issues with Rae arise, they may be able to diagnose her with the testing she already has done as well as by her symptoms.
It stinks though.
It’s so frustrating to be living at the doctors office and doing therapies and gtube feedings and watching her get so many infections without having a FIRM reason why it’s all happening to her.
And it makes it really hard for Big S and I to think about the future. What if we do want to have another baby at some point? Will that baby have the same issues Rae does? Will my sisters kids have issues? It just is so aggravating to not have a reason for all that is going on with her.
I know eventually she could get better (preferably!), or she could get diagnosed. But for now, living with whatever this craziness is, is not the ideal situation.