I know I just wrote about Rae, and this is one of those times when what I write probably seems like nothing to you. But to me, this is major.
We received a letter from Rae's geneticist on Wednesday. We're sent her synopsis from every appointment a few weeks after.
Rae's geneticist is not my favorite. When Rae had mito markers picked up on her lab work after her first appointment and I asked about doing more testing to further see if she meets the criteria, she said she "wasn't in a rush to do more testing since mito has no cure so we couldn't do anything anyway". She's also said conflicting things about Rae fitting the "typical" mito diagnosis, saying at one point that we should just wait and "see if she gets any sicker". Then several minutes later said she had seen kids with mito with Rae's exact symptoms...
Anyway, so super frustrating, and one of the reasons we decided to go to Kennedy Kreiger. But in the end we did retest everything we needed to and she did think that a mito DNA test and looking into mito was a good idea.
So this letter we got, it's not like there was any shocking information in it. It was sent to me and our pediatrician. It just basically went over what we talked about and the testing we would do and then said
Due to 2 episodes of regression and failure to gain weight, this patient meets criteria for a mitochondrial disorder. Hence, genetic testing for this condition is warranted. Mitochondrial disorders can benefit from certain medications that can prevent further regression, or fast progression of the disease. There are also medications that need to be avoided when this condition is confirmed by genetic testing.
I don't know why, but that paragraph just feels like a punch in the stomach. We knew Rae was suspected for mito, but seeing it written down under "suspected diagnosis" and knowing that this isn't a "well maybbbbbeeee it's mito" like it was maybeeeee CP, or maybeeee cystic fibrosis, or maybeeeeee Celiacs, or a diary allergy or Hirshprungs, or a bowel obstruction, or IBS, or maybeeeee whatever else they can grasp at. This is now, she meets the criteria, she could be diagnosed even without any of the lab markers she has. This is probably as close to a diagnosis as well get until we get her in to the mito specialist at Kennedy Kreiger.
But the worst part is, those 2 sentences that say to me, "Hey there are some things we can do to help your daughter. But let's just wait and see for a little while longer". My head has been going a thousand miles a minute thinking of what medications she should be on and what medications she should be avoiding. I've been filled with anxiety about her upcoming gtube switch and the anesthesia they'll use to put her under.
Plus, I thought about it before, but getting confirmation that this is what Rae has sets in the hugeness of it. This isn't going to go away. Mito has NO CURE. It's not something we just have to get through and one day it will all go away. This is going to be a life long thing for us. This is something Big S and I and Rae and everyone directly connected to her is going to have to be so knowledgable about for the REST OF OUR LIVES. She's not going to get better, and there's a good chance she could get worse. I follow my cousins friends blog (weird connection. I know) whose daughter has mito who messaged me almost a year ago when this all started with Rae and told me how her daughter first showed mito symptoms exactly like Rae. Exactly. Like. Rae. And now she's 6 and has a cannula to help her lungs. I've seen her posts about mito crashes and hospital visits and the never ending doctor visits (we know about that now). But it terrifies me the hugeness of this.
And I don't feel equipped.
I've been plugging away a day at a time.
But now it just feels so incredibly overwhelming.
She's playing in the living room with Little S while I'm in the kitchen typing this.
She has no idea.
She doesn't know why she carries a backpack or has a feeding tube.
She doesn't know any different than having a nurse visit her every week.
And she won't know that PT and OT aren't for everyone.
She doesn't know that she has a disease that most people know nothing about.
She doesn't know that her life will be filled with constant monitoring and clouds of worry covering her.
To be honest, I'm very anxious for the official diagnosis. Or at least a general mito diagnosis. Even once it's determined mito, the next step will be to figure out what strain of mito it is so we know what to expect in the years ahead. But until then it's going to be very hard looking at Rae on her bad days and know there are some medications out there that could help her, but we don't have them. November 25 can't come soon enough.
Do not be anxious about anything, but instead pray about everything. Philippians 4:6
I'll try my best to keep this in mind over the next few months,
M
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