Lots has happened in the past month, and a lot is coming up for her.
This month will actually mark the one year mark since we knew something was off and started testing.
If you recall, when Rae first had her g tube placed, she somehow got a crazy infection that kept us in the hospital for ten days. Well, a little over 2 weeks ago, the same redness came back. We got her into see her GI and they put her on strong antibiotics and told us to keep an eye on it and if anything changed to take her back to the hospital. We spent that whole weekend with a packed bagged in the car. Fortunately we made it without having to take her in. They did culture it and it came back as another staph infection. I felt super guilty, like it was my fault. I thought that I had not cleaned her site well enough, but her GI said that wasn't the cause at all (and also told me I'm one of the best moms she sees, which totally made my day) and that the infection is her body's way of rejecting the tube and will get better over time.
So that has mostly cleared up. It's come back a few times, but since she's done with her course of antibiotics now, we will reevaluate at her appointment on Wednesday. If it isn't fully cleared up, she will have to do IV antibiotics. We are hoping if this has to happen, she can have a PICC line placed and we can do them at home so she does not have to be admitted again.
Once the infection is fully cleared up, she will be able to have her tube changed from a PEG to a button, which is much lower profile and has no excess tubing hanging down when she's not hooked up to the pump.
Also new, she had an evaluation with a program called Early Intervention. They'll help her with some of her muscle weakness and social issues and work on her speech some, too. She'll have OT twice a month and PT twice a month. So once a week we'll be having her in some sort of therapy. At her evaluation they did tell me they couldn't fix her piegon toe walking and that she needs to go back to her orthopedist. They also referred her to an ENT since she has had over 6 ear infections, so they want to check her hearing.
We have an appointment with the ortho on Sept 24 and they'll fit her for specialized shoes or braces for her legs that will help with her gait and straighten out her legs. She may also have to see an orthotist, who specializes in feet.
Our biggest update though is that she did get into seeing a mitochondrial disease and a metabolism specialist at John Hopkins (the Kennedy Krieger Institute) in November (possibly sooner, since I stay at home I can take her if they have a cancellation, which they said is likely). Big S and I recieved a huge blessing that made it possible for us to pay out of pocket for her care at John Hopkins. Our insurance denied paying for her to go before, they wanted us to exhaust all our options in state, but now we are able to take her to some of the best doctors in the country! We had to apply to even see if the doctors thought her case was worth looking into and they did. Which is great, but kind of scary too. It makes it more real that her diagnosis could really be Mito. But any diagnosis would be a relief to start moving forward with her care.
For those curious, mito does not have a cure. It's a progressive disease that affects all the major muscle systems. Rae is suspected because she has symptoms affecting multiple systems (GI disorder, muscle weakness, poor growth, increased risk of infection, and mild developmental delays) and has had some markers for mito picked up on her lab results. Getting a diagnosis is incredibly hard. We are doing a mito DNA test within the next few weeks, but only 25% of mitochondrial diseases are picked up in this test (if I understand correctly, it's only maternal strains of mitochondrial diseases that are picked up on this test, meaning I would be a carrier or have mito as well if it is picked up on this test). So even if it's negative, she could still have mito. There's also a muscle biopsy they could do, but it's invasive and very painful from what I have read. That will probably be a last resort. I'm hoping if she does truly have mito, the specialists at JH can make a clear diagnosis based on her symptoms and the lab work she has already had done.
Like I said, mito has no cure. So if this is what she has the course of action will be to consistently monitor her muscle systems to make sure they aren't starting to fail. She'd routinely see a pulmonologist, cardiologist, a mito specialist, her neurologist, her GI, her orthopedist, and continue with the therapies she's already doing. Her g tube would also most likely be a much more long term thing, since nutrition is obviously a key component to keeping her muscle weakness from progressing. Not all mito patients have rapidly progressing muscle issues, which is incredibly reassuring. She could remain stable for years, which gives us a lot of hope!
The more I think about what a mito diagnosis would mean for our family, while it does scare me, I also have a lot of trust that Gods going to always, always, always keep His arms wrapped tightly around Rae. She has had so many ups and downs this year. She has had so many illness and tests and has been poked and prodded and traumatized. But despite her year, she's thriving and doing really, really well. I praise God for all the tests that came back negative. And I praise Him that I get to be this little girls mama.
God is within her, she will not fall.
Psalm 46:5
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