You know those stupid questions you ask the doctor that you’re 99% sure you’re just being a paranoid mom about? You’re mostly just looking for confirmation that you are indeed, still crazy and everything is fine. I had a bunch of those questions this morning for Rae’s 2 year check up.
If you’re new to the Rae saga, she has had a gtube (feeding tube) for over a year now. She has chronic constipation, muscle weakness, episodes of regression, failure to thrive and recurrent staph infections, and immune system issues. She has had countless amounts of labs, an MRI, an EKG, an echo of her heart, a barium enema, and an endoscopy. She’s been evaluated by a GI, neurologist, geneticist, neurogeneticist, cardiologist, nutritionist, ENT, immunologist and physical medicine specialist. She’s been hospitalized twice for her feeding tube placement, which extended to 10 days due to infection, and another time for persistent staph. They have not been able to nail down a firm diagnosis for her yet, but they have been leaning towards mitochondrial disease since last summer.
Anyway, so all this is to say, today I asked about 2 things. One, her legs and two, her staring.
Rae’s had a few times where she loses her balance for no reason. She’ll cry out that her legs hurt when nothing has happened to her. And she sometimes will just fall over when nothing is around to push her over. But in the last few months I’ve seen it even more so. She’ll get up from sitting down and wobble back and forth, taking steps forward and backwards trying to get her balance, but she can’t. The worst I’ve seen of it was last week after our run. She was in the stroller for about an hour 20 minutes and when she got out she couldn’t walk. She couldn’t stand up without swaying back and forth, unable to get her balance. So our pediatrician said this is something to talk to the mito doctor about. It may be that she needs nutrition every hour to maintain balance and strength in her legs.
Then I asked about her staring. Rae’s done this pretty much forever. She’ll stare out into space and I can’t get her out of it. It’s very random, she’s done it on the playground, while she’s eating or watching TV. She’ll just stare blankly out into space and I’ll get in her face and say “RAELYN. RAELYN.” I’ll wave my hands in her face and nothing. She’ll continue to stare. To me, this was just her weird thing. I didn’t think it was anything to be concerned about until my mom saw it last week and said how that wasn’t right so I asked about it. My pediatrician stopped and looked at me concerned and said “that’s probably a seizure.” WHAT? Seizures are falling on the ground, convulsing I thought. I didn’t even know that was a thing. So we talked for a few more moments about how long they last (between 10 seconds to a minute maybe? I haven’t timed them. I thought it was just her zoning out) and then she said to call the neurologist ASAP and get her in to do some scans and find out if they are indeed seizures. She went on to say if they were, this was definitely a mito thing, something common in mitochondrial disease patients. A diagnosis I want to stay far, far away from since there is no cure and there’s no real treatment, other than treating the symptoms.
My heart feels like it’s in my throat, and I kind of feel like I’m about to vomit. I’m staring at Rae waiting for her to stare out and see if I can get it on video to show her doctors. I’m anxious for Friday, when she’ll see her neurologist again. I don’t know what they’ll say or what kind of testing they’ll want to do.
There have been a few months where things have felt normal. We decreased her therapies and her appointments were slowing down. Everything was mostly just “maintenance” work to make sure she kept her weight up and waiting for immune system test results. And now it feels like things are getting worse. With her immune system results being funky and now the possibility that she’s having seizures, I’m terrified. Gtube, I can handle. It’s old news, we got this figured out. GI issues, no big deal, we have her medication that keeps that under control. Muscle weakness is controlled by her nutrition so we just have to keep her feeds on schedule. But now this?? More testing for immune system and the neurologist? AND the possibility of having to do day feeds to keep her muscle weakness controlled? I just feel like she can’t catch a break. I’m frustrated for both of us. I just want to leave one appointment feeling like she’s going to be okay. I want to leave feeling like this will end, but every time it feels like there’s another issue or another illness or another thing to test for.
I KNOW God’s got this. I know He does. One day there will be a mom I can relate to and a story I can share to help her get through it. But right now I don’t have that for myself. I don’t see why this is happening to my baby and I’m just so frustrated. I want her to be normal. I want her to be physically strong and I don’t want to feel so emotionally weak after leaving her appointments.
Friday at 9:10 is our neuro appointment. If you could be praying for us, I would so appreciate it.