I’ve been neglecting you again. I’m sorry.
The past couple weeks have been challenging for me. In the beginning of July Rae had her follow up with neurogeneticist, a mitochondrial disease specialist.
**Note: Neurogeneticist and mito doctor are the same person. I tend to switch between calling her both.
The last time we had seen her was in November 2014, and she said, in short, “Go see all these billion other specialists, run some more tests and if she doesn’t show improvement, or worsens we’ll be thinking more seriously that this is a mitochondrial disorder.”
Since then, we’ve seen an immunologist who is still testing and talking about doing antibody infusions to boost her immune system. The hesitation is her immunoglobulins have been funky every time they’ve been tested, so they haven’t been able to figure out if that’s the best option for her yet. So we’re continuing testing and have a follow up in September. Her immunologist said to take her results to her mito doctor.
We’ve also seen her neurologist again after she started having episodes where she SCREAMS that there are things crawling all over her legs. During these episodes, she’ll sit down, hit her legs and scream and refuse to walk. We we’re hospitalized for a few days, they did a video EEG and an MRI, both of which were normal (Praise God) and we were told to up her gtube feeding schedule to continuous feeds, go back to the mito doctor as this was probably a neuropathy type feeling, which is a common mito symptom. The continuous gtube feeds has helped tremendously with her “bugs and bees” issue, but she still does it occasionally, maybe 2-3 times a month since April, which is a vast improvement. The childcare workers actually came and got me at the gym 2 weeks ago because she was doing it, after not doing it for a few weeks, which was kind of discouraging.
And we are still unsure if all her staring episodes are absence seizures or if she’s just spacing out. I’m keeping a record of every time I see her space out and I can’t get her out of it, but I don’t see a pattern yet.
We also went back to physical medicine to talk about her neuropathy feeling in her legs and now she’s having issues where her left leg will randomly give out on her, making her stumble and fall. The physical medicine doctor said her gait is uneven (her legs turn out and her hips are straight…I don’t see it, but whatever) and she can feel weakness mostly in her left side and prescribed orthotics.
So literally all her other specialists have told me to stay in touch with her neurogeneticist and thinks it’s all linked. But when we saw her last month she said right now she wasn’t super concerned about it being a mitochondrial disorder and said we should continue testing autoimmune diseases and possibly inflammatory or genetic (we’ve done tons of genetic testing, and Rae’s geneticist told us to go back to the mito doctor). She also mentioned she wants us to go to NIH, a research hospital after doing some more labs. She even asked me if anyone of Rae’s specialist (neurologist, geneticist, physical medicine, GI, immunologist, etc) had “claimed” Rae and was taking overall care of her and being her advocate, which no one has. To be honest, I was kind of looking to the neurogeneticist to do this for us, since that’s where everyone else has been telling us to go. But she seemed less concerned about it, gave us some instructions and a card for her nurse and said to follow up after our next few appointments with physical medicine, immunology and get some more labs run on her vitamin and enzyme levels. I left that appointment feeling sort of directionless, but really great about her not being concerned it was mito (though she did say she could not rule it out).
Then I get a letter in the mail with a description of her appointment and the doctors thoughts on whats next. And right there in her notes it says “CONCERN FOR MITOCHONDRIAL DISORDER” under diagnosis.
Fortunately this note was also sent to my pediatrician who called me a few days later, while on our way for Rae to be fitted for orthotics, with Rae’s lab results that the mito doctor had requested.
Low iron absorption, okay no biggie, we need to start giving her iron supplements.
And something else called her CPK level which was “sky high”. Okay…so what does that mean? And she said, it’s basically an indication that an enzyme in her heart, brain, or skeletal muscles are breaking down, causing muscle deterioration. In Rae’s case, it’s likely skeletal muscles, which would make sense why she’s having a tough time with her leg strength. So that’s slightly terrifying. I asked what we were supposed to do now and her pediatrician said to go back to the mito doctor and get a game plan.
Then I told her pediatrician the whole run down with what the mito doctor told me, versus what her notes said. I’m not sure if she’s putting that she thinks Rae has mitochondrial disease under diagnosis to cover her butt, or if she really thinks she has it, but it’s not severe enough to do anything about now, or to diagnosis her by symptoms. I DON’T KNOW. But my pediatrician said, and I quote, “She’s an idiot” and suggested we go back to Kennedy Kreiger Institute, which is the only other mito specialist around here and get a second opinion and to get someone to take her care more seriously and help us advocate for Rae the best we can.
I have literally been so torn the last few weeks.
I have no idea what I’m supposed to be doing.
The neurogeneticist she’s only seen twice SAID she wasn’t concerned about it being mito, but then in her notes its specifically says she’s concerned about it being a mito disorder. And literally, every single one of her other doctors has told me to follow up with the mito doctor and the hospital said it seemed likely that it was all linked back to mito. So I don’t know what to think. AND I DON’T KNOW WHAT I’M DOING.
How am I supposed to be Rae’s advocate when we have no idea what’s wrong and I feel like the doctor who is supposed to be helping me is not being straight forward with me. She is impossible to get into and impossible to get ahold of. Through all her neuropathy issues I never once heard back from her when we were in the hospital. And I’m sure it’s because she’s a mito specialist, she probably sees kids who are much sicker than Rae and whose issues are much worse than Raelyn’s.
But Raelyn still matters, and her issues are not small (she relies on a feeding tube every hour of every day and NO ONE has given us an explanation of why) and I’m unsure of how to proceed with her care when it feels like trying to figure out exactly what’s wrong and being proactive about her care isn’t a priority for the one doctor who, it seems, would have all the answers.
So I called KKI to get a follow up with her neurogeneticist/mito doctor up there. She saw a specialist up there in August of last year before we could get into her current mito specialist, the only reason we didn’t stay with KKI is because it’s out of network and we have to pay out of pocket for her appointments there. Even that appointment is not until November 10. Which I guess is about the same time I’d hear back from her current mito doctor. But the mito doctor up there was fantastic. She told us getting Rae’s gtube placed was the best decision we could have made for her, gave me her direct line, and when Rae had a staph infection that wouldn’t go away, when I called her she was incredibly helpful and said her GI wasn’t taking her case seriously enough and had us admitted to knock her infection out. We loved her KKI doctor, but the out of network expense just didn’t make sense for us to continue going there, so we went to Children’s specialist.
I know this post is about a thousand words longer than it needs to be, but my frustration and feeling of being lost in what to do is something I’m having a hard time wrapping my head around. I get lost in this mindset of “I’m 24, what do I know?” I feel like I have no idea how to be a medical advocate for my 2 year old. When in reality, I know her best. I’m the one who sees her tired weeks. The days where she’s exhausted after running for 20 minutes and sits idly for hours at a time. While other kids can run nonstop, and their energy runs rampant, I have days I’m going in to wake up Rae after napping for 4 hours and she’s still exhausted. I’m the one who holds her as she has lab draws every few weeks, that lead to more uncertainties and no real answers. I’m the one who spends my mornings measuring formula and heavy doses of miralax in feeding tube bags. So my frustration is why can’t we figure out what’s wrong? I hate feeling so helpless and lost.
My prayer the past few weeks has been for guidance. I’m just begging God to help me figure out the right decision. Should we stay with the current mito doctor, or continue her care at KKI, which will be expensive and potentially won’t give us any real answers either. I desperately want someone to help me, someone to tell me what I’m supposed to be doing to help Rae the best I can. Maybe someone can give us some insight into why she has funky immunoglobulins and high lactic acid build up in her muscles constantly and why she has elevated CPK and all the million other lab findings they haven’t been able to piece together. What does it mean and what should we be prepared for next? It’s terrifying to me that 2 years ago the only issues Rae had were being constipated and she wasn’t gaining weight. Now we’re onto continuous gtube feeds, fatigue, muscular issues, orthotics, neuropathy, immune system issues, and it feels like it won’t end and things will just keep popping up and I’m not prepared.
I may not know what to do next, but I do know I serve a God who is a greater physician than any one we could decide to take Rae to for her care. He has His hand of protection over her at every moment, even in the uncertainty.
“You are my rock and my fortress, for the sake of Your name lead and guide me” Psalm 31:3