This is super long, so feel free to take a break and come back to this if need be… 😉 I’m sorry it’s been so long since I’ve done a proper update. Too much has happened. :O Thank you so much for all your prayers, cards, and emails! You fill my life with joy time and again.
On January 17, my parents and I saw my mitochondrial specialist in San Diego. I have now seen him in clinic 5 times. At this appointment, he looked over all of my muscle biopsy results (the electron transport chain enzyme analysis, the mitochondrial DNA content analysis, muscle CoQ10 determination, electron microscopy, and histology). In the mitochondrial electron transport chain, there are 5 complexes, and all 5 complexes work together to make ATP (energy). Well, the analysis that was done shows that all my complexes are deficient (low). They’re all deficient because of my significant mitochondrial DNA depletion. My muscle CoQ10 is also very low, so I have to switch to a more potent form of CoQ10 (called Ubiquinol….I actually was taking this before, but it’s very expensive..). Based on all of the information collected, my mito specialist says I have a definite (no longer probable) mitochondrial disease—specifically, a mitochondrial DNA depletion and a mitochondrial depletion. Haha, you’re probably wondering if I’m repeating myself.. 😉 But no, those are actually two different things (I won’t try to explain the difference.. lol). He’s never had a patient with both! So he wanted to take a picture of me, and he plans to bring up my complex case to his colleagues..
He wants me to have yet another genetic sequencing panel done (hopefully my last!), but this one will look closely at all the depletion genes and even check for deletions.
My mito dr. also wants me to be a part of this certain registry of 200 patients. I don’t know a whole lot of information yet (hopefully in the next couple weeks), but it’s related to the clinical trial that he’s currently a part of. I’ll definitely keep you posted. 🙂
All in all, it was a good appointment and a lot to take in again. My muscle biopsy results are much worse than my first biopsy back in 2014, and we don’t know if this is disease progression or what..
He wants to see me back in 6 months, but we’ll probably see him in a year or longer instead (especially since I heard back from that mitochondrial geneticist in Pasadena, CA—I will be seeing him this May!! 🙂 ).
On January 18th, I had an appointment with the medical director of the UCSD pain center. It was very helpful. He gave us a lot of information on medical cannabis and how much it can help nerve pain, muscle spasms, and more. We have endocannabinoid receptors all throughout our bodies, and that’s why patients usually respond well to medical cannabis. I hope to eventually trial CBD oil (FYI, I’m not interested in the psycho-active types of cannabis..lol ;). This pain dr. works very closely with a Ph.D. in botanical medicine/horticultural studies. She actually is a naturopathic physician and can do phone appointments with patients who live out of state. So I have a phone appointment with her on February 23. She’ll help me with dosing and tell me what type of CBD oil is best for the small fiber neuropathy that I have.
I had my port surgically placed on January 27th. Surgery went well, but last week was so rough. :'( My nurse wasn’t able to access my port. She tried 2 different sized needles, and for some reason, my port wouldn’t flush even though she poked me 4 or 5 times. 🙁 It was so very painful and complete torture since the surgery site was so fresh. She even had another nurse come over and try accessing, but that nurse didn’t have success either. The nurse came again 2 days later to try once more with another needle size. But again, no success. My nurses have accessed hundreds of ports, and they said this has never happened before. 🙁 I even pulled off with my hands all the surgical glue over my incision in case it was “plugging” the hole of the needle.
I had to go without IV nutrition and IV magnesium for 3 whole days. I was finally able to get an appointment at the OHSU infusion clinic this past Friday, and by God’s grace, the nurse was able to access my port on the first try! We’re not sure if it’s because they used a power port needle with a bigger gauge (my home health infusion company only carries a basic port needle). I wish the needle didn’t have to be so thick, tho!
So glad that the port is now working…. 🙂 My GI dr. was worried I was going to have to head to the ER and get a PICC line placed in my arm if this infusion nurse couldn’t get it to work..
The deep vein thrombosis (blood clot) is actually located in my subclavian and axillary veins. There’s no blood flow through those veins. 🙁 I had a chest CT scan right before surgery, and thankfully, it showed that the clot does not extend down into the superior vena cava. But I have to get another venous duplex ultrasound scan next week to make sure that the clot has not grown. If it has, my OHSU hematologist (who is nationally known!) will decide on what to do and if I need to be placed on anti-coagulant therapy….but my case makes things more complicated, so we’re praying that doesn’t happen.. Also, research has shown that blood thinners don’t really help catheter-associated DVTs.
Phew! I think I need to take a break typing this… ha ha 😉
I saw my neurologist on January 30th, and she is going to work on getting insurance authorization for the depletion gene sequencing panel that my mito specialist wants completed. She is also upping one of my medications that I take for my headaches as they are not quite under control yet..
This afternoon, I had my monthly follow-up with my GI specialist. I will be having my weekly blood work drawn tomorrow, and he wants to see how my electrolytes look, especially since I went without TPN/IV Mg for 3 days last week and lost fluid weight. He’s also going to keep an eye on my blood counts since I’m starting to become anemic again. 🙁
Next week, I have appointments with physical therapy (twice), diagnostic imaging, pain medicine, and general surgery. And I’m dreading it because they’re on Monday, Tuesday, Wednesday, and Thursday….and all at the OHSU Center for Health and Healing. Lots of driving.. :/ OHSU is building a guest house right next to the center, and it will be completed next year! 🙂 I hope I can stay there whenever I have several appointments in a row because I just feel sometimes like I live at OHSU..
P.S. One last thing, and then I’ll stop (could this be my longest post ever?! 😉 ).
This week is Feeding Tube Awareness 2017!!
For those who don’t know, I have a feeding tube inserted in my jejunum (part of my small intestine). I receive a peptide-based (broken-down) formula. I also recently started putting through my j-tube an organic grass-fed whey protein nutritional shake (that I found online and is also sold at stores like New Seasons and Whole Foods). I tolerate it well…maybe even better than the peptide formula! And I love that it’s organic, grass-fed, and even contains fruits/veggies! 😀
I also have a port implanted in my chest. Every single afternoon, I receive 4 grams of IV magnesium through my port from about 4-8 PM. And every single night, I infuse TPN (IV nutrition) through my port. After each infusion, I have to flush my port with saline and heparin. Before my feeding tube and all the central lines I’ve had, I was malnourished, chronically dehydrated, and labeled “failure to thrive.” It’s hard having a line and a tube coming out of me….and it’s hard being hooked up so often….but I’m very thankful I’m no longer dehydrated and malnourished!