I finally am doing the Q&A post! It's been in the works for weeks. As always please excuse any typos or errors. As usual this is a product of insomnia.
Are you on bipap constantly, not just at night?
Yes, I am on bipap all of the time. I can always tolerate being off for seconds to minutes depending on the day. Sometimes, removing the mask for moments causes me to immediately start gasping and struggling for a breath. This happens almost solely during a flare, its usually not to hard for a few minutes if I'm quiet and still. My daytime breathing is always better than night and I can usually handle being off few minutes to half an hour on average so long as I'm still and not talking, although certainly very uncomfortable. Often my breathing becomes shallow with long pauses between breaths when I try to do things with no bipap. I get dizzy and disoriented. My record off bipap is one hour, and that happened as I tried to push my limits. When I'm lying down or especially sleeping I will sometimes wake up because I had an apnea. They are much less frequent now from what I can tell. I don't have that alarm set anymore to let me sleep better.
(1) how old are you and (2) whether you've been symptomatic of mito your whole life or from what age did your issues arise?
(OH and one more - is the wheelchair for you due to fatigue? how long have you had one?
I'm in my early 20s. Symptoms from birth are esotropia, weak eye muscle that drifts out/crosses. As long as I can remember I've had POTS symptoms, mottling, subluxing joints, hypermobility. My sister has the latter as well and had severe pain growing up. I had chronically twisted ankles and could replace any joint half asleep, the time it happened the most. Things progressed as I aged till I was constantly sick and in pain 11-13 years ago and totally disabled at 18, almost 5 years ago. I finally became TPN dependent 2 years ago after battling it for a year. Eighteen, about 5 years ago, is also when I first needed a wheelchair. I'd been struggling awhile but a sudden progression made it impossible for me to ambulate myself. As I'd collapse trying to walk from pain and absolute exhaustion and weakness. I've needed one for various reasons including ataxia and hemiplegia/hemiparesis. Now it's mostly because I get tired vs just muscle weakness as my respiratory status makes everything a struggle.
what do you do with your j tube now that you are on TPN?
Going to give the long answer so it makes more sense. I received my jtube 2.5 years ago. I was on tpn a few times once just a short Time inpatient another several months before becoming dependent from what we thought was an overcome-able flare. I had been on NJs for 7months and my one nostril is swollen shut if I get the least but stuffy from the damage. Every time I swallowed u cried it hurt so bad, & an ulcer was developing. Dr. Gisela pulled it right away and started TPN, and tried to get me on oral food with a motility med before going ahead with a surgical option. I was happy to try and when it failed we decided on the J in October. I never did tolerate feeds well either. She found my small bowel makes no MMCs on it's own. We added octreotide a few months later in January. Tried gastric pacing. In may I was on tpn again due to weight loss etc. My J now is so so helpful. With my two motility meds I can sort of absorb meds for my bladder, POTS, complex migraines, and one of my pain meds. These meds are either not available IV or not safe for me to do IV.
I also frequently get asked what are the conditions I have.
I have suspected Mito or some multi system genetic disorder. This causes chronic respiratory failure, severe GP and intestinal dysmotility, HMS (and all the issues that comes with it like esotropia, scoliosis/lordosis, subluxations, and more). A main issue I have is dysautonomia (temperature instabilities) and hypovalemic postural orthostatic tachycardia syndrome. A channelopathy or stroke like episodes has caused a lot of hemiplegia in the past, for long stretches plus short episodes. This supposed channelopathy responded to meds along with meds for complex migraines so it's hard to know as meds overlap. CMs are an ongoing problem (confusion, ataxia, and aphasia at their worse. Thankfully fairly controlled to just the first symptom being present & short episodes). I also deal with Neurogenic bladder, anemia and chronic hypokalemia.
Thanks for reading and being apart of my quest to educate!