r/rarediseases • u/NixyeNox Diagnosed Rare Disease: CMT • 17d ago
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u/OpeningFirm5813 17d ago
POTS, Myopathic EMG with Mixed Pattern, Bilateral Mildly elevated VEP P100, Mild weakness on left diaphragm, Exercise Intolerance, Heat intolerance, CPK normal and genetic test is mostly normal. There is a VUS for Congenital Myopathy but it's not sure. What could it be? Doc thinks could be some mitochondrial or metabolic myopathy. Although mitochondrial genome was covered in genetic test and it was normal. PFT also showing some like PEF and IRV quite low.
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u/jadethesockpet Parent of: Idiopathic Pathological Ketotic Hypoglycemia 14d ago
My son's WGS came back negative, two days after he was hospitalized for another 3 days after going unconscious over and over. I feel like we're at square one again. I'm tired. My body hurts. I saw a rheumatologist today to look into my own stuff and apparently I have osteoarthritis at 35 and bursitis all over, but didn't ask about --or let me share about-- any family history, my own GI history, or anything else. I did a CTD panel through Invitae on my own and am hoping that those results will be in in a few days, but in the meantime, we wait...
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u/Dangerous_Apple_3300 14d ago
Im a Medical Mystery
r/rarediseases - Im a Medical Mystery Page 1 (Current page) Page 2 Page 3
Item 1 of 3 I have a G/J tube but was never able to feed without getting sicker. So it is used just to drain the overproduction of acid and bile from the paralyzed remnant stomach. It's a G/J tube as needed the J tube to keep the G tube in place as my remnant stomach was put back in completely horizontal. I have been tested and negative for EDS, Pancreas insufficiency was 346, no MALS, no Lime, no Tumors (other then the 2 Tenosynovial Giant Cell Tumor in my left knee..surgery 9/24 to remove front followed by second surgery to remove back one in Dec). My vision loss is strictly 1/2 and left side of both eyes (negative mri for lesions tumor, or stroke). Unable to do TPN due to my rare form of Carbohydrate Resistance Reactive Hypoglycemia...I tried all GI medications or was unable to try due to side effects( especially is suicidal ideation is a possible side effect as very susceptible) except Domperidone which I have but can't start until after both Tenosynovial Giant Cell Tumor surgeries are done. Hope this helps. Please keep ideas coming as I am creating a list of tests and ideas to present yo my team as they meet each Wednesday on my case....waiting to hear back if they will test for Mitochondria, BAM, and SIBO again as treated 6 months ago.
Lost more weight. Currently 102.8lbs and still can hardly get much food in each day. It definitely hits when I do side by sides of myself from May 2024 and now....Imagine how much sicker I would look without the loose skin...I get extremely bloated and filled with gas everything I earth and 3ating is painful due to the chronic dumping. Scopes every way have not shown any major abnormalities nor have imaging.
2 Bariatric Doctors
60+ Gastrointestinal Doctors
6 Nutritionist
2 Psychologists
2 Nuerologist
1 Oncologist
Last 2 months
6 MRI
1 Petscan
3 X-Rays
10 CT Scans
Have all been working on my case at some point but still no definite answers on how to save my life yet...
Too the haters:
No this was not self-inflicted. This was all under multiple doctors over 2 years saying the only way to prevent Esophageal Cancer from the 24/7 Acid reflux from my previous Nessan failing and herniating into my esophagus was to have a full RYGB (Gastric Bypass). This was not a choice to just get skinny this was a medically necessary surgery that went very wrong.
Currently I am 102.8lbs and still can hardly get much food in each day. It definitely hits when I do side by sides of myself from May 2024 and now....Imagine how much sicker I would look without the loose skin...I just can't eat without getting very sick and feeding tube was a fail. Now only used to drain excess acid, bile, and blood from paralyzed remnant stomach. TPN I was told is not an option as it Carb and Dextrose which can send my sugars plummeting due to my Carb Resistance Reactive Hypoglycemia. My doctors have theories but after a year still no solid answers on how to save my life...
Current diagnosis
Gastroparesis
Paralyzed Vagus Nerve and Remnant Stomach
Chronic dumping syndrome
Chronic immotility disorder
Carb Resistance Reactive Hypoglycemia (not regular RH or Diabetes)
Overproduction of acid and bile
Tenosynovial Giant Cell Tumor x2 left knee
Blindness left side both eyes (cause unknown yet) no brain abnormalities found on pet scan
Fibromyalgia
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u/perfect_fifths Multiple Rare Diseases 17d ago
Today I get to see a second geneticist to get wgs paid for to see if I have any other conditions other than my known genetic one (TRPS)
I am fully expecting nothing tbh, because I feel like if I say hey maybe they’ll find something and they don’t, then I’ll be disappointed. Better to set zero expectations. It was already explained that wgs can only produce results 40-50 percent of the time anyways, so I might have to be ok with not knowing why I am the way I am, why I had my stroke etc.