Recent content by Shayne_G

Mike, what was the name of the gene they tested for exactly? I have had extensive genetic testing done with no answers. Namely: Invitae Muscle Glycogen Storage Disease Panel Primary panel (14 genes) ALDOA, ENO3, GAA, GBE1, GYG1, GYS1, LAMP2, LDHA, PFKM, PGAM2, PHKA1, PHKB, PYGM, RBCK1 Add-on...

+1 on that. I took a normal dose of NSAIDs (ibuprofen) the last time I felt an episode coming on and that seemed to relegate the symptoms and allow me to workout as normal. After a couple days of working out, I was over the hump again and back to baseline. Since all my metabolic tests came...

Hey everyone - Just checking in and seeing if anyone has any new ideas or made any progress... I am right back to square 1 again and being referred out to other specialists since I have exhausted my current ones. I had a faux episode after taking 2 days of light spinning and had that initial...

Welcome, SB23. I apologize for being MIA for a bit, I was waiting for everything to come back before I posted again...It is not McArdles disease, or Tarui's disease and they are now unsure if it is a metabolic disorder / glycogen storage disease. The kicker is, they are unsure if they have...

Re: My symptoms also occur after rest days, that was the reason they performed the biopsy after a block of training. The muscles cramp and go into contractures due to its energy demands not being met. This can happen at any time of the exercise, but strenuous exercise does seem to make it...

Hey Clarky - Call me stubborn (or stupid), but I love cycling and competition so passionately, I can't see living my life without it. I am optimistic once we nail down a diagnosis we can find a management technique for it. I am seeing the nutritionist today to discuss what the best dietary...

Re: Re: Hi Budegan - I have actually been back on the bike for ~1 week. I haven't been doing anything strenuous obviously, but just some 30-60 minute z1/2 spins to keep the muscle memory going. Technically I have another 4 weeks before I can do anything strenuous to allow for full muscular...

Hey everyone - I met with the neurologist today. They did confirm it was a metabolic myopathy, and a glycogen storage disorder, BUT they could not give me a definitive diagnosis. The working diagnosis is McArdles disease, but they are still waiting on 2 more tests to return from the biopsy to...

Re: Nothing was concluded, but all signs are pointing to a metabolic myopathy at this point. They are going to do further testing on the sample as well as look at it under an electron microscope to try and figure out which metabolic myopathy it is. If this in inconclusive, the next step is...

Hey everyone - Here are the preliminary results from my open muscle biopsy, please pass this along to anyone who would know anything and give me your opinions too. They are going to do further testing for metabolic specific issues and I will be sure to pass those along too. ------ Study...

Re: That is great news! I am happy you were able to avoid a full blown flare-up :) One of the things they are checking for with my muscle biopsy sample is evidence of myositis. This would jibe with the symptoms getting better after you double dosed on Naproxen (NSAID) as it would decrease...

Re: Say it ain't so! That would totally suck for you if it rears its ugly head again and turns into a full blown attack. My fingers are crossed it won't. I underwent the muscle biopsy yesterday and my quad is SORE as hell today. I am meeting with my neurologist on 2/16 and hope to get...

Re: This is the reason I don't think it is McArdles disease...I can't pedal through it either and never have experienced that second wind phenomenon everyone who has it speaks of. Glycogen replacement usually takes >48 hours if the athlete is training heavily (which we all are (were)), so...

Thanks everyone, I hope to get results back within 2 weeks post-biopsy and will be sure to fill everyone in accordingly. My feelings are the cramps are being caused by the increased creatine kinase and not due to being over-saturated with glycogen. I don't think your body can over-store that...

It will be well worth it if I can get to the bottom of this!