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Looking for people like me.

Posted , 3 users are following.

will24
will24

A little about me ,27 years old male-

About 5 years ago started having a hard time breathing at night, went from a weight of 210 pounds to 160 in 3 months, started getting weakness in hands, calfs, and face. went to doctors and discovered i had high potassium and liver count likely due to muscle breakdown, was sent for an emg which showed their may be a problem, was sent to als specialst who did another emg, was then sent for muscle biopsy and genetic testing. 

Got muscle biopsy results last month and based on them was diagnosed with a rare myopathy causing progressive respiratory weakness and swallowing weakness. likely a multicore myopathy or a  mitocondrial myopathy. currently waiting for more genetic testing to come back and part of the  muscle biopsy was sent away for more advance testing.

Muscle biopsy report: unevenness of NADH-TR staining aswell as Cox staining with ill defined patchy areas in both muscle types of fibers. the electron microscope shows fibers with misalignment and rare foci with z line streaming and disruption of myofibrillar structure. sarcomeres possess thickened and fuzzy Z-lines occasional subsarcolemmal filamentous bodies are seen. there are fibers with mitochondrial aggregation, glycogrn aggregation is noted focally in occasional fibers at both subsarcolemmal and intermyofibrillar sites.

Their is currently no treatment a nd i cant take pain meds for muscle spasms as theyl make breathing weakness worse, specialst wants me to start using medical marijuana.

0 likes, 6 replies

6 Replies

  • ellen1964
    ellen1964 will24

    Posted

    Hi

    So sorry to hear about your "problems"

    I have a general muscle weakness which I first noticed in my right calf. The muscle here was noticably quite deteriorated.I walked with an odd gait and my lower back was painful if I walked too quickly. After seeing various doctors, neurosurgeons and neurologists I was referred to a Professor Volker at Newcastle who specializes in genetics. 

    I too have had EMG's ,MRI,s and a muscle biopsy. My CK blood level was only slightly raised but EMG and MRI showed significant muscle changes and fatty deposits. Luckily my respiratory and cardiac tests were ok, only showed moderate prolapse of mitral valve. I had further blood test at Newcastle in July and I am awaiting results which apparently can take 6-12 months as they are looking at more than one gene. The professor thinks my symptoms may point to a sodium ion channelopathy but is also testing for limb girdle muscular dystrophy.

    I hope you get some answers soon and something can be done to help. I take 20mg of amytriptaline at night to ease muscle spasms and this allows me to get some sleep.

    Regards Ellen

    • will24
      will24 ellen1964

      Posted

      i was negative for the muscual dystoprhy mutation, atm they are checking for mutations in ryn1 gene, my ck was eleavted one time to around 5000 but its usually around 200ish.

      i have found a lot of relief of my muscle problems through natural remedies, usually everynight i i have hot water and mix in cayanne pepper, tumeric, and cinnamon and it actually seems to help alot with the muscles and their energy levels incase your interested.

  • terry62719
    terry62719 will24

    Posted

    Hi will omg you're going through it arnt you, there's so much that can go wrong with muscles etc it's unbelievable have you tried what they've suggested yet. I'm being referred to see a specialist in London Mary Riley who also looks at genetic nuerologicsl problems so I may or may not get figured out. Please keep me in the loop on your progress hope you find some relief / help regards Terry neurological

  • will24
    will24

    Posted

    I have a consultation on the 15 for my medical marijuna card so i will know more then.

    The most frustating part of having a rare gentic condition is dealing with doctors who know nothing about it. i went to get my results from the sleep study the othernight and the convo with the breathing person went something like this.

    Him- so your o2 levels were ok but you only slept for 2 hours. Me- yeah diaphram weakness usually only occurs when in a deep sleep so that is why o2 levels were ok, i also didnt do much physical work that day to make it worse. him- that is not how it works. Him- based on your previous pulminary test you do have breathing weakness. Me- yes it is alot worse on days depending on what degree  of physical excerise i do. Him- it does not work that way. and atleast 3 times he used the pharse " if you have a progressive muscle disease", and each time i had to reply umm i just showed you the muscle biopsy report stating that i do...

    Another example" went to eye doctors- showed him biopsy report-told him eye symptoms and that it points to eye weakness", him- it looks like it could be eye weakness because i kept not passing the visual field test but it does not seem too bad. Me- Eye pressure and weakness can be alot worse later in the day than in the moring so i should probably make an app for the afternoon. him- nono morning is best for eye weakness.Him- i will see you again in 6 months in the morning, i think we should jsut monitor you for glucoma. Me- argrgrgrgrgr walks away.

  • will24
    will24

    Posted

    Tried using medical marijuna todaycool and it helped with the facial tightness a bunch and made my sinuses clear up, seems like it helps some with the pain to, the stuff is just very expensive

  • will24
    will24

    Posted

    UHHH so got a letter in the mail today.... Saying The Als specalist would like to see me in 3 months... followed by more advance pulmonary function test due to my recent breathing test results i had done localy... guess that means the genetic testing for myopathys didnt show anything so iam back to seeing the als specalist.
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