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6 thoughts on “Contact Us

  1. My husband has multiple symptoms of Myotonic Dystrophy and we are in the evaluation/diagnosis stage of things.
    His swallow problems started a few years ago when he had difficulty with some foods.. especially dry chicken, pancakes things like that. And around that time he also started having trouble swallowing pills, to the point that now he only swallows one at a time regardless of size. all of this kind of flew under the radar.. and no one really gave it much attention. (I think my husband thought it was all in his head).
    Until a few months ago when he was diagnosed with aspiration pneumonia and difficulty holding up his head.
    He has severe sleep apnea which CPAP does not seem to do much for. Except they think he aspirated secretions at night and the CPAP helped “blow” them further into his lungs.
    He had a EGD a few months ago and the GI doc stated that he had a very difficult time passing the tube.. that the muscles were very tight in the esophagus, he had to use a lot of force to pass the tube. But again that was brushed over as a single problem.

    Now I am looking at all of his issues and trying to put the puzzle together… aspiration pneumonia, difficulty swallowing , difficulty holding up his head, trouble climbing stairs and using a ladder, sleep apnea, excessive sleepiness during the day, lower than average O2 levels, neuropathy in his feet…
    It takes months to get an appointment with a neuro-muscular specialist in Delaware. We have been to so many types of docs, for each symptom it seems but we need someone to put it all together.
    My husband is 58 and it seems that these things have been happening gradually over the past few years.. but the last few months they seem to have escalated. Any thoughts especially about the swallowing and the EGD would be welcome..
    your captcha not working

  2. Hi,

    I found your page when I googled muscle cramps and insulinomas… I have every symptom for myotonic dystrophy and am going to ask my neurologist about testing me for it, but I was wondering what medications are generally used for the muscle cramps and stiffness… I’ve noticed when I take antiinflammatories, they seem to help a little… more than the muscle relaxers, etc. They’ve tried keppra, flexoril (just makes me tired…), orphenadrine (works through the iv but not as much by mouth…) I really need to figure something out, everything we’ve tried hasn’t worked very well… I also have bradycardia so everyone is leary about what we use for the cramping… I’ve also had cataracts removed and already had to have some additional lasering for spots on my eyes…

    My legs will lock up, I get in a hot tub and sometimes it helps, but most times it doesn’t and I have to get out because by that time, I’m exhausted… I will take any advice I can get… I’ve even tried drinking pickle juice… I thought I could walk in the grocery store the other day and my whole left side cramped up when I was in the back of the store and I didn’t know if I was going to make it out and I had all three kids with me… I’m not going to lie, it scared me… Anyway, I hope someone has some advice.

    Thank you…

  3. Hi Richard,

    Posting this here as your captcha seems to be broken. I was just interested to know if you had seen this recent development in oligonucleotide antisense therapy:

    https://www.youtube.com/watch?v=El_rYSVoaWI

    From what I can tell it’s a very promising development, especially given the recent failure of ISIS-DPMK2.5 to meet the study end points was purely drug delivery, rather than it’s potential effects.

    Also, with regards to your blog post detailing your trial of erythromycin and ketoprophen, do you think it’s possible that the doses were too low, particularly given the doses stated in the literature, to have any noticeable effect on a patient who suffers from the congenital form with 1700 repeats?

    Many thanks,

    Alex

    • Hi Alex,

      Thanks for the post. I will check out the you tube. Yes I think the dosage for the erythromycin are low but Chris had a heartblock cardiac issue so we went with the lower doasage. It seems to help his lung function as that has been good over the last 1.5 years or so… If there are no heart issues a higher dosage might help. Also we are on ketoprofen as well as that is an NSAID that might help. We keep trucking along…

      Richard

  4. My 20 year old daughter has been diagnosed with Myotonic Dystrophy type 1.
    I am looking for any help/information on any potential cures or treatments .
    Please contact me asap.

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