Recent content by blh8287

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    Brother just diagnosed limb onset we both have pathogenic c9orf72 expansion.

    Thank you so much. For years I have seen Movement Disorder doctors and they all were thinking I had spinocerebal Ataxia although they found a mutation on IRF2BPL and they figured that was my issue. After I was forced to retire and lost my insurance, I started going to the VA. Before my...
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    Brother just diagnosed limb onset we both have pathogenic c9orf72 expansion.

    blh8287 Been awhile since I've been on here. My neurologist and researchers believed my problems were from a mutation they found on IRF2BPL. Spacisity in legs and dystonia all upper body. They ended up implanting a Baclofen Pump. A couple months back, my brother got diagnosed limb onset ALS...
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    blh8287 Been awhile since I've been on here. My neurologist and researchers believed my problems...

    blh8287 Been awhile since I've been on here. My neurologist and researchers believed my problems were from a mutation they found on IRF2BPL. Spacisity in legs and dystonia all upper body. They ended up implanting a Baclofen Pump. A couple months back, my brother got diagnosed limb onset ALS...
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    Been awhile since I've been on here. My neurologist and researchers believed my problems were...

    Been awhile since I've been on here. My neurologist and researchers believed my problems were from a mutation they found on IRF2BPL. Spacisity in legs and dystonia all upper body. They ended up implanting a Baclofen Pump. A couple months back, my brother got diagnosed limb onset ALS. We...
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    No diagnosis still, EMG doc only checked one muscle said only upper motor neuron/CNS problem...

    No diagnosis still, EMG doc only checked one muscle said only upper motor neuron/CNS problem. Have developed gastroparesis and swallowing problems. Seeing a gastroneurologist now he is thinking bulbar problems.
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    Haven't learned anything new, the NIH wants me to get a new EMG by an ALS specialist because of...

    Haven't learned anything new, the NIH wants me to get a new EMG by an ALS specialist because of fasciculations they have observed and something on my most recent brain MRI.
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    Yes, left hand muscles and left leg. I'll stay in touch.

    Yes, left hand muscles and left leg. I'll stay in touch.
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    I have been told I either have PLS, ALS or HSP and FTD. My main symptoms are hyperreflexia...

    I have been told I either have PLS, ALS or HSP and FTD. My main symptoms are hyperreflexia, clonus, myoclonus, and cognitive impairment. I have read some studies showing SPG11 is also found with sporadic ALS.
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    The NIH is being very tight lipped about my tests. They won't even bring up the other gene...

    The NIH is being very tight lipped about my tests. They won't even bring up the other gene which is mutated; they just say they don't think HSP. They take forever on their DNA testing. I have been told I probably have FTD...I suppose the cerebral atrophy may verify that. Anyway I just know...
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    All I know is I have the SPG11 Mutation and was considered for HSP11, but for whatever reason...

    All I know is I have the SPG11 Mutation and was considered for HSP11, but for whatever reason they say I have another mutation on a different gene they are checking out. I noticed my symptoms back in 2011. My family and ex-wife noticed problems a couple years before I did. I have a lot of...
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    Have you been diagnosed yet. I have questions about your SPG11 mutation. I have that mutation...

    Have you been diagnosed yet. I have questions about your SPG11 mutation. I have that mutation and am currently being evaluated at the National Institute of Health. They don't think I have HSP, but still testing. I do have cerebral atrophy. Look forward to hearing from you
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    Situation update...been awhile

    I started experiencing cramps and twitching last year. I had a "borderline" EMG last year. I have tertiary esophagus motility, slowed GI transit time. My piMax is 74 and PeMax 62.. A breathing muscle endurance test was 17%. Pulmonologist looked at a chest CT I had done last year and pointed...
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    Vpap

    They have my inspiratory at 17 and expiratory at 14. PiMax is 70 PeMax 62 and breathing muscle endurance rated at 17.
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    EMG Tests today not good

    Had EMG last week. Neurologist only mentioned problem in right leg and repeatedly stated "Stiff-man" syndrome or autoimmune problem...any thoughts
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    Another person with ALS fears

    The Neurologist I am going to works at another hospital and has a lot of experience with patients with motor neuron disorders. Hope she can exclude ALS or any other movement disorder. Just taking everything a day at a time; and deal with problems as they present.
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