Qasharah
New member
- Joined
- Jul 1, 2024
- Messages
- 2
- Reason
- Learn about ALS
- Diagnosis
- 00/0000
- Country
- US
- State
- FL
- City
- Havana
I'm not sure exactly why I am writing this. I have read through posts, to see if there were others in my similar situation, and I did recognize things here and there, both from those confirmed to have ALS and those undiagnosed. I guess I'm doing this because I am in a true diagnostic limbo. I'm being sent to UF Shands Gainesville, but they're not making urgent appointments at this time, so I'm now in search of somewhere to go, where I can be seen sooner than March of 2025.
I'm a 33 (34 tomorrow actually) female. This all seemed to begin about a year and a half ago, and it has been a slow steady and progressive decline. I first noticed that I could not run or jump, and that I had lost the ability to hit certain pitches when I sang, couldn't yell, and I would get out of breath when singing or talking for too long. The mental and physical fatigue and diffuse pain was all I could think about for the first year, until I got the pain managed finally (and blessedly). But now it's very apparent there's an insidious disease process going on inside of me, and it's hard to get any answers.
The most pronounced issues, confirmed by my very wonderful Speech Language Therapist and a modified barium swallow test, are right sided tongue, lip, soft palate, and jaw muscle weakness (with loss of gag and cough reflex), and deep laryngeal penetration of thin liquids, with possible silent aspiration. I also am suffering from difficulties with my right hand: loss of dexterity, cramping, weakness (making this very difficult to type up), and generally diffuse muscle fatigue with left sided upper/lower proximal clinical weakness and right sided upper/lower distal clinical weakness of 4/5.
I have had many tests done so far, including the modified barium swallow study, which will be repeated tomorrow, as well as one upper/lower EMG/NCS which found ulnar nerve issues on right arm/hand and some on left; a few brain MRIs, one throat MRI, a couple cervical MRIs, and one full spine MRI: showing degenerative disc disease, bulging discs, three herniated discs, and hypertrophic facet arthropathy in cervical spine with some foraminal narrowing but no cord impingement, and hypertrophic facet arthropathy in lumbar spine, with a clean thoracic, brain, and throat MRI, and an X-ray showing minor lumbar scoliosis and cervical kyphosis. Also, I had upright spirometry done 6 months ago, but I'm having a hard time locating it to see the numbers, but I remember the FVC was eighty something percent, MIP was sixty something percent, MEP was fifty something percent, and MVV was 52%. All my labs are fairly normal, and I even lowered my overall cholesterol 55 points over the last year.
I have a history of hypertension, tachycardia, ADHD, and PTSD, that is all very well managed, with medication and therapy (CBT and DBT).
I am currently focused on symptom management, through medication and speech and physical therapy. And it's the speech and physical therapists who have been recognizing my issues more than anyone, because due to how well I'm handling everything, doctors are not getting hands on with appointments and actually doing exams on me. My speech therapist was the first person to do the bulbar testing, and she found weakness immediately, but explained that I'm very good with precision strength, so I'm able to correct for my weakness without even realizing it at times. But it's all progressing, so I believe the muscles I'm using to compensate are also starting to falter.
I had a neurologist, but he didn't seem to want to get involved any further than the basic testing, and that's who's sending me to UF Shands. All other doctors have just been helping me manage my symptoms, because no one knows what's happening.
I believe, as does my Speech Therapist, that it is more than likely Myasthenia Gravis, although I tested negative for both antibodies, but I know there is a 5% chance of a seronegative type, and there ARE tests for it that just have not been ordered yet. I'm going to have my GP refer me urgently to a different neurologist, preferably neuromuscular specialist, so I can at least see if I can get started on an empirical trial of Mestinon, so I can hopefully receive both relief and answers sooner rather than later.
I know this is an ALS forum, and I recognize I just typed out a maelstrom of large amounts of information that may or may not add up to this being ALS, but I HAVE absolutely been helped by this forum, through advice I've gleaned from those affected by a diagnosis helping each other, AND from those long past, who have offered such incredibly sage and helpful wisdom over the years, that has not been wasted on me. I have become so much more present through all of this, and I have learned to adapt and adjust at every turn, and to truly enjoy those around me, and my own mind even, in the midst of an impossibly difficult journey I suddenly found myself on.
I guess I'm just writing this to put it all in one place, to offer a vociferous thank you, and to ask if this sounds remotely like it could be a motor neuron disease, with a mostly clean EMG and only minor loss of function over a year and a half of symptoms.
Thank you,
Qasharah
I'm a 33 (34 tomorrow actually) female. This all seemed to begin about a year and a half ago, and it has been a slow steady and progressive decline. I first noticed that I could not run or jump, and that I had lost the ability to hit certain pitches when I sang, couldn't yell, and I would get out of breath when singing or talking for too long. The mental and physical fatigue and diffuse pain was all I could think about for the first year, until I got the pain managed finally (and blessedly). But now it's very apparent there's an insidious disease process going on inside of me, and it's hard to get any answers.
The most pronounced issues, confirmed by my very wonderful Speech Language Therapist and a modified barium swallow test, are right sided tongue, lip, soft palate, and jaw muscle weakness (with loss of gag and cough reflex), and deep laryngeal penetration of thin liquids, with possible silent aspiration. I also am suffering from difficulties with my right hand: loss of dexterity, cramping, weakness (making this very difficult to type up), and generally diffuse muscle fatigue with left sided upper/lower proximal clinical weakness and right sided upper/lower distal clinical weakness of 4/5.
I have had many tests done so far, including the modified barium swallow study, which will be repeated tomorrow, as well as one upper/lower EMG/NCS which found ulnar nerve issues on right arm/hand and some on left; a few brain MRIs, one throat MRI, a couple cervical MRIs, and one full spine MRI: showing degenerative disc disease, bulging discs, three herniated discs, and hypertrophic facet arthropathy in cervical spine with some foraminal narrowing but no cord impingement, and hypertrophic facet arthropathy in lumbar spine, with a clean thoracic, brain, and throat MRI, and an X-ray showing minor lumbar scoliosis and cervical kyphosis. Also, I had upright spirometry done 6 months ago, but I'm having a hard time locating it to see the numbers, but I remember the FVC was eighty something percent, MIP was sixty something percent, MEP was fifty something percent, and MVV was 52%. All my labs are fairly normal, and I even lowered my overall cholesterol 55 points over the last year.
I have a history of hypertension, tachycardia, ADHD, and PTSD, that is all very well managed, with medication and therapy (CBT and DBT).
I am currently focused on symptom management, through medication and speech and physical therapy. And it's the speech and physical therapists who have been recognizing my issues more than anyone, because due to how well I'm handling everything, doctors are not getting hands on with appointments and actually doing exams on me. My speech therapist was the first person to do the bulbar testing, and she found weakness immediately, but explained that I'm very good with precision strength, so I'm able to correct for my weakness without even realizing it at times. But it's all progressing, so I believe the muscles I'm using to compensate are also starting to falter.
I had a neurologist, but he didn't seem to want to get involved any further than the basic testing, and that's who's sending me to UF Shands. All other doctors have just been helping me manage my symptoms, because no one knows what's happening.
I believe, as does my Speech Therapist, that it is more than likely Myasthenia Gravis, although I tested negative for both antibodies, but I know there is a 5% chance of a seronegative type, and there ARE tests for it that just have not been ordered yet. I'm going to have my GP refer me urgently to a different neurologist, preferably neuromuscular specialist, so I can at least see if I can get started on an empirical trial of Mestinon, so I can hopefully receive both relief and answers sooner rather than later.
I know this is an ALS forum, and I recognize I just typed out a maelstrom of large amounts of information that may or may not add up to this being ALS, but I HAVE absolutely been helped by this forum, through advice I've gleaned from those affected by a diagnosis helping each other, AND from those long past, who have offered such incredibly sage and helpful wisdom over the years, that has not been wasted on me. I have become so much more present through all of this, and I have learned to adapt and adjust at every turn, and to truly enjoy those around me, and my own mind even, in the midst of an impossibly difficult journey I suddenly found myself on.
I guess I'm just writing this to put it all in one place, to offer a vociferous thank you, and to ask if this sounds remotely like it could be a motor neuron disease, with a mostly clean EMG and only minor loss of function over a year and a half of symptoms.
Thank you,
Qasharah
