Hi Laurie,
Thank you for reaching out again. I truly do appreciate your support.
I have repeatedly asked for a bi-pap, but I continue to get passed around from pulmonologist to sleep doctor to neuro and back again. No one will write one for me. I have two PFT which show very clear decline in MIP and MEP, and the last one shows decrease in function in supine position. The first PFT references neuromuscular defect but the second one states clearly that this is in line with neuromuscular defect and states that the endurance of the muscles of ventilation may be compromised. I will try to upload a photo is I can figure it out. My MIP was 40% and MEP was 20%. I also have a bicarbonate level at 31 from an RR visit.
No one is taking the reports seriously, saying that they are “effort-based” (why have a patient take these tests if you are not going to believe them?). Someone would have to be working REALLY hard to not breathe to produce an MEP of 20%. When I asked the neuro to examine my breathing/ respiratory weakness, he just shrugged and gave me a blank look. I have been tested for heart issues, multiple autoimmune diseases (I also have autoimmune thyroid disease), lung disease. Nothing.
I had what I thought was an appt. at the ALS clinic, but it turned out to be at the normal neuro clinic with a neurologist who was grossly incompetent (a supposed neuromuscular specialist) and dismissed everything I said, refusing to listen to any symptoms of respiratory weakness, issues with swallowing and speaking, complaints of cognitive decline , and the long list of other issues I have. He was combative and arrogant. He cut my female friend off when she tried to ask what it could be but then proceeded to ask the male in the room if he had any questions. This doctor gave me nothing except more despair. I called the ALS clinic twice to request an appt. with the clinic itself (with the longstanding director) but have yet to hear back. I have an appt. with a neuromuscular Pulmonologist but that is not until March.
When I had the EMG they could not even locate my phrenic nerve to measure diaphragmatic weakness and I did not know until later about how to test the bulbar region. The doctors are saying based on that test I do not have ALS. The first neuro told me that if I had ALS it would show up on the limb EMG.
My obvious concern is that this is pulmonary onset. I had shortness of breath in June which progressed and became severe by October. Now I still have respiratory/ chest weakness which makes lifting, pushing, and pulling so challenging but for the moment it is not as severe. For four nights I have also been able to sleep lying down.
My early reference to not prolonging life was in regards to a feeding tube. For the moment I do need my strength and cognitive function (which declines dramatically when there are breathing issues) to get a diagnosis and figure out next steps. At the moment I am only in temporary housing until early Feb. and don’t know where I will end up.
Thank you for any suggestions you might have.
Oh, and the unofficial diagnosis came from the only one who is alert, observant, and meticulous enough to actually listen to me: my Speech Language Pathologist, who has written to both the neuro and my PCP that she is concerned about ALS. No one has responded. She saw what she calls “borderline fasciculations”, which I see all the time (I have researched and know what they look like).
I am hoping to get an outside opinion with a neuro at another hospital but am not sure if he will see me—it’s also out-of-pocket (I am so n Medicaid).
Again, I am so grateful for whatever suggestions you might offer. At this point I am beyond despair.