06 | The Neurology Appointment and the First Clear Clue
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By October 2025 we had been waiting for the outpatient neurology appointment for several months. It felt like a long-awaited opportunity to finally get some answers. When the neurologist saw me arrive in a wheelchair she looked visibly shocked. We were surprised by this reaction, as we had assumed the GP had been keeping the neurology team updated.
Early in the consultation it became clear that none of the GP notes or records had been reviewed. The letter from the Bupa FND specialist had also not been seen. The anti-GAD blood test had returned negative, and the EMG was clear. The neurologist therefore requested an anti-glycine receptor antibody blood test to investigate the possibility of PERM.
The neurologist examined the lump on my back and agreed with the GP that it was likely postural. We left the appointment with no immediate plan for imaging and with the new blood test requested. My wife was in tears as we made our way home. The consultation had left us feeling that, despite months of rapid decline, very little of our day-to-day reality had been taken into account.
We felt particularly let down that no action had been taken on the Bupa specialist’s letter sent in early September. It felt as though five to six weeks had been lost. At that point we felt no closer to moving forwards. The specialist blood test was expected to take at least a month, so we were returning home to face the same daily challenges as before. We had had virtually no respite or proper sleep since July.
After the disappointment we quickly got back to our positive approach and focused on the things we could control. We didn’t really think about what it would mean if the glycine receptor antibody test came back negative. We had looked into SPS and it didn’t make for comforting reading. At times we even wondered whether FND could actually be the correct diagnosis, even though none of the symptoms aligned with what I was experiencing.
What I Would Say to Someone Now
If you arrive at a specialist appointment in a much worse state than when you were last seen, pay attention if the team seems unaware of how you have deteriorated. When important letters have not been reviewed, it can be worth gently pointing this out. A single new test being sent off can feel like progress, but if the broader picture of your symptoms is not acknowledged, it is reasonable to feel discouraged. Looking back, staying focused on what we could control while quietly questioning everything helped us keep going through those difficult weeks.
Technical Note
Anti-GAD antibodies are associated with classic stiff-person syndrome, while anti-glycine receptor antibodies are more specific to the PERM variant. A negative anti-GAD result does not rule out stiff-person spectrum disorders. The delay in acting on the Bupa specialist letter and the lack of spinal imaging despite a visible lump are common gaps when symptoms straddle neurological and musculoskeletal presentations.
