07 | Waiting for Answers and the Crisis
NEAR FATAL OUTCOME
After the October neurology appointment we tried to carry on as best we could. The daytime symptoms remained challenging but did not seem to worsen significantly. The night-time spasms, however, continued with the same intensity — bringing severe pain and preventing any proper rest. The GP continued with weekly telephone calls and gradually increased the doses of gabapentin and clonazepam, but the relief was limited.
Life as I knew it had completely changed. I had gone from leading a perfectly normal life to needing full-time care, being wheelchair-bound, and facing huge amounts of daily discomfort and pain. It literally felt like entering battle with an unknown enemy every single day and night. There was a huge amount of uncertainty — not knowing if I would ever walk again or find any respite from the relentless spasms and startle reactions. We fitted handrails everywhere in the house so there was something to hold on to at every point. Every night I relied on my wife or son to help me up the stairs and into bed.
As we moved into early November my wife began chasing the neurology department almost daily for the results of the anti-glycine receptor antibody test. We heard nothing. The silence left us feeling powerless, so we simply resolved to survive each day as best we could.
We had no idea what was about to unfold as Christmas approached. In mid-December my condition deteriorated sharply and suddenly. On 17 December I was admitted to hospital in crisis. X-rays confirmed multiple broken ribs and five spinal fractures, all caused by the severe spasms. One was a severe fracture at T5 — exactly where the lump had first appeared in September. This had caused severe kyphosis and I had lost six inches in height. I had also lost five stone in weight and weighed only nine stone on admission. During that admission the doses of gabapentin and clonazepam were incorrectly reduced. In the early hours of 20 December I suffered a complete heart block followed by a PEA arrest with no heart function for 12 minutes. A further cardiac arrest occurred on 22 December with no heart function for 8 minutes. I was transferred to intensive care and placed in an induced coma. While I was unconscious the laboratory confirmed the positive glycine receptor antibody result, diagnosing PERM (a stiff-person-plus syndrome). The cardiac and neurology teams acted quickly on the diagnosis and started appropriate treatment.
What I Would Say to Someone Now
When you are waiting for a specialist test result and chasing brings only silence, it is easy to feel powerless. That waiting period can be when the condition is progressing rapidly in the background. Looking back, the lack of communication in November and early December meant we were still managing as if the diagnosis was unclear, right up until the crisis hit. The discovery of multiple fractures, severe kyphosis and dramatic weight loss on admission showed how much damage had occurred while we were simply trying to survive. Persistent chasing can help, but sometimes the system only responds when things reach a critical point.
Technical Note
Severe spasms can cause pathological fractures (broken bones caused by muscle force rather than trauma). Multiple rib and vertebral fractures, especially at T5, are well-documented in untreated or poorly controlled stiff-person spectrum disorders. Complete heart block and PEA/asystolic arrests can occur due to autonomic involvement or glycine receptor antibodies affecting brainstem and cardiac conduction pathways.
