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 reviews and gradually increased the doses of gabapentin and clonazepam, but the relief was limited.
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 focused on the supplementary treatments we could control and tried to keep a positive mindset, but the lack of any update or plan was deeply frustrating.
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 on admission confirmed multiple broken ribs and five spinal fractures, all caused by the severe spasms. One of them was a severe fracture at T5 — exactly where the lump had first appeared in September. This had caused severe kyphosis (a pronounced gibbus deformity) and I had lost six inches in height, from 6'1" to 5'7". Since the October neurology appointment I had also lost five stone in weight and weighed only nine stone on admission. During that admission there were serious issues with medication reconciliation — the doses of gabapentin and clonazepam that had been increased over the previous months were reverted to much lower levels despite clear evidence on the NHS app. In the early hours of 20 December I suffered a complete heart block followed by a PEA arrest during which I had no heart function for 12 minutes. A further cardiac arrest occurred on 22 December during which I had no heart function for 8 minutes. I was transferred to intensive care, placed in an induced coma, and have no recollection of any events from admission until I woke up between Christmas and New Year. Whilst in the coma I suffered delirium, and on Boxing Day my oxygen saturation dropped to 40%. This is in the category of profound/critical hypoxemia. At such low levels, the brain and other vital organs are not receiving adequate oxygen, which can quickly lead to confusion, loss of consciousness, seizures, cardiac arrhythmias, organ failure, or death if not corrected rapidly. I can only imagine the anguish my family went through, particularly my wife, as she prepared for the worst over the Christmas period. The results of the glycine receptor antibody test were confirmed by the laboratory on a phone call while I was in the coma. The cardiac team then administered the appropriate treatment, to which I fortunately responded well and pulled through. Only later did I learn that the positive result had confirmed PERM (a stiff-person-plus syndrome). By the time the diagnosis was acted upon, I had already suffered significant additional damage.
What I Would Say to Someone Now
When you are waiting for a specialist test result and chasing for updates brings only silence, it is easy to feel powerless and simply focus on getting through each day. Yet that waiting period can be when the condition is progressing rapidly in the background. If symptoms suddenly worsen or new complications appear, the previous weeks of uncertainty can make it harder to get urgent care. Looking back, the lack of any communication about the blood test in November and early December meant we were still managing as if the diagnosis remained unclear, right up until the crisis hit. The discovery on admission of multiple rib and spinal fractures — all caused by the severe spasms — along with severe kyphosis and dramatic weight loss showed how much damage had occurred while we were simply trying to survive. The two cardiac arrests, during which I had no heart function for 12 minutes and then 8 minutes respectively, were life-changing events for my family. Being placed in an induced coma and waking with no memory of those days, while knowing loved ones endured the fear over Christmas, adds another layer of trauma. The fact that the positive glycine receptor antibody result was only confirmed and acted upon while I was unconscious highlights how critical the timing became. Persistent chasing and clear documentation of deterioration can sometimes help push things forward, but there are limits when the system does not respond.
