| Robert Purkis - Wrong Diagnosis |
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Steve's worst birthday ever!
On Steve's birthday, July 31st 1996 we had an appointment to see the neurologist. Since we returned from holiday Rob's movements were beginning to improve and then he started to get worse. He was floppy and had lots of jerky movements, his eyes drifted upwards and he was eating less since the Polycal was added to his milk. Rob hardly slept, he sweated a lot and cried with pain, he twisted sideways and ground his teeth and had clenched hands. He woke all relaxed in the mornings but soon after breakfast he became tense again. Bad news The neurologist thought that Robert may have a metabolic disease called Leigh's Disease. This is where enzymes are missing in the mitochondrial cells so energy was not being metabolised from the food he was eating. She told us he would probably lose his hearing & eye sight if he got infections and that there was no cure! He would gradually get worse and may well die in 6 months to a year's time. She ordered more tests to be done and gave us presciptions for drugs such as diazepam and Chlorpromazine which were meant to cut down on his jerky movements but they did not help. Muscle Biopsy At the hospital where Rob was to undergo a muscle biopsy I was left distraught after the doctor who examined Rob prior to the operation passed the comment on Rob's twisting limbs, 'they haven't set yet then'. I was in turmoil wondering what he meant and I almost prayed that Rob wouldn't make it through the anaesthetic if he had such a terrible life ahead of him. Normal Muscle Biopsy, Normal Cat scan and Normal Skin Biopsy The neurologist told us that all the results were normal except the lactate level in the spinal fluid and the MRI scan which showed abnormal legions in the basal ganglia. However because Rob had not improved but become worse she thought it was Leigh's syndrome rather that Leigh's Disease but we would still have to accept that it could be missing enzymes which had not yet been discovered. Wrong Diagnosis I was sure that she was wrong and that the problem was related to his poor diet, he had to be forced to eat anything! Finally I realised that the reason Rob twisted around and brought his left leg up was because he was very constipated. We now hold him over the toilet and this helps him get rid of all the waste material which builds up in him and becomes toxic. We took him off polycal and all the drugs (diazepam, haloperidol and chlorpromezine), which were causing him problems with swallowing, and immediately he improved. The Back Specialist Rob's back was twisting due to the pain caused by constipation. We saw an orthopaedic consultant who said he had to have a moulded supportive jacket to prevent him twisting. When it was fitted it came under his armpits and all the way down to his thighs and was designed to be tightly worn where it would have cut into his skin. We refused to use it - imagine being in terrible pain from constipation which was not being addressed and then compounding the problem so he could not move - it was unbelievable. The physio advised that he should wear it whilst he was eating! |
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