The year was 1982-83. I had started my practice for the couple of years. So in away I was ' new ' doctor i.e. not smart or experienced. I was consulted on one of the patient, I still remember the room no. , It was ICU bed 4. She was 37 years old female who came to hospital with pain in the belly. She was worked up and found to have acute gall bladder attack , i.e acute cholycystitis. The surgeon took her to surgery . The surgery went well. Like any other operation it was done under general anesthesia and so patient was on respirator. Usually this is removed once the surgery is over and sedatives wears off. This time though she was awake she could not be weaned off or taken off the respirator. So she was transferred to ICU. The surgeon felt that it was effect of the anesthesia and once it wears off then she could be off the respirator. Somehow she was still on respirator after 24hrs of the surgery. So then I was consulted.
I was glad to get the consult, ass being new I needed new patients. As I said this was 37 years old female , who had no previous pulmonary history, i.e. no history of asthma, smoking, or even shortness of breath. So I thought that it will be very easy to wean off the respirator.But as I tried to get her off the respirator I was successful only up to certain point , then she would not tolerate reduction in the support from the respirator. I was not sure why I was having problem with the weaning in this young lady with no previous pulmonary problem or any medical history.
I re reviewed the x-ray and noticed that diaphragms were somewhat elevated. It gave me an idea , could it be that lady had paralysed diaphragms or some muscle weakness.. I could not send her to x-ray department to check on the diaphragmatic movements . So I ordered NIF, the test to check on respiratory muscle strength by asking patient to suck in and measuring the pressure generated. She could hardly generate any pressure. So my hunch that she may have some muscular weakness was most likely correct. I called for a Neurology consult to give opinion and may consider some testing , like EMG to rule out or confirm neuropathy or myopathy.
The neurologist came in and saw patient and told me that , It's your problem , not a neurological issue. . I was disappointed. He did not bother to order any test to confirm or rule out my diagnosis. I was willing to accept that I was wrong , but not not just by some one's opinion . It would be acceptable if the tests were done and I was proved wrong. I could not order the test myself as they have to be done by neurologist and the order must come from neurologist.
I was determined to find out or may be I did not know any other explanation for the difficulty in the weaning. I called the surgeon , who had done the gall bladder surgery and requested him to do muscle biopsy . He was quite reluctant as she had not " fully recovered" from first surgery . I was quite firm and requested him to do it 'anyway'. He agreed .
The biopsy was done .It took long time to get final report , but preliminary report was " MYOPATHY" So my diagnosis was correct . The final diagnosis was Mitochondrial Myopathy , I was never able to get her off the respirator. She is still on respirator at home , still comes to me and does not want to go to any other doctor even for non pulmonary problems. The surgeon had called me for many other consults and the neurologist has retired.