UNENDING LEARNING

      I often say that in life ,one should never stop learning. Certainly learning new skill will help prevent dementia  and may be even improve in some patients. Learning new language or musical instrument or even brushing teeth or shaving or combing with different hand ,will help to develop some new connections and that may help . But sometimes doctors and same hold about other fields, people stop learning and then with  doing same thing over and again , they get burnt out or bored. So one has to do same things most of the time ,but always think out side the box, when things don't add up . 

    That brings me to story for today. I saw this female patient fo abnormal chest x- ray / CT scan chest  and shortness of breath. She was a young  lady who had shortness of breath going on for few months and she saw  PCP .He ordered CT scan of the chest and that showed some abnormality. So she was sent to me . The CT scan showed some density in the middle part of chest , called mediastinum  and the radiologist thought that to be related to  THYMUS. The Thymus is a gland which we have till infancy and then it disappears But sometimes we continue to see the remnant of that and sometimes it can grow  and then some patients may have Myasthenia Gravis  and sometimes it becomes cancerous called thymoma. So she was seen by neurologist and he did all sort of different tests  and they came back as OK and she did not have Myasthenia Gravis . I saw her and  and did breathing test and did new CT scan of chest, There was no difference in the soft tissue that was seen on first CT scan done 3 months ago. The breathing test done showed mild Asthma  and I started her on inhaler for that .She had shortness of breath and so we did walk test and her oxygen saturation dropped and I could not explain that . 

   The neurologist had seen her and done more blood tests and did  not find anything wrong and she continued to have shortness of breath. She was sent to a chest surgeon though the thymic tissue had not changed on another scan. She continued to have shortness of breath. The chest surgeon sent her to ne lung specialist in his own group  and he did same tests that I had done . But she saw a different , new neurologist who also specialized in genetic disorders. He felt she had no major neurological problems ,but did do genetic tastings . I spoke to him and he did not feel she has had any problems. But then I got a call from her new primary care physician .He informed me that she had a disease base on genetic testing - called POMPE'S DISEASE 

   I has heard about it but had b=never seen a patient with that diagnosis nor did PCP or the neurologist who diagnosed it . But at least we know the diagnosis.