Dr. Lewis Rowland was very important in the neuromuscular world and I was fortunate to hear him speak long ago at a neuromuscular conference in Arizona. Dr. Rowland presented several cases of a newly described disorder called Emery-Dreifuss muscular dystrophy. After he spoke, I went up to him and said "I have a little patient exactly like the ones you just described. I have not been able to diagnose him but he fits all the criteria you gave." He kindly offered to look at the muscle biopsy slides for me and review the child's history and physical findings. After I sent him the slides and the case history Dr. Rowland called me and agreed the child had Emery-Dreifuss. The importance of this was that as the boys reach the teenage years, they usually need a pacemaker because of a conduction defect in the heart. Not only do the boys need a pacemaker but because it is a sex-linked recessive disorder their mothers also may need one. As soon as I was sure of the diagnosis, I called Eddie's mother and she was very grateful for the information. Eddie did need a pacemaker as a teenager. After I moved to San Francisco and saw only children with disabilities and neuromuscular disorders, I lost contact with Eddie's mother. Then one day my son went to a doctor's office in San Diego for a physical and the secretary on seeing the information he gave asked if I was his mother. He gave her my telephone number and also called me. She was Eddie's mother. We spoke that day and she told me she had not been feeling well. I spoke with her cardiologist who did not know anything about Emery-Dreifuss and the need for a pacemaker. I faxed him some articles and Eddie's mother had a pacemaker inserted the next morning. The cardiologist called and said I had saved the mother's life. I have had several other patients with the same disorder and have been able to get cardiologists to listen to me about the need for a pacemaker except for one mother. She saw three cardiologists who did not listen and was found dead in bed at age 47. She was a lovely person and even though I had spoken to the doctors they paid no attention to what I said. Thus parents and patients have to speak up and demand the doctors listen.
Image copyright: Michelle Waspe/flickr/CC BY
Article last time updated on 06.04.2017.