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Meeting with Dr Charis Eng at the Cleveland Clinic

In the summer of 2010, we went to see Dr Charis Eng at the Cleveland Clinic. The National Institute of Health gave us her name when Tommy’s grandfather contacted them to see what else we could learn about Bannayan Riley Ruvalcaba Syndrome. Dr. Eng discovered the PTEN gene mutation responsible for Tommy’s syndrome. This was the first time that we were meeting with someone who had seen other patients with the same condition. Dr Eng explained to us that although there is no published information yet she believes Tommy’s lung, tonsil, and skin conditions are related to the mutation. Since a PTEN mutation causes an overgrowth of cells, she believes that Tommy’s sinus and airway passages might have thicker walls and therefore a thinner space for air and mucous to pass. Thus causing clogging and plugs. The passages that bring moisture to the skin are probably suffering the same problem. We raised with Dr Eng that Tommy has frequent bowel movements. She mentioned that she suspects patients with a PTEN mutation may have “lazy nerves” and it is difficult for them to coordinate the movements required for a full bowel movement.

April 30, 2011 · PTENLife · No Comments
Tags: , , , , ,  · Posted in: Congestion, Constipation, Lung Mucous Plugs, Medical, PTEN Life, PTEN Mutation, Respiratory Issues, Skin Rash, tonsillectomy

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