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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, given her experience meeting with BRRS patients, she believes Tommy’s lung, tonsil, skin and gastrointestinal conditions are related to the PTEN mutation.See *********************************** We met Muriel who told us about her son: My son is 13 years old. I think that, because of hypotonia, his cough wasn’t strong enough. He had very big tonsils and adenoïds removed at 6 years old, which improved his sleeping. In the morning, I sometimes found him sleeping with his head in the vomit full of pasta. He reads books and goes to the library, but sometimes he forgets and read the same book 3 times. He seems to have problems with relationships; he prefers to be with adults and little children.He’s got an arteriovenous malformation which hurts to the touch since he was 9 (see picture above). He had a bump on rib that I could see, but not anymore.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 BRRS. Eng discovered the PTEN gene mutation responsible for Tommy’s syndrome.It was so helpful to finally understand what we were dealing with.

But at age one, his medical and developmental issues began.UPDATE: Tommy is a very tall, very enthusiastic, happy almost teenager.He turned 12 this year on March 24, and has already gone through puberty.He takes a school bus to school every morning and really enjoys it. At 6 months he developed a hemangioma on the right side of his chest. This occurred 3 times in a row at 8 week intervals. The winter is the worst for him a lot breathing treatments and in and out the doctor offices. I sure I have forgot something but here a start.” Zack also has five lipomas on his back, chest and stomach. He has a mass in his genital area that is being checked but his doctors so far have been unable to diagnose.Tommy has grown from a perfect little boy into a perfect young man. Dabinett (Age 13) Below are some of the people we have met from around the world and what we have learned. To chat with other BRRS parents/patients, please go to EZRA Meet Ezra, he looks and acts just like my son Tommy. His mother, Suzanne, made this incredible and informative video about her son’s BRRS symptoms. v=CO8Ef Me T-Fc&feature=player_detailpage ************************************ Meet Bryce. He ended up having his lower colon resected to stop the prolapses. We receive confirmation of that diagnosis when Bryce had his blood tested genetically at 8 years old. He could read before he started kindergarten and he inherited his Star Wars Mania from his father. After his health crashed in the the 6th grade, I had to pay a lot of attention to what was going on at his school , cause he had the staff wrapped around his finger and wasn’t afraid to use it to his benefit I was truly blessed cause Bryce’s older brothers treated him like their rotten younger brother, and that had more to do with Bryces attitude being “normal” than anything I or my husband ever could have done. He needs to take a stool softener every day or he becomes constipated. The lining of his nose is “thick”, Irene was told by doctors.

But at age one, his medical and developmental issues began.UPDATE: Tommy is a very tall, very enthusiastic, happy almost teenager.He turned 12 this year on March 24, and has already gone through puberty.He takes a school bus to school every morning and really enjoys it. At 6 months he developed a hemangioma on the right side of his chest. This occurred 3 times in a row at 8 week intervals. The winter is the worst for him a lot breathing treatments and in and out the doctor offices. I sure I have forgot something but here a start.” Zack also has five lipomas on his back, chest and stomach. He has a mass in his genital area that is being checked but his doctors so far have been unable to diagnose.Tommy has grown from a perfect little boy into a perfect young man. Dabinett (Age 13) Below are some of the people we have met from around the world and what we have learned. To chat with other BRRS parents/patients, please go to EZRA Meet Ezra, he looks and acts just like my son Tommy. His mother, Suzanne, made this incredible and informative video about her son’s BRRS symptoms. v=CO8Ef Me T-Fc&feature=player_detailpage ************************************ Meet Bryce. He ended up having his lower colon resected to stop the prolapses. We receive confirmation of that diagnosis when Bryce had his blood tested genetically at 8 years old. He could read before he started kindergarten and he inherited his Star Wars Mania from his father. After his health crashed in the the 6th grade, I had to pay a lot of attention to what was going on at his school , cause he had the staff wrapped around his finger and wasn’t afraid to use it to his benefit I was truly blessed cause Bryce’s older brothers treated him like their rotten younger brother, and that had more to do with Bryces attitude being “normal” than anything I or my husband ever could have done. He needs to take a stool softener every day or he becomes constipated. The lining of his nose is “thick”, Irene was told by doctors.If we had used hormone drugs, and waited he could possibly grow to be even taller than he currently is. He had a mottling that started at his abdomen and went half way down his right leg at birth.