Guest guest Posted November 25, 2003 Report Share Posted November 25, 2003 Hello, After 5 years of doc's and people saying " there is something going on w/your son but we can't put our finger on it " we have a diagnosis. I just received the letter from our genetics doctor, he has BPES, they are still unsure of the type, and both my husband and I are unaffected w/the gene. When he was a baby he NEVER slept through the night, was a poor feeder and had severe reflux. He was taken off all milk proteins which cleared him from all reflux medication. He was failure to thrive and both me and our pediatrician at the time both fought the stomach tube and won! Since his ptosis was the only thing detected, although he had a murmur at birth, my pediatrician had enough insight to say that he may have a syndrome, he just didn't know what kind, so we were just happy he was finally over his severe reflux. He did very well for about 2 years. At 3 years old they heard the murmur again (wicked hard to detect even by his cardiologist) and had an irregular ekg and our new pediatrician (We moved to Mass) sent us straight to childrens hospital, he was diagnosed w/a VSD. Since then he has had a tube removed from his ears, found to have conductive hearing loss, tubes put back in, and several procedures to determine why he has a chronic cough. He has polyps on his vocal chords, which he will need voice therapy for. And is once again having problems w/his tubes, his ENT and I see each other regularly!! His VSD seems to be closing on it's own...thankfully! BUT..he has been on medication to stop the racing of his heart, heartrate at 160 at rest and he would get cold and clammy. The meds are working for this, he now has a second cardiologist who specializes in electrophysiology that sees him every 6 months. He was just prescribed glasses. His left eye is MUCH worse than his right, his eyelids are not severely closed but I always get comments from people everywhere I go at how tired he looks. I am happy to find a support group! I feel truly blessed that he has only had a few surgeries and surgical procedures in his lifetime. And am very thankful that he is so active funny and doing so well in school. I would love to correspond w/someone in the same situation with me. ' Thanks for listening to me babble on and on!! Kristyn Quote Link to comment Share on other sites More sharing options...
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