Guest guest Posted January 20, 2005 Report Share Posted January 20, 2005 Hi, I new to post to this group. I have a son who is 2.5 yrs. diagnosed with pyruvate dehydrogen. deficiency. He was diagnosed at 7 mos. I knew there was something wrong at 3 mos.. I am an audiologist and my son with diagnosed with a progressive hearing loss at 6 weeks. As an infant, he screamed all day long. He had severe head lag. I knew there was something wrong with him. I asked to see a neurologist at 4 mos. They also thought due to the progressive nature of his hearing loss that there was something genetically wrong. They did a ton of labs. Found that he had severe lactate acidosis. He immediately was put on DCA. Which revealed a significant improvement. No increased acidosis. His is now 2, Isaiah is the happiest boy ever. He has a g-tube, deaf (with a cochlear implant), doesn't sit up, still with poor head control. He is such a wild man. He rolls all over. We are so glad to be blessed with him. I guess my question is for parents with these sick kids. How has your life been affected by this. Do you sometimes feel out of control. Am I the only on that has a strained marriage. HOw do you keep up. Nicky Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 20, 2005 Report Share Posted January 20, 2005 Hi, I new to post to this group. I have a son who is 2.5 yrs. diagnosed with pyruvate dehydrogen. deficiency. He was diagnosed at 7 mos. I knew there was something wrong at 3 mos.. I am an audiologist and my son with diagnosed with a progressive hearing loss at 6 weeks. As an infant, he screamed all day long. He had severe head lag. I knew there was something wrong with him. I asked to see a neurologist at 4 mos. They also thought due to the progressive nature of his hearing loss that there was something genetically wrong. They did a ton of labs. Found that he had severe lactate acidosis. He immediately was put on DCA. Which revealed a significant improvement. No increased acidosis. His is now 2, Isaiah is the happiest boy ever. He has a g-tube, deaf (with a cochlear implant), doesn't sit up, still with poor head control. He is such a wild man. He rolls all over. We are so glad to be blessed with him. I guess my question is for parents with these sick kids. How has your life been affected by this. Do you sometimes feel out of control. Am I the only on that has a strained marriage. HOw do you keep up. Nicky Quote Link to comment Share on other sites More sharing options...
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