Guest guest Posted September 2, 2004 Report Share Posted September 2, 2004 , Thanks for the response. Isn't this stuff frustrating?? What is PDH? I am not so good on the abbreviations. How is Hannah doing? How long has she been on keto? What ratio? Sounds like she has the same problem as Langan in some ways and an opposite problem in others. I didn't know you could have acidosis without ketosis, but I guess it makes sense since you can have other acids (amino, etc) in the body. Learn something new every day! Langan has not had a muscle or skin biopsy. We talked about it with the neuro but the high incidence of false negatives really steered us away from it. Plus all of the other testing did not indicate mito- at least not any known mito disorder but I know they are just beginning to understand how many ways things can go wrong with the mitochondria. We didn't have any problems prior to the seizures, but they started at 5 weeks of age. Langan is delayed and has cortical visual problems, although her vision has come along remarkably since lowering the keto ratio. Other than during this period of acidosis, Langan has always moved forward developmentally, just at her own little pace. With the acidosis, she stood still and even regressed some as far as gross motor/strength issues are concerned. I have a call in to the neuro but I am guessing that she will say we need to get completely off keto and see what Langan's body does then. She is amazing and is very committed to finding out the mystery of Langan. I just want to know NOW. You would think 9 months of keto and 2 yrs of Langan's mystery disorder would have taught me patience, but you would be wrong.... = ) Thanks again! > , > The acidosis peaked my attention awhile ago. Hannah has always been unable to metabolize carbs. Her lactic acid levels sky rocket with carbs, but we are now having difficulty getting little Hannah into ketosis. So, you see, acidosis without ketosis. At first they thought it was PDH, now they think it is mitochondrial. Then of course there is a question with the seizure disorder... > > Have you had the skin biopsy and muscle biopsy performed? Did they yield any results? Has there been anything prior to the seizure disorder? > > I'm racking my brain, I know it is so hard. You want answers and no one ever has any. Like you, I am an information junkie when it comes to what Hannah " may have.... " Our babies deal with some sad situations. > > You and yours are in my prayers, > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 3, 2004 Report Share Posted September 3, 2004 Hi , I'm sorry it took me so long to respond. I hope Langan is doing better. PDH is pyruvate dehydrogenaise deficiency. I am sure Langan does not have this as these children tend to regress significantly as they age. With PDH children may develop lactic acidosis with the additional buildup of pyruvate and alanine. It's a complicated disease and extremely rare. In simple terms, kids can't metabolize carbohydrates and the carbs basically become poison in their bodies as lactic acid buildup. Some kids are thiamine responsive and extremely high levels of thiamine help to reduce the lactic acid levels. Hannah fortunately is thiamine responsive...IF this is what she has. Her skin biopsy came back negative, we are waiting for muscle biopsy results. Therapeutically, she is responsive. PDH is metabolic. Our geneticist also believes there is something mito going on, but again, we wait. She gets her multivitamins like all our keto kids get as well as 700mg thiamine (B1). We go to the hospital weekly for acid levels to be checked. Hannah was healthy at birth, good pregnancy, etc. Scored positive on the AGPAR. We kept saying something was wrong. She was lethargic, and breathing really fast. The nurses and doctors laughed and said " new parents. " When Hannah was 12 hours old, her body temperature dropped and she had low blood sugar. She also had dangerous lactic acid levels. We were told they wanted to transfer her to another hospital, they believed she had a metabolic disease perhaps curable by diet or meds, or she may die. Yes...that is exactly what they said to us after calling us overly concerned new parents! She was transferred to Emory in Atlanta and I checked myself out of the hospital. She was in the NICU for over a month and has been hospitalized 6 additional times since then. Due to her inability to metabolize carbs, Hannah has been on a " modified keto diet " (2:1 ratio)since birth. Seizures began (first clonic, later mc, tc, and tonic) at about 2 weeks. Initially, she was put on Phenobarbital with keppra added when she was about 2 months. At that time, she had a VEEG and was diagnosed with infantile seizures. We pushed for a more classic keto diet and finally started about 1 1/2 months (Hannah was about 6 months old) ago with a 4:1 ratio. We used the ketocal briefly, but changed to RCF because the carbs were to high with the ketocal. She is now on a 4.08:1 ratio with 550cal, 11.89g protein; 1.76 carbs; and 55.39 fat. She is now almost 8 months old and has yet to spill large ketones. She gets up to moderate in the afternoons, but even that seems to be helping a little. Hannah also continues to develop at her own little pace. I am concerned about her vision as well. She has had one optomology appointment at 4 months that looked good and will go back in October. She tracks a little, but not consistently. She is currently working on supporting her little head, etc. I don't know if this is the best Hannah will be, if she will continue to be " a little behind " or if she will " catch up " She is the youngest on the diet and if it is PDH, the youngest to be diagnosed. The doctors have no road map to follow and we hear a lot of " we just don't know, hang in there, be patient. " Hannah is our first child. I quit my job and stay home with her. Needless to say, I spend all my waking hours and most of my sleeping hours, praying, advocating, and researching. I wonder if with Langan, what the correlation is between decreased ratio/ increased carbs and acidosis. Please let me know. Maybe she needs more protein, less carbs? Maybe her fats need to be changed as they follow different digestive chains. Good luck and know that I am thinking of you and your family as you try to solve yet another mystery. Re: /Metabolic.../ , Thanks for the response. Isn't this stuff frustrating?? What is PDH? I am not so good on the abbreviations. How is Hannah doing? How long has she been on keto? What ratio? Sounds like she has the same problem as Langan in some ways and an opposite problem in others. I didn't know you could have acidosis without ketosis, but I guess it makes sense since you can have other acids (amino, etc) in the body. Learn something new every day! Langan has not had a muscle or skin biopsy. We talked about it with the neuro but the high incidence of false negatives really steered us away from it. Plus all of the other testing did not indicate mito- at least not any known mito disorder but I know they are just beginning to understand how many ways things can go wrong with the mitochondria. We didn't have any problems prior to the seizures, but they started at 5 weeks of age. Langan is delayed and has cortical visual problems, although her vision has come along remarkably since lowering the keto ratio. Other than during this period of acidosis, Langan has always moved forward developmentally, just at her own little pace. With the acidosis, she stood still and even regressed some as far as gross motor/strength issues are concerned. I have a call in to the neuro but I am guessing that she will say we need to get completely off keto and see what Langan's body does then. She is amazing and is very committed to finding out the mystery of Langan. I just want to know NOW. You would think 9 months of keto and 2 yrs of Langan's mystery disorder would have taught me patience, but you would be wrong.... = ) Thanks again! > , > The acidosis peaked my attention awhile ago. Hannah has always been unable to metabolize carbs. Her lactic acid levels sky rocket with carbs, but we are now having difficulty getting little Hannah into ketosis. So, you see, acidosis without ketosis. At first they thought it was PDH, now they think it is mitochondrial. Then of course there is a question with the seizure disorder... > > Have you had the skin biopsy and muscle biopsy performed? Did they yield any results? Has there been anything prior to the seizure disorder? > > I'm racking my brain, I know it is so hard. You want answers and no one ever has any. Like you, I am an information junkie when it comes to what Hannah " may have.... " Our babies deal with some sad situations. > > You and yours are in my prayers, > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 3, 2004 Report Share Posted September 3, 2004 Hi , I'm sorry it took me so long to respond. I hope Langan is doing better. PDH is pyruvate dehydrogenaise deficiency. I am sure Langan does not have this as these children tend to regress significantly as they age. With PDH children may develop lactic acidosis with the additional buildup of pyruvate and alanine. It's a complicated disease and extremely rare. In simple terms, kids can't metabolize carbohydrates and the carbs basically become poison in their bodies as lactic acid buildup. Some kids are thiamine responsive and extremely high levels of thiamine help to reduce the lactic acid levels. Hannah fortunately is thiamine responsive...IF this is what she has. Her skin biopsy came back negative, we are waiting for muscle biopsy results. Therapeutically, she is responsive. PDH is metabolic. Our geneticist also believes there is something mito going on, but again, we wait. She gets her multivitamins like all our keto kids get as well as 700mg thiamine (B1). We go to the hospital weekly for acid levels to be checked. Hannah was healthy at birth, good pregnancy, etc. Scored positive on the AGPAR. We kept saying something was wrong. She was lethargic, and breathing really fast. The nurses and doctors laughed and said " new parents. " When Hannah was 12 hours old, her body temperature dropped and she had low blood sugar. She also had dangerous lactic acid levels. We were told they wanted to transfer her to another hospital, they believed she had a metabolic disease perhaps curable by diet or meds, or she may die. Yes...that is exactly what they said to us after calling us overly concerned new parents! She was transferred to Emory in Atlanta and I checked myself out of the hospital. She was in the NICU for over a month and has been hospitalized 6 additional times since then. Due to her inability to metabolize carbs, Hannah has been on a " modified keto diet " (2:1 ratio)since birth. Seizures began (first clonic, later mc, tc, and tonic) at about 2 weeks. Initially, she was put on Phenobarbital with keppra added when she was about 2 months. At that time, she had a VEEG and was diagnosed with infantile seizures. We pushed for a more classic keto diet and finally started about 1 1/2 months (Hannah was about 6 months old) ago with a 4:1 ratio. We used the ketocal briefly, but changed to RCF because the carbs were to high with the ketocal. She is now on a 4.08:1 ratio with 550cal, 11.89g protein; 1.76 carbs; and 55.39 fat. She is now almost 8 months old and has yet to spill large ketones. She gets up to moderate in the afternoons, but even that seems to be helping a little. Hannah also continues to develop at her own little pace. I am concerned about her vision as well. She has had one optomology appointment at 4 months that looked good and will go back in October. She tracks a little, but not consistently. She is currently working on supporting her little head, etc. I don't know if this is the best Hannah will be, if she will continue to be " a little behind " or if she will " catch up " She is the youngest on the diet and if it is PDH, the youngest to be diagnosed. The doctors have no road map to follow and we hear a lot of " we just don't know, hang in there, be patient. " Hannah is our first child. I quit my job and stay home with her. Needless to say, I spend all my waking hours and most of my sleeping hours, praying, advocating, and researching. I wonder if with Langan, what the correlation is between decreased ratio/ increased carbs and acidosis. Please let me know. Maybe she needs more protein, less carbs? Maybe her fats need to be changed as they follow different digestive chains. Good luck and know that I am thinking of you and your family as you try to solve yet another mystery. Re: /Metabolic.../ , Thanks for the response. Isn't this stuff frustrating?? What is PDH? I am not so good on the abbreviations. How is Hannah doing? How long has she been on keto? What ratio? Sounds like she has the same problem as Langan in some ways and an opposite problem in others. I didn't know you could have acidosis without ketosis, but I guess it makes sense since you can have other acids (amino, etc) in the body. Learn something new every day! Langan has not had a muscle or skin biopsy. We talked about it with the neuro but the high incidence of false negatives really steered us away from it. Plus all of the other testing did not indicate mito- at least not any known mito disorder but I know they are just beginning to understand how many ways things can go wrong with the mitochondria. We didn't have any problems prior to the seizures, but they started at 5 weeks of age. Langan is delayed and has cortical visual problems, although her vision has come along remarkably since lowering the keto ratio. Other than during this period of acidosis, Langan has always moved forward developmentally, just at her own little pace. With the acidosis, she stood still and even regressed some as far as gross motor/strength issues are concerned. I have a call in to the neuro but I am guessing that she will say we need to get completely off keto and see what Langan's body does then. She is amazing and is very committed to finding out the mystery of Langan. I just want to know NOW. You would think 9 months of keto and 2 yrs of Langan's mystery disorder would have taught me patience, but you would be wrong.... = ) Thanks again! > , > The acidosis peaked my attention awhile ago. Hannah has always been unable to metabolize carbs. Her lactic acid levels sky rocket with carbs, but we are now having difficulty getting little Hannah into ketosis. So, you see, acidosis without ketosis. At first they thought it was PDH, now they think it is mitochondrial. Then of course there is a question with the seizure disorder... > > Have you had the skin biopsy and muscle biopsy performed? Did they yield any results? Has there been anything prior to the seizure disorder? > > I'm racking my brain, I know it is so hard. You want answers and no one ever has any. Like you, I am an information junkie when it comes to what Hannah " may have.... " Our babies deal with some sad situations. > > You and yours are in my prayers, > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 3, 2004 Report Share Posted September 3, 2004 Hi , I'm sorry it took me so long to respond. I hope Langan is doing better. PDH is pyruvate dehydrogenaise deficiency. I am sure Langan does not have this as these children tend to regress significantly as they age. With PDH children may develop lactic acidosis with the additional buildup of pyruvate and alanine. It's a complicated disease and extremely rare. In simple terms, kids can't metabolize carbohydrates and the carbs basically become poison in their bodies as lactic acid buildup. Some kids are thiamine responsive and extremely high levels of thiamine help to reduce the lactic acid levels. Hannah fortunately is thiamine responsive...IF this is what she has. Her skin biopsy came back negative, we are waiting for muscle biopsy results. Therapeutically, she is responsive. PDH is metabolic. Our geneticist also believes there is something mito going on, but again, we wait. She gets her multivitamins like all our keto kids get as well as 700mg thiamine (B1). We go to the hospital weekly for acid levels to be checked. Hannah was healthy at birth, good pregnancy, etc. Scored positive on the AGPAR. We kept saying something was wrong. She was lethargic, and breathing really fast. The nurses and doctors laughed and said " new parents. " When Hannah was 12 hours old, her body temperature dropped and she had low blood sugar. She also had dangerous lactic acid levels. We were told they wanted to transfer her to another hospital, they believed she had a metabolic disease perhaps curable by diet or meds, or she may die. Yes...that is exactly what they said to us after calling us overly concerned new parents! She was transferred to Emory in Atlanta and I checked myself out of the hospital. She was in the NICU for over a month and has been hospitalized 6 additional times since then. Due to her inability to metabolize carbs, Hannah has been on a " modified keto diet " (2:1 ratio)since birth. Seizures began (first clonic, later mc, tc, and tonic) at about 2 weeks. Initially, she was put on Phenobarbital with keppra added when she was about 2 months. At that time, she had a VEEG and was diagnosed with infantile seizures. We pushed for a more classic keto diet and finally started about 1 1/2 months (Hannah was about 6 months old) ago with a 4:1 ratio. We used the ketocal briefly, but changed to RCF because the carbs were to high with the ketocal. She is now on a 4.08:1 ratio with 550cal, 11.89g protein; 1.76 carbs; and 55.39 fat. She is now almost 8 months old and has yet to spill large ketones. She gets up to moderate in the afternoons, but even that seems to be helping a little. Hannah also continues to develop at her own little pace. I am concerned about her vision as well. She has had one optomology appointment at 4 months that looked good and will go back in October. She tracks a little, but not consistently. She is currently working on supporting her little head, etc. I don't know if this is the best Hannah will be, if she will continue to be " a little behind " or if she will " catch up " She is the youngest on the diet and if it is PDH, the youngest to be diagnosed. The doctors have no road map to follow and we hear a lot of " we just don't know, hang in there, be patient. " Hannah is our first child. I quit my job and stay home with her. Needless to say, I spend all my waking hours and most of my sleeping hours, praying, advocating, and researching. I wonder if with Langan, what the correlation is between decreased ratio/ increased carbs and acidosis. Please let me know. Maybe she needs more protein, less carbs? Maybe her fats need to be changed as they follow different digestive chains. Good luck and know that I am thinking of you and your family as you try to solve yet another mystery. Re: /Metabolic.../ , Thanks for the response. Isn't this stuff frustrating?? What is PDH? I am not so good on the abbreviations. How is Hannah doing? How long has she been on keto? What ratio? Sounds like she has the same problem as Langan in some ways and an opposite problem in others. I didn't know you could have acidosis without ketosis, but I guess it makes sense since you can have other acids (amino, etc) in the body. Learn something new every day! Langan has not had a muscle or skin biopsy. We talked about it with the neuro but the high incidence of false negatives really steered us away from it. Plus all of the other testing did not indicate mito- at least not any known mito disorder but I know they are just beginning to understand how many ways things can go wrong with the mitochondria. We didn't have any problems prior to the seizures, but they started at 5 weeks of age. Langan is delayed and has cortical visual problems, although her vision has come along remarkably since lowering the keto ratio. Other than during this period of acidosis, Langan has always moved forward developmentally, just at her own little pace. With the acidosis, she stood still and even regressed some as far as gross motor/strength issues are concerned. I have a call in to the neuro but I am guessing that she will say we need to get completely off keto and see what Langan's body does then. She is amazing and is very committed to finding out the mystery of Langan. I just want to know NOW. You would think 9 months of keto and 2 yrs of Langan's mystery disorder would have taught me patience, but you would be wrong.... = ) Thanks again! > , > The acidosis peaked my attention awhile ago. Hannah has always been unable to metabolize carbs. Her lactic acid levels sky rocket with carbs, but we are now having difficulty getting little Hannah into ketosis. So, you see, acidosis without ketosis. At first they thought it was PDH, now they think it is mitochondrial. Then of course there is a question with the seizure disorder... > > Have you had the skin biopsy and muscle biopsy performed? Did they yield any results? Has there been anything prior to the seizure disorder? > > I'm racking my brain, I know it is so hard. You want answers and no one ever has any. Like you, I am an information junkie when it comes to what Hannah " may have.... " Our babies deal with some sad situations. > > You and yours are in my prayers, > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 3, 2004 Report Share Posted September 3, 2004 , Wow. You and sweet little Hannah have been through it all in such a short time! It sure sounds like she is in great hands, though. She is a lucky little girl to have such a dedicated, involved mom!! Langan was in such a great mood last night- full of energy and giggling like crazy when my husband was throwing her in the air (he loves to do that and she can't get enough!). I was sure it meant her ketones had finally dropped. Sooo I checked her BHBs 3 hours after her last meal- 4.9!! It is just crazy! I gave the info to our neuro's office and she is so great. I know she'll be calling soon with ideas on where to go from here. My guess is that she'll say we need to get completely off keto and see what Langan's body does first, but at least she has the info as to what is going on. Langan's acidity does seem to get better (lower) with the lower ratio and with the wean, although not as low as we would like so far. It is the ketones that are going up instead of down. Strange little mystery angel of mine.... Please give Hannah a big hug for me. She sounds like a real fighter. Wonder where she gets that from.... = ) PS Langan is our first child as well. Your experiences with the allegations of " new mom nerves " hit home with me. But I have definitely learned to follow my gut and keep pushing. And I can tell that you have, too! Hang in there! > > , > > The acidosis peaked my attention awhile ago. Hannah has always been > unable to metabolize carbs. Her lactic acid levels sky rocket with > carbs, but we are now having difficulty getting little Hannah into > ketosis. So, you see, acidosis without ketosis. At first they thought > it was PDH, now they think it is mitochondrial. Then of course there > is a question with the seizure disorder... > > > > Have you had the skin biopsy and muscle biopsy performed? Did they > yield any results? Has there been anything prior to the seizure > disorder? > > > > I'm racking my brain, I know it is so hard. You want answers and no > one ever has any. Like you, I am an information junkie when it comes > to what Hannah " may have.... " Our babies deal with some sad > situations. > > > > You and yours are in my prayers, > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 3, 2004 Report Share Posted September 3, 2004 , Wow. You and sweet little Hannah have been through it all in such a short time! It sure sounds like she is in great hands, though. She is a lucky little girl to have such a dedicated, involved mom!! Langan was in such a great mood last night- full of energy and giggling like crazy when my husband was throwing her in the air (he loves to do that and she can't get enough!). I was sure it meant her ketones had finally dropped. Sooo I checked her BHBs 3 hours after her last meal- 4.9!! It is just crazy! I gave the info to our neuro's office and she is so great. I know she'll be calling soon with ideas on where to go from here. My guess is that she'll say we need to get completely off keto and see what Langan's body does first, but at least she has the info as to what is going on. Langan's acidity does seem to get better (lower) with the lower ratio and with the wean, although not as low as we would like so far. It is the ketones that are going up instead of down. Strange little mystery angel of mine.... Please give Hannah a big hug for me. She sounds like a real fighter. Wonder where she gets that from.... = ) PS Langan is our first child as well. Your experiences with the allegations of " new mom nerves " hit home with me. But I have definitely learned to follow my gut and keep pushing. And I can tell that you have, too! Hang in there! > > , > > The acidosis peaked my attention awhile ago. Hannah has always been > unable to metabolize carbs. Her lactic acid levels sky rocket with > carbs, but we are now having difficulty getting little Hannah into > ketosis. So, you see, acidosis without ketosis. At first they thought > it was PDH, now they think it is mitochondrial. Then of course there > is a question with the seizure disorder... > > > > Have you had the skin biopsy and muscle biopsy performed? Did they > yield any results? Has there been anything prior to the seizure > disorder? > > > > I'm racking my brain, I know it is so hard. You want answers and no > one ever has any. Like you, I am an information junkie when it comes > to what Hannah " may have.... " Our babies deal with some sad > situations. > > > > You and yours are in my prayers, > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 3, 2004 Report Share Posted September 3, 2004 , Wow. You and sweet little Hannah have been through it all in such a short time! It sure sounds like she is in great hands, though. She is a lucky little girl to have such a dedicated, involved mom!! Langan was in such a great mood last night- full of energy and giggling like crazy when my husband was throwing her in the air (he loves to do that and she can't get enough!). I was sure it meant her ketones had finally dropped. Sooo I checked her BHBs 3 hours after her last meal- 4.9!! It is just crazy! I gave the info to our neuro's office and she is so great. I know she'll be calling soon with ideas on where to go from here. My guess is that she'll say we need to get completely off keto and see what Langan's body does first, but at least she has the info as to what is going on. Langan's acidity does seem to get better (lower) with the lower ratio and with the wean, although not as low as we would like so far. It is the ketones that are going up instead of down. Strange little mystery angel of mine.... Please give Hannah a big hug for me. She sounds like a real fighter. Wonder where she gets that from.... = ) PS Langan is our first child as well. Your experiences with the allegations of " new mom nerves " hit home with me. But I have definitely learned to follow my gut and keep pushing. And I can tell that you have, too! Hang in there! > > , > > The acidosis peaked my attention awhile ago. Hannah has always been > unable to metabolize carbs. Her lactic acid levels sky rocket with > carbs, but we are now having difficulty getting little Hannah into > ketosis. So, you see, acidosis without ketosis. At first they thought > it was PDH, now they think it is mitochondrial. Then of course there > is a question with the seizure disorder... > > > > Have you had the skin biopsy and muscle biopsy performed? Did they > yield any results? Has there been anything prior to the seizure > disorder? > > > > I'm racking my brain, I know it is so hard. You want answers and no > one ever has any. Like you, I am an information junkie when it comes > to what Hannah " may have.... " Our babies deal with some sad > situations. > > > > You and yours are in my prayers, > > > > > > Quote Link to comment Share on other sites More sharing options...
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