Discussions By Condition: I cannot get a diagnosis.

I’m looking for a diagnose

Posted In: I cannot get a diagnosis. 15 Replies
  • Posted By: Anonymous
  • March 4, 2011
  • 07:24 PM

I’m looking for a doctor who’d be interested in complex cases. One who wants and is able to solve puzzles set by symptoms that would seem unconnected at first sight. Usual doctors but shrug their shoulders.
The child is six y.o., the only defined diagnosis is organic aciduria caused by broken folate cycle, folates being influenced by thiols.
The type of aciduria has not been defined. No treatment has been prescribed.
The child’s development is one step forward, two steps backward, the reasons for rollbacks are not clear.
For all the 6 years the child’s been suffering from vomiting with lots of mucus. When the protein in his foods is 0.5 g per kg or less, the child looks quite different, he starts progressing, but in this case we need a special hydrolyzate, and no one can tell us which one, no one knows which.
Thank you for your attention.

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15 Replies:

  • hello .. can u pls list all symptoms pls ? r there any urinary symptoms / seizures / lens discolouration / any family history ?m a medico , pls answer these question , il try my best to help u :)
    arjun4mb 80 Replies Flag this Response
  • there r 4 main types of organic acidurias : 1.methylmalanoic aciduria2.maple syrup disease 3.propionic aciduria4.isovaleric aciduria i ruled out isovaleric cos usuall patients die due to encephalopathy in early infancy and in propionic aciduria SWEAT FEET is the charecteristic symptom whic ur kid doesn`t have...now we gotta choose between the remaining two .. pls tell me d other symtpoms
    arjun4mb 80 Replies Flag this Response
  • The child is 6,5 years old. His weight is 11 kg +/- 0.5 kg.He cannot sit up, cannot roll over, cannot hold his head.For a long time he has had no motivation for anything.He does not have any interest in food.He can understand what is being said to him. He cannot talk.There was progress in his speech development after a course of royal jelly and after the first course of methyl and vitamin B12, but later there was a rollback, things got back to the previous state. In 2009 in Kharkov Genetics Institute (Ukraine) under the guidance of Prof. Gretchanina there was a number of tests taken.Molecular blood test: heterozygous compound MTHFR 667C/T and MTRR 66 A/G.Test of acylcarnitine profile according to the method of tandem mass-spectrometry: no change (anomaly) is found.Blood homocysteine equals 14.7.Urine test, organic acids level in urine measured according to the method of gas chromatography: increased content of mercaptoDiacetyl 9-thioglycolic acid, that testifies to the participance of thiol substances in the disruption of the folate metabolism.The diagnosis was defined as organic aciduria against the background of the disturbance of the folate cycle with the influence of thiols on folates.The kind of aciduria was not finally diagnosed. In Kharkov they recommended to limit the amount of protein taken with foods to the amount of 2 g per kg daily. There were no positive changes, and as recommended by the genetic in Dnepropetrovsk the amount of protein was limited to 1.5 g per kg daily.In a week the phlegm viscosity considerably lowered, the saliva consistence got normal, the child became more sociable, his interest was noticeable; there had been like a shroud in his eyes, like in a drunk man's, and it disappeared. In an attached document see the results of the amino-acid screening test at the Palladin Institute, Kiev, Urkaine, according to which the case was tentatively diagnosed as nonketotic hyperglycinemia. After a more severe limitation of protein up to 0.5 g per kg daily, the mucus disappeared altogether, the child became much more emotional, started to understand what is being said to him, started trying to roll over and to sit up. Unfortunately we do not have special protein hydrolyzates, this is why since August 2009 the child has not received any additional protein.In November 2009 there appeared oedemata. The doctors insisted these were nutritional (protein-free) edemata and treated him for this kind of edemata and for bronchitis. Then we had his urina tested (urinalysis) and the level of white blood cells (WBCs; leukocytes) almost equalled 20.They started treating his kidneys, but even with the help of strong antibiotics the level of WBCs would lower and in 2-3 days after the course of antibiotics was over, would increase again.To add to the edemata, there appeared redness of skin, peeling and chaps (splits) of skin. One could not even take the child in one's arms because it hurt the child a lot.One arm and one leg (the opposite ones) were twice as big as normal. The initial cause of this state of skin was never defined. The dermatologist assumed it could be the result of the disturbance in zinc metabolism.But literally in three days the skin recovered by itself and got back to its normal state.However, the level of zinc appeared to be five times lower than normal. Only when they started giving zinc to the child, the inflammation in kidneys stopped relapsing.Today the child receives about 1.5 g of protein per kg of his weight daily, mostly in the form of the extensive hydrolysate by Nestle Alfare.As recommended by the doctor of naturopathic medicine, in February 2010 we tried to start giving him the minimal dose of Mumijo.Immediately the child started suffering from myoclonic seizures that usually appear when he gets too much protein;the child stopped making sounds (vowels) that he had been making before with different tones and different face expressions. Up to this moment, the myoclonic seizures recur about once a month for a week until we lower the protein load down to 0.5 g per kg;then with the level of 1.5 g of protein per kg the state seems stable for 3 to 4 weeks, and then again appear the myoclonic seizures.It looks like some toxin accumulates that interferes with the process of development. Now the child on a permanent basis receives 300 mg of L-carnitinе per kg daily; 250 mg of Vitamin B6and 1250 mcg methyl-B12, the active form of folic acid 1600 mcg, zinc sulfate 10 mcg. The child was born in the 38th week of pregnancy, it was his mother's first pregnancy.Up to the 36th week the pregnancy was considered normal.In the 36th week the levels of aspartate aminotransferase/alanine aminotransferase (AST/ALT) in the mother's blood got considerably increased.The mother's state of health was normal, there was found no other anomaly.Ultrasound showed that the baby was putting pressure on the mother's liver, and the doctors decided this was the reason for such blood test results.The labor activity started by itself. According to the doctors, everything went normal.The mother felt the first birth pangs at 12.30. At 13.30 there was the so-called 'hot injection' given (at the moment this was the system used in Ukranian maternity hospitals). We can assume it was calcium chloride.After the injection the mother's temperature considerably increased, up to 39 degrees Centigrade, and the doctors decided on epidural anaesthesia.The baby was born at 16.50 with two loops of cord tightly entangled across his neck; he had been pushed out by the doctors manually.He was born with heartbeat of 140, the skin was pink but he did not breathe by himself.It is most obvious that while he was being pushed out he got strangled. But the neonatologist decided the baby was sleeping because of the epidural anaesthesia.A minute was past, and then they started resuscitating him. After this the baby started breathing by himself in the 3rd minute, his look was straightforward and direct.From the delivery room the baby was taken to the resuscitation department. There, according to the rules for such conditions, they put him in medicinal coma with the help of phenobarbital.All this time the baby was breathing independently, he only spent the first three days of his life in a babies' incubator with additional oxygen delivery.In the fifth day of his life they started giving him baby formula, and there started forming mucus, dense like a jellyfish.At first they thought it was due to pneumonia but the diagnosis was not confirmed.Later they would explain it by neurology reasons.When the baby was 2 months old, the doctors assumed he could have mucoviscidosis (fibrocystic disease of pancreas) but sweat clorides tests did not prove this diagnosis correct, either.In 2009 the DNA analysis for mucoviscidosis did not confirm this diagnosis. After the baby got out of the medicinal coma, he stopped looking direct at things.When the baby was two months we left the hospital and started massage, swimming, dynamic exercises.The baby started recovering physically, but for the absent look.When he was 3 months, he had a strong back, he could control his head almost well, his arms were strong, and almost all the necessary neurologic reflexes recovered and then became extinct.There were three aspects that made his parents sad: his absent look, his unwillingness to eat (each meal was pushing the food inside him and hysterics), and constant vomiting with mucus.When the boy was 4 months old he weighed 5 kg.At 4 months old he appeared to have allergy to sugar (as we gave him a new baby formula). He received an injection of prednisolone and Chloropyramine (this called 'suprastin' in Russian).After the injection he suffered anaphylaxis, and all his muscles seemed to burn out. At the same time, his eyes became clearer. For a day he looked straight ahead, followed objects with his eyes, but later it all got back to the previous state.After this the medicine therapy stopped having any effect. The boy was very selective about his food. At about 5 months old we tried adding a little honey into his baby formula, and he started eating much and with appetite.At 8 months old he weighed 9 kg.But later he caught pneumonia, they started a course of Ceftriaxone injections after which the baby stopped eating again. He quickly lost 2 kg of weight, and maintained the weight of 7 kg for about 2 years. So he stopped putting on any weight. Before we turned for help to Kharkov at the end of 2007, the baby had started suffering from seizures of suffocation at night, approximately once in 2 months.The child woke up in fright, at first he would swallow (gulp down) frequently, then could not breathe in, and we would have to turn to the resuscitation department.In the beginning dexamethasone helped very well, after the breathing got back to normal, the child would vomit a large amount of mucus.But in the later cases even 5 ml of dexamethasone did not help.We use syrup for coughing based on Carbocisteine and then mechanically drain the mucus with the help of an electric pump (generally used for cleaning the nose).At first the doctors thought it was allergy, since the first case happened on the day when the child tasted persimmon for the first time, then they thought he reacted so to milk products, and after it happened for the second time, I put the child on a strict gluten-free and casein-free diet.In the beginning the amount of mucus decreased considerably and abruptly, but in three months gradually it got back to the previous level.
    Anonymous 42789 Replies Flag this Response
  • The child is 6,5 years old. His weight is 11 kg +/- 0.5 kg.He cannot sit up, cannot roll over, cannot hold his head.For a long time he has had no motivation for anything.He does not have any interest in food.He can understand what is being said to him. He cannot talk.There was progress in his speech development after a course of royal jelly and after the first course of methyl and vitamin B12, but later there was a rollback, things got back to the previous state.In 2009 in Kharkov Genetics Institute (Ukraine) under the guidance of Prof. Gretchanina there was a number of tests taken.Molecular blood test: heterozygous compound MTHFR 667C/T and MTRR 66 A/G.Test of acylcarnitine profile according to the method of tandem mass-spectrometry: no change (anomaly) is found.Blood homocysteine equals 14.7.Urine test, organic acids level in urine measured according to the method of gas chromatography: increased content of mercaptoDiacetyl 9-thioglycolic acid, that testifies to the participance of thiol substances in the disruption of the folate metabolism.The diagnosis was defined as organic aciduria against the background of the disturbance of the folate cycle with the influence of thiols on folates.The kind of aciduria was not finally diagnosed.In Kharkov they recommended to limit the amount of protein taken with foods to the amount of 2 g per kg daily. There were no positive changes, and as recommended by the genetic in Dnepropetrovsk the amount of protein was limited to 1.5 g per kg daily.In a week the phlegm viscosity considerably lowered, the saliva consistence got normal, the child became more sociable, his interest was noticeable; there had been like a shroud in his eyes, like in a drunk man's, and it disappeared.In an attached document see the results of the amino-acid screening test at the Palladin Institute, Kiev, Urkaine, according to which the case was tentatively diagnosed as nonketotic hyperglycinemia.After a more severe limitation of protein up to 0.5 g per kg daily, the mucus disappeared altogether, the child became much more emotional, started to understand what is being said to him, started trying to roll over and to sit up.Unfortunately we do not have special protein hydrolyzates, this is why since August 2009 the child has not received any additional protein.In November 2009 there appeared oedemata. The doctors insisted these were nutritional (protein-free) edemata and treated him for this kind of edemata and for bronchitis. Then we had his urina tested (urinalysis) and the level of white blood cells (WBCs; leukocytes) almost equalled 20.They started treating his kidneys, but even with the help of strong antibiotics the level of WBCs would lower and in 2-3 days after the course of antibiotics was over, would increase again.To add to the edemata, there appeared redness of skin, peeling and chaps (splits) of skin. One could not even take the child in one's arms because it hurt the child a lot.One arm and one leg (the opposite ones) were twice as big as normal.The initial cause of this state of skin was never defined. The dermatologist assumed it could be the result of the disturbance in zinc metabolism.But literally in three days the skin recovered by itself and got back to its normal state.However, the level of zinc appeared to be five times lower than normal. Only when they started giving zinc to the child, the inflammation in kidneys stopped relapsing.
    Anonymous 42789 Replies Flag this Response
  • Today the child receives about 1.5 g of protein per kg of his weight daily, mostly in the form of the extensive hydrolysate by Nestle Alfare.As recommended by the doctor of naturopathic medicine, in February 2010 we tried to start giving him the minimal dose of Mumijo.Immediately the child started suffering from myoclonic seizures that usually appear when he gets too much protein;the child stopped making sounds (vowels) that he had been making before with different tones and different face expressions. Up to this moment, the myoclonic seizures recur about once a month for a week until we lower the protein load down to 0.5 g per kg;then with the level of 1.5 g of protein per kg the state seems stable for 3 to 4 weeks, and then again appear the myoclonic seizures.It looks like some toxin accumulates that interferes with the process of development.During the last year the child on a permanent basis receives 300 mg of L-carnitinе per kg daily; 250 mg of Vitamin B6and 1250 mcg methyl-B12, the active form of folic acid 1600 mcg, zinc sulfate 10 mcg.The child was born in the 38th week of pregnancy, it was his mother's first pregnancy.Up to the 36th week the pregnancy was considered normal.In the 36th week the levels of aspartate aminotransferase/alanine aminotransferase (AST/ALT) in the mother's blood got considerably increased.The mother's state of health was normal, there was found no other anomaly.Ultrasound showed that the baby was putting pressure on the mother's liver, and the doctors decided this was the reason for such blood test results.The labor activity started by itself. According to the doctors, everything went normal.The mother felt the first birth pangs at 12.30. At 13.30 there was the so-called 'hot injection' given (at the moment this was the system used in Ukranian maternity hospitals). We can assume it was calcium chloride.After the injection the mother's temperature considerably increased, up to 39 degrees Centigrade, and the doctors decided on epidural anaesthesia.The baby was born at 16.50 with two loops of cord tightly entangled across his neck; he had been pushed out by the doctors manually.He was born with heartbeat of 140, the skin was pink but he did not breathe by himself.It is most obvious that while he was being pushed out he got strangled. But the neonatologist decided the baby was sleeping because of the epidural anaesthesia.A minute was past, and then they started resuscitating him. After this the baby started breathing by himself in the 3rd minute, his look was straightforward and direct.From the delivery room the baby was taken to the resuscitation department. There, according to the rules for such conditions, they put him in medicinal coma with the help of phenobarbital.All this time the baby was breathing independently, he only spent the first three days of his life in a babies' incubator with additional oxygen delivery.In the fifth day of his life they started giving him baby formula, and there started forming mucus, dense like a jellyfish.At first they thought it was due to pneumonia but the diagnosis was not confirmed.Later they would explain it by neurology reasons.When the baby was 2 months old, the doctors assumed he could have mucoviscidosis (fibrocystic disease of pancreas) but sweat clorides tests did not prove this diagnosis correct, either.In 2009 the DNA analysis for mucoviscidosis did not confirm this diagnosis.After the baby got out of the medicinal coma, he stopped looking direct at things.When the baby was two months we left the hospital and started massage, swimming, dynamic exercises.The baby started recovering physically, but for the absent look
    Anonymous 42789 Replies Flag this Response
  • When he was 3 months, he had a strong back, he could control his head almost well, his arms were strong, and almost all the necessary neurologic reflexes recovered and then became extinct.There were three aspects that made his parents sad: his absent look, his unwillingness to eat (each meal was pushing the food inside him and hysterics), and constant vomiting with mucus.When the boy was 4 months old he weighed 5 kg.At 4 months old he appeared to have allergy to sugar (as we gave him a new baby formula). He received an injection of prednisolone and Chloropyramine (this called 'suprastin' in Russian).After the injection he suffered anaphylaxis, and all his muscles seemed to burn out. At the same time, his eyes became clearer. For a day he looked straight ahead, followed objects with his eyes, but later it all got back to the previous state.After this the medicine therapy stopped having any effect.The boy was very selective about his food. At about 5 months old we tried adding a little honey into his baby formula, and he started eating much and with appetite.At 8 months old he weighed 9 kg.But later he caught pneumonia, they started a course of Ceftriaxone injections after which the baby stopped eating again. He quickly lost 2 kg of weight, and maintained the weight of 7 kg for about 2 years. So he stopped putting on any weight.Before we turned for help to Kharkov at the end of 2007, the baby had started suffering from seizures of suffocation at night, approximately once in 2 months.The child woke up in fright, at first he would swallow (gulp down) frequently, then could not breathe in, and we would have to turn to the resuscitation department.In the beginning dexamethasone helped very well, after the breathing got back to normal, the child would vomit a large amount of mucus.But in the later cases even 5 ml of dexamethasone did not help.We use syrup for coughing based on Carbocisteine and then mechanically drain the mucus with the help of an electric pump (generally used for cleaning the nose).At first the doctors thought it was allergy, since the first case happened on the day when the child tasted persimmon for the first time, then they thought he reacted so to milk products, and after it happened for the second time, I put the child on a strict gluten-free and casein-free diet.In the beginning the amount of mucus decreased considerably and abruptly, but in three months gradually it got back to the previous level.When we strictly limited the amount of protein, the seizures stoped on 9 months, but than become againe.
    Anonymous 42789 Replies Flag this Response
  • When he was 3 months, he had a strong back, he could control his head almost well, his arms were strong, and almost all the necessary neurologic reflexes recovered and then became extinct.There were three aspects that made his parents sad: his absent look, his unwillingness to eat (each meal was pushing the food inside him and hysterics), and constant vomiting with mucus.When the boy was 4 months old he weighed 5 kg.At 4 months old he appeared to have allergy to sugar (as we gave him a new baby formula). He received an injection of prednisolone and Chloropyramine (this called 'suprastin' in Russian).After the injection he suffered anaphylaxis, and all his muscles seemed to burn out. At the same time, his eyes became clearer. For a day he looked straight ahead, followed objects with his eyes, but later it all got back to the previous state.After this the medicine therapy stopped having any effect.The boy was very selective about his food. At about 5 months old we tried adding a little honey into his baby formula, and he started eating much and with appetite.At 8 months old he weighed 9 kg.But later he caught pneumonia, they started a course of Ceftriaxone injections after which the baby stopped eating again. He quickly lost 2 kg of weight, and maintained the weight of 7 kg for about 2 years. So he stopped putting on any weight.Before we turned for help to Kharkov at the end of 2007, the baby had started suffering from seizures of suffocation at night, approximately once in 2 months.The child woke up in fright, at first he would swallow (gulp down) frequently, then could not breathe in, and we would have to turn to the resuscitation department.In the beginning dexamethasone helped very well, after the breathing got back to normal, the child would vomit a large amount of mucus.But in the later cases even 5 ml of dexamethasone did not help.We use syrup for coughing based on Carbocisteine and then mechanically drain the mucus with the help of an electric pump (generally used for cleaning the nose).At first the doctors thought it was allergy, since the first case happened on the day when the child tasted persimmon for the first time, then they thought he reacted so to milk products, and after it happened for the second time, I put the child on a strict gluten-free and casein-free diet.In the beginning the amount of mucus decreased considerably and abruptly, but in three months gradually it got back to the previous level.
    Anonymous 42789 Replies Flag this Response
  • When he was 3 months, he had a strong back, he could control his head almost well, his arms were strong, and almost all the necessary neurologic reflexes recovered and then became extinct.There were three aspects that made his parents sad: his absent look, his unwillingness to eat (each meal was pushing the food inside him and hysterics), and constant vomiting with mucus.When the boy was 4 months old he weighed 5 kg.At 4 months old he appeared to have allergy to sugar (as we gave him a new baby formula). He received an injection of prednisolone and Chloropyramine (this called 'suprastin' in Russian).After the injection he suffered anaphylaxis, and all his muscles seemed to burn out. At the same time, his eyes became clearer. For a day he looked straight ahead, followed objects with his eyes, but later it all got back to the previous state.After this the medicine therapy stopped having any effect.The boy was very selective about his food. At about 5 months old we tried adding a little honey into his baby formula, and he started eating much and with appetite.At 8 months old he weighed 9 kg.But later he caught pneumonia, they started a course of Ceftriaxone injections after which the baby stopped eating again. He quickly lost 2 kg of weight, and maintained the weight of 7 kg for about 2 years. So he stopped putting on any weight.Before we turned for help to Kharkov at the end of 2007, the baby had started suffering from seizures of suffocation at night, approximately once in 2 months.The child woke up in fright, at first he would swallow (gulp down) frequently, then could not breathe in, and we would have to turn to the resuscitation department.In the beginning dexamethasone helped very well, after the breathing got back to normal, the child would vomit a large amount of mucus.But in the later cases even 5 ml of dexamethasone did not help.We use syrup for coughing based on Carbocisteine and then mechanically drain the mucus with the help of an electric pump (generally used for cleaning the nose).At first the doctors thought it was allergy, since the first case happened on the day when the child tasted persimmon for the first time, then they thought he reacted so to milk products, and after it happened for the second time, I put the child on a strict gluten-free and casein-free diet.In the beginning the amount of mucus decreased considerably and abruptly, but in three months gradually it got back to the previous level.When the protein was strictly limited, the seizures did not emerge for 9 months. Then they happened again, and yet again after 3 months.We helped the boy out of the latest but one seizure (Sept 7) with the help of 5 cubics of dexamethasone. On the next day, as usual, there was an allergic reaction to dexamethasone, but it was not over soon. In 2 days the child cried for 6 hours without a stop, he started bending out and such. At first I could not understand what the matter was, then diarrhea began. For 2 weeks the child took in Nifuroxazide and Smecta. The diarrhea stopped, but tummy rumbling and discomfort persisted. The child would wake up at night crying, had difficulty going back to sleep. The allergic reaction showed itself on the face, arms, neck, legs. The neck gives him most discomfort, the child is crying. On the whole, the skin looked exactly like it did a year ago, when an acute shortage of zinc was diagnosed.We had no opportunity to check the level of zinc, and instead of 10 milligrams of zinc sulphate the child has been taking in regularly since May we again started giving him zincite and 50 milligrams of Mycosyst. (Before May the child was getting one tablet, 10 milligrams of zincite.)With Mycosyst, the tummy rumbling subsided. The skin regained its normal look within a week from the start of taking zinc in, only skin peeling remained on feet and hands. Within a week I noticed that the boy's hair roots becamse white. Now, despite the zinc, they still remain white. Eyelashes and hair had started falling out, this process was stopped by zinc.Doctors recommended to give him Mycosyst for 2 more weeks. Once again, in a week after we finished this course of Mycosyst, the tummy rumbling reemerged, the boy bends out. There's a thick fur on the tongue, especially in the mornings, it looks like a greenish film.On October 31, at night, there was a seizure again. The breathing was recovered relatively easily, after 3 cubics of dexamethasone and 10 ml of Fluditec. In the morning, once again, the asthmatic fit happened again, and again we injected 3 cubics of dexamethasone. In a day after the injections the state of the skin worsened. Petty rash broke out, at first it was pale, and then got red: on one side of the face, neck, arms, legs, and especially the sides of the back. We started giving the boy Macmiror. At first the rash paled, it looked like it was getting better, but in some 5 days it came back to what is was before. After the complete course of Macmiror a week passed, and the skin paled somewhat. But the eyelashes became pale again, and the hair acquired a reddish tint. At times we see edema on his feet (swollen feet), and a couple of times the urina was dark in color, but lab tests showed no deviation from the norm.In a week after we finished the course of Macmiror, the skin started getting red and peeling again.The doctors prescribed Pyobacteriofag for 20 days. After this course the skin recovered its normal look.In a week it got red again, once again a course of Macmiror. In five days after the course of Macmiror was over, a petty red rash broke out in the groin, at the stomach bottom, on the face and behind the ears; the face got swollen.Once again, we started bacteriofag; the allergic reaction subsided, but there's constant tummy rumbling, flatulence; the child is restless, his sleep got worse, though there was no change in his diet.After a 10-days course of a spirit solution of Chlorophylliptum and Enterogermina, the rash disappeared again.In five days after the polyvalent bacteriofag course completion, small red spots appeared on the skin and it started peeling off.Moreover, like it happened before, there started an inflammation of 2 fingers on one hand; they became hot and red, swollen from inside.The skin on them started cracking and was getting covered with scales.Once again, we started to give him bacteriofag. The hairs became very thin, the new ones that grow have no color in them.At the moment the child is getting L-carnitine 300 milligram per kg, FolaPro 1600 milligrams, Pyridoxal-5-Phosphate (P-5-P) 200 mg, selenium 25 mg, zincite 20 mg, Topamax (that seems to have no effect on the boy) in the minimal dose; methyl B12 2500 micrograms.If the child is not getting P-5-P, methyl B12 or L-carnitine for one or two days, his myoclonias reemerge, and persist for a long time.After the latest fits described, there were three more ones, we managed to stop them with the help of two or three gulps of cough syrup based on Carbocisteine dissolved in water.Moreover, the lab tests showed sudden leaps of copper in the boy's blood from the upper norm limit to exceeding the norm in 1.5 and 2 times; a changing level of cortisol, other hormones are normal. The level of ammonium hydrate in blood was normal, and lactate more than the norm (checked only once).The latest tests results are such:ultrasound of all the organs shows the norm, only the left pelvis (of the kidney) is bigger than the norm;coprogram stool test - normal,lab test for dysbacteriosis showed Klebsiella 10 raised to the 8th power.General urina lab test - normal.General blood lab test - almost normal, the level of Hb is a bit lower than the norm.The level of Ferrum was low, the boy received a course of iron.The kidneys and liver complex lab test showed that alanine-aminotransferase was more than the norm, other parameters normal, the kidneys parameters even lower than the norm.The urina lab test showed 120 cylinders.
    Anonymous 42789 Replies Flag this Response
  • This may be an already answered question, but I have to ask if they have already considered and/or ruled out phenylketonuria(PKU) and Urea Cycle Disorder. Also, do you know what his ammonia levels are? Presumably they'd be different depending on the amount of dietary protein at the time of the sample, but they may provide some illuminating information.
    gregtfish 67 Replies Flag this Response
  • When he was 3 months, he had a strong back, he could control his head almost well, his arms were strong, and almost all the necessary neurologic reflexes recovered and then became extinct.There were three aspects that made his parents sad: his absent look, his unwillingness to eat (each meal was pushing the food inside him and hysterics), and constant vomiting with mucus.When the boy was 4 months old he weighed 5 kg.At 4 months old he appeared to have allergy to sugar (as we gave him a new baby formula). He received an injection of prednisolone and Chloropyramine (this called 'suprastin' in Russian).After the injection he suffered anaphylaxis, and all his muscles seemed to burn out. At the same time, his eyes became clearer. For a day he looked straight ahead, followed objects with his eyes, but later it all got back to the previous state.After this the medicine therapy stopped having any effect.The boy was very selective about his food. At about 5 months old we tried adding a little honey into his baby formula, and he started eating much and with appetite.At 8 months old he weighed 9 kg.But later he caught pneumonia, they started a course of Ceftriaxone injections after which the baby stopped eating again. He quickly lost 2 kg of weight, and maintained the weight of 7 kg for about 2 years. So he stopped putting on any weight.Before we turned for help to Kharkov at the end of 2007, the baby had started suffering from seizures of suffocation at night, approximately once in 2 months.The child woke up in fright, at first he would swallow (gulp down) frequently, then could not breathe in, and we would have to turn to the resuscitation department.In the beginning dexamethasone helped very well, after the breathing got back to normal, the child would vomit a large amount of mucus.But in the later cases even 5 ml of dexamethasone did not help.We use syrup for coughing based on Carbocisteine and then mechanically drain the mucus with the help of an electric pump (generally used for cleaning the nose).At first the doctors thought it was allergy, since the first case happened on the day when the child tasted persimmon for the first time, then they thought he reacted so to milk products, and after it happened for the second time, I put the child on a strict gluten-free and casein-free diet.In the beginning the amount of mucus decreased considerably and abruptly, but in three months gradually it got back to the previous level.When the protein was strictly limited, the seizures did not emerge for 9 months. Then they happened again, and yet again after 3 months.We helped the boy out of the latest but one seizure (Sept 7) with the help of 5 cubics of dexamethasone. On the next day, as usual, there was an allergic reaction to dexamethasone, but it was not over soon. In 2 days the child cried for 6 hours without a stop, he started bending out and such. At first I could not understand what the matter was, then diarrhea began. For 2 weeks the child took in Nifuroxazide and Smecta. The diarrhea stopped, but tummy rumbling and discomfort persisted. The child would wake up at night crying, had difficulty going back to sleep. The allergic reaction showed itself on the face, arms, neck, legs. The neck gives him most discomfort, the child is crying. On the whole, the skin looked exactly like it did a year ago, when an acute shortage of zinc was diagnosed.We had no opportunity to check the level of zinc, and instead of 10 milligrams of zinc sulphate the child has been taking in regularly since May we again started giving him zincite and 50 milligrams of Mycosyst. (Before May the child was getting one tablet, 10 milligrams of zincite.)With Mycosyst, the tummy rumbling subsided. The skin regained its normal look within a week from the start of taking zinc in, only skin peeling remained on feet and hands. Within a week I noticed that the boy's hair roots becamse white. Now, despite the zinc, they still remain white. Eyelashes and hair had started falling out, this process was stopped by zinc.Doctors recommended to give him Mycosyst for 2 more weeks. Once again, in a week after we finished this course of Mycosyst, the tummy rumbling reemerged, the boy bends out. There's a thick fur on the tongue, especially in the mornings, it looks like a greenish film.On October 31, at night, there was a seizure again. The breathing was recovered relatively easily, after 3 cubics of dexamethasone and 10 ml of Fluditec. In the morning, once again, the asthmatic fit happened again, and again we injected 3 cubics of dexamethasone. In a day after the injections the state of the skin worsened. Petty rash broke out, at first it was pale, and then got red: on one side of the face, neck, arms, legs, and especially the sides of the back. We started giving the boy Macmiror. At first the rash paled, it looked like it was getting better, but in some 5 days it came back to what is was before. After the complete course of Macmiror a week passed, and the skin paled somewhat. But the eyelashes became pale again, and the hair acquired a reddish tint. At times we see edema on his feet (swollen feet), and a couple of times the urina was dark in color, but lab tests showed no deviation from the norm.In a week after we finished the course of Macmiror, the skin started getting red and peeling again.The doctors prescribed Pyobacteriofag for 20 days. After this course the skin recovered its normal look.In a week it got red again, once again a course of Macmiror. In five days after the course of Macmiror was over, a petty red rash broke out in the groin, at the stomach bottom, on the face and behind the ears; the face got swollen.Once again, we started bacteriofag; the allergic reaction subsided, but there's constant tummy rumbling, flatulence; the child is restless, his sleep got worse, though there was no change in his diet.After a 10-days course of a spirit solution of Chlorophylliptum and Enterogermina, the rash disappeared again.In five days after the polyvalent bacteriofag course completion, small red spots appeared on the skin and it started peeling off.Moreover, like it happened before, there started an inflammation of 2 fingers on one hand; they became hot and red, swollen from inside.The skin on them started cracking and was getting covered with scales.Once again, we started to give him bacteriofag. The hairs became very thin, the new ones that grow have no color in them.At the moment the child is getting L-carnitine 300 milligram per kg, FolaPro 1600 milligrams, Pyridoxal-5-Phosphate (P-5-P) 200 mg, selenium 25 mg, zincite 20 mg, Topamax (that seems to have no effect on the boy) in the minimal dose; methyl B12 2500 micrograms.If the child is not getting P-5-P, methyl B12 or L-carnitine for one or two days, his myoclonias reemerge, and persist for a long time.After the latest fits described, there were three more ones, we managed to stop them with the help of two or three gulps of cough syrup based on Carbocisteine dissolved in water.Moreover, the lab tests showed sudden leaps of copper in the boy's blood from the upper norm limit to exceeding the norm in 1.5 and 2 times; a changing level of cortisol, other hormones are normal. The level of ammonium hydrate in blood was normal, and lactate more than the norm (checked only once).The latest tests results are such:ultrasound of all the organs shows the norm, only the left pelvis (of the kidney) is bigger than the norm;coprogram stool test - normal,lab test for dysbacteriosis showed Klebsiella 10 raised to the 8th power.General urina lab test - normal.General blood lab test - almost normal, the level of Hb is a bit lower than the norm.The level of Ferrum was low, the boy received a course of iron.The kidneys and liver complex lab test showed that alanine-aminotransferase was more than the norm, other parameters normal, the kidneys parameters even lower than the norm.The urina lab test showed 120 cylinders.
    Anonymous 42789 Replies Flag this Response
  • When he was 3 months, he had a strong back, he could control his head almost well, his arms were strong, and almost all the necessary neurologic reflexes recovered and then became extinct.There were three aspects that made his parents sad: his absent look, his unwillingness to eat (each meal was pushing the food inside him and hysterics), and constant vomiting with mucus.When the boy was 4 months old he weighed 5 kg.At 4 months old he appeared to have allergy to sugar (as we gave him a new baby formula). He received an injection of prednisolone and Chloropyramine (this called 'suprastin' in Russian).After the injection he suffered anaphylaxis, and all his muscles seemed to burn out. At the same time, his eyes became clearer. For a day he looked straight ahead, followed objects with his eyes, but later it all got back to the previous state.After this the medicine therapy stopped having any effect.The boy was very selective about his food. At about 5 months old we tried adding a little honey into his baby formula, and he started eating much and with appetite.At 8 months old he weighed 9 kg.But later he caught pneumonia, they started a course of Ceftriaxone injections after which the baby stopped eating again. He quickly lost 2 kg of weight, and maintained the weight of 7 kg for about 2 years. So he stopped putting on any weight.Before we turned for help to Kharkov at the end of 2007, the baby had started suffering from seizures of suffocation at night, approximately once in 2 months.The child woke up in fright, at first he would swallow (gulp down) frequently, then could not breathe in, and we would have to turn to the resuscitation department.In the beginning dexamethasone helped very well, after the breathing got back to normal, the child would vomit a large amount of mucus.But in the later cases even 5 ml of dexamethasone did not help.We use syrup for coughing based on Carbocisteine and then mechanically drain the mucus with the help of an electric pump (generally used for cleaning the nose).At first the doctors thought it was allergy, since the first case happened on the day when the child tasted persimmon for the first time, then they thought he reacted so to milk products, and after it happened for the second time, I put the child on a strict gluten-free and casein-free diet.In the beginning the amount of mucus decreased considerably and abruptly, but in three months gradually it got back to the previous level.When the protein was strictly limited, the seizures did not emerge for 9 months. Then they happened again, and yet again after 3 months.We helped the boy out of the latest but one seizure (Sept 7) with the help of 5 cubics of dexamethasone. On the next day, as usual, there was an allergic reaction to dexamethasone, but it was not over soon. In 2 days the child cried for 6 hours without a stop, he started bending out and such. At first I could not understand what the matter was, then diarrhea began. For 2 weeks the child took in Nifuroxazide and Smecta. The diarrhea stopped, but tummy rumbling and discomfort persisted. The child would wake up at night crying, had difficulty going back to sleep. The allergic reaction showed itself on the face, arms, neck, legs. The neck gives him most discomfort, the child is crying. On the whole, the skin looked exactly like it did a year ago, when an acute shortage of zinc was diagnosed.We had no opportunity to check the level of zinc, and instead of 10 milligrams of zinc sulphate the child has been taking in regularly since May we again started giving him zincite and 50 milligrams of Mycosyst. (Before May the child was getting one tablet, 10 milligrams of zincite.)With Mycosyst, the tummy rumbling subsided. The skin regained its normal look within a week from the start of taking zinc in, only skin peeling remained on feet and hands. Within a week I noticed that the boy's hair roots becamse white. Now, despite the zinc, they still remain white. Eyelashes and hair had started falling out, this process was stopped by zinc.Doctors recommended to give him Mycosyst for 2 more weeks. Once again, in a week after we finished this course of Mycosyst, the tummy rumbling reemerged, the boy bends out. There's a thick fur on the tongue, especially in the mornings, it looks like a greenish film.
    Anonymous 42789 Replies Flag this Response
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  • When the protein was strictly limited, the seizures did not emerge for 9 months. Then they happened again, and yet again after 3 months.We helped the boy out of the latest but one seizure (Sept 7) with the help of 5 cubics of dexamethasone. On the next day, as usual, there was an allergic reaction to dexamethasone, but it was not over soon. In 2 days the child cried for 6 hours without a stop, he started bending out and such. At first I could not understand what the matter was, then diarrhea began. For 2 weeks the child took in Nifuroxazide and Smecta. The diarrhea stopped, but tummy rumbling and discomfort persisted. The child would wake up at night crying, had difficulty going back to sleep. The allergic reaction showed itself on the face, arms, neck, legs. The neck gives him most discomfort, the child is crying. On the whole, the skin looked exactly like it did a year ago, when an acute shortage of zinc was diagnosed.We had no opportunity to check the level of zinc, and instead of 10 milligrams of zinc sulphate the child has been taking in regularly since May we again started giving him zincite and 50 milligrams of Mycosyst. (Before May the child was getting one tablet, 10 milligrams of zincite.)With Mycosyst, the tummy rumbling subsided. The skin regained its normal look within a week from the start of taking zinc in, only skin peeling remained on feet and hands. Within a week I noticed that the boy's hair roots becamse white. Now, despite the zinc, they still remain white. Eyelashes and hair had started falling out, this process was stopped by zinc.Doctors recommended to give him Mycosyst for 2 more weeks. Once again, in a week after we finished this course of Mycosyst, the tummy rumbling reemerged, the boy bends out. There's a thick fur on the tongue, especially in the mornings, it looks like a greenish filmOn October 31, at night, there was a seizure again. The breathing was recovered relatively easily, after 3 cubics of dexamethasone and 10 ml of Fluditec. In the morning, once again, the asthmatic fit happened again, and again we injected 3 cubics of dexamethasone. In a day after the injections the state of the skin worsened. Petty rash broke out, at first it was pale, and then got red: on one side of the face, neck, arms, legs, and especially the sides of the back. We started giving the boy Macmiror. At first the rash paled, it looked like it was getting better, but in some 5 days it came back to what is was before. After the complete course of Macmiror a week passed, and the skin paled somewhat. But the eyelashes became pale again, and the hair acquired a reddish tint. At times we see edema on his feet (swollen feet), and a couple of times the urina was dark in color, but lab tests showed no deviation from the norm.In a week after we finished the course of Macmiror, the skin started getting red and peeling again.The doctors prescribed Pyobacteriofag for 20 days. After this course the skin recovered its normal look.In a week it got red again, once again a course of Macmiror. In five days after the course of Macmiror was over, a petty red rash broke out in the groin, at the stomach bottom, on the face and behind the ears; the face got swollen.Once again, we started bacteriofag; the allergic reaction subsided, but there's constant tummy rumbling, flatulence; the child is restless, his sleep got worse, though there was no change in his diet.After a 10-days course of a spirit solution of Chlorophylliptum and Enterogermina, the rash disappeared again.In five days after the polyvalent bacteriofag course completion, small red spots appeared on the skin and it started peeling off.Moreover, like it happened before, there started an inflammation of 2 fingers on one hand; they became hot and red, swollen from inside.The skin on them started cracking and was getting covered with scales.Once again, we started to give him bacteriofag. The hairs became very thin, the new ones that grow have no color in them.At the moment the child is getting L-carnitine 300 milligram per kg, Fola Pro 1600 milligrams, Pyridoxal-5-Phosphate (P-5-P) 200 mg, selenium 25 mg, zincite 20 mg, Topamax (that seems to have no effect on the boy) in the minimal dose; methyl B12 2500 micrograms.If the child is not getting P-5-P, methyl B12 or L-carnitine for one or two days, his myoclonias reemerge, and persist for a long time.After the latest fits described, there were three more ones, we managed to stop them with the help of two or three gulps of cough syrup based on Carbocisteine dissolved in water.Moreover, the lab tests showed sudden leaps of copper in the boy's blood from the upper norm limit to exceeding the norm in 1.5 and 2 times; a changing level of cortisol, other hormones are normal. The level of ammonium hydrate in blood was normal, and lactate more than the norm (checked only once).The latest tests results are such:ultrasound of all the organs shows the norm, only the left pelvis (of the kidney) is bigger than the norm;coprogram stool test - normal,lab test for dysbacteriosis showed Klebsiella 10 raised to the 8th power.General urina lab test - normal.General blood lab test - almost normal, the level of Hb is a bit lower than the norm.The level of Ferrum was low, the boy received a course of iron.The kidneys and liver complex lab test showed that alanine-aminotransferase was more than the norm, other parameters normal, the kidneys parameters even lower than the norm.The urina lab test showed 120 cylinders.
    Anonymous 42789 Replies Flag this Response
  • On October 31, at night, there was a seizure again. The breathing was recovered relatively easily, after 3 cubics of dexamethasone and 10 ml of Fluditec. In the morning, once again, the asthmatic fit happened again, and again we injected 3 cubics of dexamethasone. In a day after the injections the state of the skin worsened. Petty rash broke out, at first it was pale, and then got red: on one side of the face, neck, arms, legs, and especially the sides of the back. We started giving the boy Macmiror. At first the rash paled, it looked like it was getting better, but in some 5 days it came back to what is was before. After the complete course of Macmiror a week passed, and the skin paled somewhat. But the eyelashes became pale again, and the hair acquired a reddish tint. At times we see edema on his feet (swollen feet), and a couple of times the urina was dark in color, but lab tests showed no deviation from the norm.In a week after we finished the course of Macmiror, the skin started getting red and peeling again.The doctors prescribed Pyobacteriofag for 20 days. After this course the skin recovered its normal look.In a week it got red again, once again a course of Macmiror. In five days after the course of Macmiror was over, a petty red rash broke out in the groin, at the stomach bottom, on the face and behind the ears; the face got swollen.Once again, we started bacteriofag; the allergic reaction subsided, but there's constant tummy rumbling, flatulence; the child is restless, his sleep got worse, though there was no change in his diet.After a 10-days course of a spirit solution of Chlorophylliptum and Enterogermina, the rash disappeared again.In five days after the polyvalent bacteriofag course completion, small red spots appeared on the skin and it started peeling off.Moreover, like it happened before, there started an inflammation of 2 fingers on one hand; they became hot and red, swollen from inside.The skin on them started cracking and was getting covered with scales.Once again, we started to give him bacteriofag. The hairs became very thin, the new ones that grow have no color in them.At the moment the child is getting L-carnitine 300 milligram per kg, Fola Pro 1600 milligrams, Pyridoxal-5-Phosphate (P-5-P) 200 mg, selenium 25 mg, zincite 20 mg, Topamax (that seems to have no effect on the boy) in the minimal dose; methyl B12 2500 micrograms.If the child is not getting P-5-P, methyl B12 or L-carnitine for one or two days, his myoclonias reemerge, and persist for a long time.After the latest fits described, there were three more ones, we managed to stop them with the help of two or three gulps of cough syrup based on Carbocisteine dissolved in water.Moreover, the lab tests showed sudden leaps of copper in the boy's blood from the upper norm limit to exceeding the norm in 1.5 and 2 times; a changing level of cortisol, other hormones are normal. The level of ammonium hydrate in blood was normal, and lactate more than the norm (checked only once).The latest tests results are such:ultrasound of all the organs shows the norm, only the left pelvis (of the kidney) is bigger than the norm;coprogram stool test - normal,lab test for dysbacteriosis showed Klebsiella 10 raised to the 8th power.General urina lab test - normal.General blood lab test - almost normal, the level of Hb is a bit lower than the norm.The level of Ferrum was low, the boy received a course of iron.The kidneys and liver complex lab test showed that alanine-aminotransferase was more than the norm, other parameters normal, the kidneys parameters even lower than the norm.The urina lab test showed 120 cylinde
    Anonymous 42789 Replies Flag this Response
  • Looking for a Host to Run my server until I can fix my Problems My server is a new server and does not have much work done to it yet. The Host has to agree to my Dreams of making a Fun interesting server with lots of adventure, and the fact that I allow PvP but am not baseing the server completely around it. The host will have administrator access even after I am once again in charge of my own Server. The Host must be be at least 18 years old.
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  • Help us, please
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