Guest guest Posted June 10, 1999 Report Share Posted June 10, 1999 , My family can identify with a number of your sons behaviors/symptoms. I don't recognize the technical skin rash name you mention, but we have had skin rash problems even to the point of an 18 month old relative dieing of eczema and some kids skin burning from things like cinnamon spilt on it or ranch dressing. Also, spacing out all the time. We have the legs giving out, last night a 7 yr old told me his muscles in the back of his ankles hurt and won't work right-before it was his knees giving out, a 3 yr old says her legs won't walk for her. We also will be holding something and all of a sudden just drop it-don't know what happens but it feels like WOW, how clumsy of me. Or we miscalculate someway and miss an object we are aiming for knocking it over or walk into the doorframe. Never heard scoliosis mentioned on here but we have a lot of that (mild in most family members-1 wore a back brace), we have the kids that constantly scale sheer sides of things like refrigerator, etc. and climb all over the counters suddenly leaping off and rolling or leaping from thing to thing, NOTHING is out of their reach and they are fast as lightening. Almost like a bunch of taut rubber bands that are alive bouncing and flipping around the house, car, and world. Or spider monkeys. We have done the one minute they know something and the next they don't. We do the wave my hand in front of their face, hello-are you there? Constantly hear, Huh? And they say, I thought you said such and such and I am the one saying, Huh? They themselves do the spinning or arm flapping, count things whirring by the car, or come up with repetitive motions and sounds. The facial tics-is he on any medication? Some can cause this to happen, but it is a Tourette's symptom as you know. We have some members with this too. You say he's irritable with playmates? Is that like he can't socialize like normal? I was just thinking about that yest. with 4 grandkids playing here. They should have been having a ball in the big forested yard with all the toys and each other, but NO. Every 5 min. or so there was a problem as none of them can socialize in a normal manner. They don't seem to understand how to play/work together and even as adults we don't fit in with society. It's sad and so much effort and so stressful. I'm not sure what you mean with your little one. Eye problems are mentioned on this list over and over, all sorts of types of things. The white stools are when there is not enough bile is my understanding. We had that when we had hepatitis (1977), but I have had it itermittantly since and supposedly my liver is OK now. In your son's case it is important for the Dr. to check out, I'm sure. The over affectionate caught my eye as some of our kids do that and we have had to work with them to explain you don't just go up to a stranger and hug them or tell the world your family history and genealogy (wait a minute, are we talking about the kids or the adults?-we do this too now that I think about it, and people either like or hate you right off based on this openness). It's like the appropriate boundaries aren't there. 3 yr old Tasha saw a food delivery truck yest. and when I explained they delivered food to houses she says, can I kiss him 3 times? We had to explain to several of the boys that other kids don't esp. like you hugging them so much, they feel embarressed and it will be harder for you to make friends if you do that too much. Yes, the people in my family are extremely smart like your son and I think it may be partly because we have to work so hard to overcome the disabilities that we develop extra brain connections in numerous areas of the brain and have to come up with so many coping mechanisms to stay alive and function somewhat. I think my intensive searching for answers is what has saved me by helping my brain this way. It's like the more you learn the more you are able to learn. Many people on this list tell how bright their little ones are no matter how severe some of the disabilities or symptoms are and everyone who writes on here sound very bright to me also. There is a form of intelligence that I don't know if anyone has exactly identified that seems to surpass what is normally considered " smart " that I see on here. It is more related to wisdom and sensitivity. I think pain and fear and love hones this type of intelligence. You see this kind of special understanding in the eyes of these little ones that struggle so hard. Hope any of this rambling on has helped you. S. An introduction... > > >Hello all. I have now joined this list due to the encouragement of Terri Mason, who has been helping me >sort out some of my son's health problems over the last year. > >My son will be 2 1/2 at the end of this month. He was the result of a perfect pregnancy and perfect >birth. He had no health problems until last August, except for mild laryngeal stridor and a skin rash >(keratosis pilaris), which he STILL has. He cannot walk independently, although he walks holding hands >and takes independent steps between furniture. He is mildly hypotonic (but extremely strong), mildly >ataxic, and has scoliosis (20 degrees). Although he has never slept through the night, he was a perfectly >normal little boy until last August, when he developed nystagmus (four weeks after his MMR vaccine). It >was then that we found out he has pale optic nerves, which appear to be static in nature for the moment. >He was the smartest little boy in the world until about 4 weeks ago, when he seemed to stop understanding >the spoken word. We used to play games where we would sit down and I would say, " Okay, tell me what's at >Grandmommy's house, " then he would go on to list the many things that he loved to do and see at grandma's. >Now when I ask him, he gives me a dumb look and says nothing. He is showing signs of autism (big time). >He has been irritable in strange settings his whole life. He doesn't play with other kids and doesn't >like toys (he prefers books and videos). He loves looking at things that spin, especially fans. He climbs >on EVERYTHING and seems to amuse himself quite well. He has developed a strange facial tic and has been >grunting and babbling non-stop since December, as well as doing some strange things with his hands (all >autistic behaviors). Autism and Tourette's runs in my family, but not the vision problem or ataxia. In >addition, snores terribly and has sleep apnea. He has also had loose stools his entire life, >sometimes white in color, although he has never had a problem eating or swallowing and has only vomited >twice in his life. I don't think he has seizures, but he does " shake " sometimes when he is asleep after >he has snored, then rubs his nose really hard. > >We have run through most tests for , including an MRI last September which was negative, blood for >amino and organic acids, as well as mitochondrial deletions. We are currently awaiting results for >bloodwork for things like hereditary ataxias and leukodystrophies. However, the doctors have hinted >around that they think may fit into the category of mitochondrial disease, even though his blood work >was negative. > >Does any of this sound familiar? I know doesn't sound as severe as some of the posts I have read, >and I still wonder if this isn't some sort of congenital condition. But I would love to get feedback from >anyone as to whether or not 's symptoms are typical of mito. disease. I am worried he will never >walk, and more worried that I will never have my little boy back. He just isn't " there " most of the time >anymore. He is extremely happy, very healthy and energetic, embarrassingly affectionate, and smart as a >whip if you can get him to focus (hard to do these days). > >I am looking forward to hearing back from some of you. Thanks so much for listening. > > (mom to , 2 1/2, gross/fine motor delay, nystagmus, optic nerve atrophy, ataxia, autistic >tendencies) > >p.s. Thanks, Terri :-) > > >--------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 10, 1999 Report Share Posted June 10, 1999 , My family can identify with a number of your sons behaviors/symptoms. I don't recognize the technical skin rash name you mention, but we have had skin rash problems even to the point of an 18 month old relative dieing of eczema and some kids skin burning from things like cinnamon spilt on it or ranch dressing. Also, spacing out all the time. We have the legs giving out, last night a 7 yr old told me his muscles in the back of his ankles hurt and won't work right-before it was his knees giving out, a 3 yr old says her legs won't walk for her. We also will be holding something and all of a sudden just drop it-don't know what happens but it feels like WOW, how clumsy of me. Or we miscalculate someway and miss an object we are aiming for knocking it over or walk into the doorframe. Never heard scoliosis mentioned on here but we have a lot of that (mild in most family members-1 wore a back brace), we have the kids that constantly scale sheer sides of things like refrigerator, etc. and climb all over the counters suddenly leaping off and rolling or leaping from thing to thing, NOTHING is out of their reach and they are fast as lightening. Almost like a bunch of taut rubber bands that are alive bouncing and flipping around the house, car, and world. Or spider monkeys. We have done the one minute they know something and the next they don't. We do the wave my hand in front of their face, hello-are you there? Constantly hear, Huh? And they say, I thought you said such and such and I am the one saying, Huh? They themselves do the spinning or arm flapping, count things whirring by the car, or come up with repetitive motions and sounds. The facial tics-is he on any medication? Some can cause this to happen, but it is a Tourette's symptom as you know. We have some members with this too. You say he's irritable with playmates? Is that like he can't socialize like normal? I was just thinking about that yest. with 4 grandkids playing here. They should have been having a ball in the big forested yard with all the toys and each other, but NO. Every 5 min. or so there was a problem as none of them can socialize in a normal manner. They don't seem to understand how to play/work together and even as adults we don't fit in with society. It's sad and so much effort and so stressful. I'm not sure what you mean with your little one. Eye problems are mentioned on this list over and over, all sorts of types of things. The white stools are when there is not enough bile is my understanding. We had that when we had hepatitis (1977), but I have had it itermittantly since and supposedly my liver is OK now. In your son's case it is important for the Dr. to check out, I'm sure. The over affectionate caught my eye as some of our kids do that and we have had to work with them to explain you don't just go up to a stranger and hug them or tell the world your family history and genealogy (wait a minute, are we talking about the kids or the adults?-we do this too now that I think about it, and people either like or hate you right off based on this openness). It's like the appropriate boundaries aren't there. 3 yr old Tasha saw a food delivery truck yest. and when I explained they delivered food to houses she says, can I kiss him 3 times? We had to explain to several of the boys that other kids don't esp. like you hugging them so much, they feel embarressed and it will be harder for you to make friends if you do that too much. Yes, the people in my family are extremely smart like your son and I think it may be partly because we have to work so hard to overcome the disabilities that we develop extra brain connections in numerous areas of the brain and have to come up with so many coping mechanisms to stay alive and function somewhat. I think my intensive searching for answers is what has saved me by helping my brain this way. It's like the more you learn the more you are able to learn. Many people on this list tell how bright their little ones are no matter how severe some of the disabilities or symptoms are and everyone who writes on here sound very bright to me also. There is a form of intelligence that I don't know if anyone has exactly identified that seems to surpass what is normally considered " smart " that I see on here. It is more related to wisdom and sensitivity. I think pain and fear and love hones this type of intelligence. You see this kind of special understanding in the eyes of these little ones that struggle so hard. Hope any of this rambling on has helped you. S. An introduction... > > >Hello all. I have now joined this list due to the encouragement of Terri Mason, who has been helping me >sort out some of my son's health problems over the last year. > >My son will be 2 1/2 at the end of this month. He was the result of a perfect pregnancy and perfect >birth. He had no health problems until last August, except for mild laryngeal stridor and a skin rash >(keratosis pilaris), which he STILL has. He cannot walk independently, although he walks holding hands >and takes independent steps between furniture. He is mildly hypotonic (but extremely strong), mildly >ataxic, and has scoliosis (20 degrees). Although he has never slept through the night, he was a perfectly >normal little boy until last August, when he developed nystagmus (four weeks after his MMR vaccine). It >was then that we found out he has pale optic nerves, which appear to be static in nature for the moment. >He was the smartest little boy in the world until about 4 weeks ago, when he seemed to stop understanding >the spoken word. We used to play games where we would sit down and I would say, " Okay, tell me what's at >Grandmommy's house, " then he would go on to list the many things that he loved to do and see at grandma's. >Now when I ask him, he gives me a dumb look and says nothing. He is showing signs of autism (big time). >He has been irritable in strange settings his whole life. He doesn't play with other kids and doesn't >like toys (he prefers books and videos). He loves looking at things that spin, especially fans. He climbs >on EVERYTHING and seems to amuse himself quite well. He has developed a strange facial tic and has been >grunting and babbling non-stop since December, as well as doing some strange things with his hands (all >autistic behaviors). Autism and Tourette's runs in my family, but not the vision problem or ataxia. In >addition, snores terribly and has sleep apnea. He has also had loose stools his entire life, >sometimes white in color, although he has never had a problem eating or swallowing and has only vomited >twice in his life. I don't think he has seizures, but he does " shake " sometimes when he is asleep after >he has snored, then rubs his nose really hard. > >We have run through most tests for , including an MRI last September which was negative, blood for >amino and organic acids, as well as mitochondrial deletions. We are currently awaiting results for >bloodwork for things like hereditary ataxias and leukodystrophies. However, the doctors have hinted >around that they think may fit into the category of mitochondrial disease, even though his blood work >was negative. > >Does any of this sound familiar? I know doesn't sound as severe as some of the posts I have read, >and I still wonder if this isn't some sort of congenital condition. But I would love to get feedback from >anyone as to whether or not 's symptoms are typical of mito. disease. I am worried he will never >walk, and more worried that I will never have my little boy back. He just isn't " there " most of the time >anymore. He is extremely happy, very healthy and energetic, embarrassingly affectionate, and smart as a >whip if you can get him to focus (hard to do these days). > >I am looking forward to hearing back from some of you. Thanks so much for listening. > > (mom to , 2 1/2, gross/fine motor delay, nystagmus, optic nerve atrophy, ataxia, autistic >tendencies) > >p.s. Thanks, Terri :-) > > >--------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 10, 1999 Report Share Posted September 10, 1999 Hello all. I have now joined this list due to the encouragement of Terri Mason, who has been helping me sort out some of my son's health problems over the last year. My son will be 2 1/2 at the end of this month. He was the result of a perfect pregnancy and perfect birth. He had no health problems until last August, except for mild laryngeal stridor and a skin rash (keratosis pilaris), which he STILL has. He cannot walk independently, although he walks holding hands and takes independent steps between furniture. He is mildly hypotonic (but extremely strong), mildly ataxic, and has scoliosis (20 degrees). Although he has never slept through the night, he was a perfectly normal little boy until last August, when he developed nystagmus (four weeks after his MMR vaccine). It was then that we found out he has pale optic nerves, which appear to be static in nature for the moment. He was the smartest little boy in the world until about 4 weeks ago, when he seemed to stop understanding the spoken word. We used to play games where we would sit down and I would say, " Okay, tell me what's at Grandmommy's house, " then he would go on to list the many things that he loved to do and see at grandma's. Now when I ask him, he gives me a dumb look and says nothing. He is showing signs of autism (big time). He has been irritable in strange settings his whole life. He doesn't play with other kids and doesn't like toys (he prefers books and videos). He loves looking at things that spin, especially fans. He climbs on EVERYTHING and seems to amuse himself quite well. He has developed a strange facial tic and has been grunting and babbling non-stop since December, as well as doing some strange things with his hands (all autistic behaviors). Autism and Tourette's runs in my family, but not the vision problem or ataxia. In addition, snores terribly and has sleep apnea. He has also had loose stools his entire life, sometimes white in color, although he has never had a problem eating or swallowing and has only vomited twice in his life. I don't think he has seizures, but he does " shake " sometimes when he is asleep after he has snored, then rubs his nose really hard. We have run through most tests for , including an MRI last September which was negative, blood for amino and organic acids, as well as mitochondrial deletions. We are currently awaiting results for bloodwork for things like hereditary ataxias and leukodystrophies. However, the doctors have hinted around that they think may fit into the category of mitochondrial disease, even though his blood work was negative. Does any of this sound familiar? I know doesn't sound as severe as some of the posts I have read, and I still wonder if this isn't some sort of congenital condition. But I would love to get feedback from anyone as to whether or not 's symptoms are typical of mito. disease. I am worried he will never walk, and more worried that I will never have my little boy back. He just isn't " there " most of the time anymore. He is extremely happy, very healthy and energetic, embarrassingly affectionate, and smart as a whip if you can get him to focus (hard to do these days). I am looking forward to hearing back from some of you. Thanks so much for listening. (mom to , 2 1/2, gross/fine motor delay, nystagmus, optic nerve atrophy, ataxia, autistic tendencies) p.s. Thanks, Terri :-) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 10, 1999 Report Share Posted September 10, 1999 Welcome , I'm glad you decided to introduce yourself and As you already know, Carl started with nystagmus at 18 months, followed by optic nerve atrophy and ataxia among other things but please don't take that to mean has Leigh's! These symptoms are very common among lots of mitochondrial disorders as you will see and mitochondrial disorders CAN be very manageable. Have you heard anything back on the leukodystrophy and other tests yet? Terri > >Reply-To: Mitoonelist >To: Mitoonelist >Subject: An introduction... >Date: Thu, 09 Sep 1999 22:00:06 -0700 > > > >Hello all. I have now joined this list due to the encouragement of Terri >Mason, who has been helping me >sort out some of my son's health problems over the last year. > >My son will be 2 1/2 at the end of this month. He was the result of a >perfect pregnancy and perfect >birth. He had no health problems until last August, except for mild >laryngeal stridor and a skin rash >(keratosis pilaris), which he STILL has. He cannot walk independently, >although he walks holding hands >and takes independent steps between furniture. He is mildly hypotonic (but >extremely strong), mildly >ataxic, and has scoliosis (20 degrees). Although he has never slept >through the night, he was a perfectly >normal little boy until last August, when he developed nystagmus (four >weeks after his MMR vaccine). It >was then that we found out he has pale optic nerves, which appear to be >static in nature for the moment. >He was the smartest little boy in the world until about 4 weeks ago, when >he seemed to stop understanding >the spoken word. We used to play games where we would sit down and I would >say, " Okay, tell me what's at >Grandmommy's house, " then he would go on to list the many things that he >loved to do and see at grandma's. >Now when I ask him, he gives me a dumb look and says nothing. He is >showing signs of autism (big time). >He has been irritable in strange settings his whole life. He doesn't play >with other kids and doesn't >like toys (he prefers books and videos). He loves looking at things that >spin, especially fans. He climbs >on EVERYTHING and seems to amuse himself quite well. He has developed a >strange facial tic and has been >grunting and babbling non-stop since December, as well as doing some >strange things with his hands (all >autistic behaviors). Autism and Tourette's runs in my family, but not the >vision problem or ataxia. In >addition, snores terribly and has sleep apnea. He has also had loose >stools his entire life, >sometimes white in color, although he has never had a problem eating or >swallowing and has only vomited >twice in his life. I don't think he has seizures, but he does " shake " >sometimes when he is asleep after >he has snored, then rubs his nose really hard. > >We have run through most tests for , including an MRI last September >which was negative, blood for >amino and organic acids, as well as mitochondrial deletions. We are >currently awaiting results for >bloodwork for things like hereditary ataxias and leukodystrophies. >However, the doctors have hinted >around that they think may fit into the category of mitochondrial >disease, even though his blood work >was negative. > >Does any of this sound familiar? I know doesn't sound as severe as >some of the posts I have read, >and I still wonder if this isn't some sort of congenital condition. But I >would love to get feedback from >anyone as to whether or not 's symptoms are typical of mito. disease. >I am worried he will never >walk, and more worried that I will never have my little boy back. He just >isn't " there " most of the time >anymore. He is extremely happy, very healthy and energetic, embarrassingly >affectionate, and smart as a >whip if you can get him to focus (hard to do these days). > >I am looking forward to hearing back from some of you. Thanks so much for >listening. > > (mom to , 2 1/2, gross/fine motor delay, nystagmus, optic nerve >atrophy, ataxia, autistic >tendencies) > >p.s. Thanks, Terri :-) > > >--------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 10, 1999 Report Share Posted September 10, 1999 Welcome , I'm glad you decided to introduce yourself and As you already know, Carl started with nystagmus at 18 months, followed by optic nerve atrophy and ataxia among other things but please don't take that to mean has Leigh's! These symptoms are very common among lots of mitochondrial disorders as you will see and mitochondrial disorders CAN be very manageable. Have you heard anything back on the leukodystrophy and other tests yet? Terri > >Reply-To: Mitoonelist >To: Mitoonelist >Subject: An introduction... >Date: Thu, 09 Sep 1999 22:00:06 -0700 > > > >Hello all. I have now joined this list due to the encouragement of Terri >Mason, who has been helping me >sort out some of my son's health problems over the last year. > >My son will be 2 1/2 at the end of this month. He was the result of a >perfect pregnancy and perfect >birth. He had no health problems until last August, except for mild >laryngeal stridor and a skin rash >(keratosis pilaris), which he STILL has. He cannot walk independently, >although he walks holding hands >and takes independent steps between furniture. He is mildly hypotonic (but >extremely strong), mildly >ataxic, and has scoliosis (20 degrees). Although he has never slept >through the night, he was a perfectly >normal little boy until last August, when he developed nystagmus (four >weeks after his MMR vaccine). It >was then that we found out he has pale optic nerves, which appear to be >static in nature for the moment. >He was the smartest little boy in the world until about 4 weeks ago, when >he seemed to stop understanding >the spoken word. We used to play games where we would sit down and I would >say, " Okay, tell me what's at >Grandmommy's house, " then he would go on to list the many things that he >loved to do and see at grandma's. >Now when I ask him, he gives me a dumb look and says nothing. He is >showing signs of autism (big time). >He has been irritable in strange settings his whole life. He doesn't play >with other kids and doesn't >like toys (he prefers books and videos). He loves looking at things that >spin, especially fans. He climbs >on EVERYTHING and seems to amuse himself quite well. He has developed a >strange facial tic and has been >grunting and babbling non-stop since December, as well as doing some >strange things with his hands (all >autistic behaviors). Autism and Tourette's runs in my family, but not the >vision problem or ataxia. In >addition, snores terribly and has sleep apnea. He has also had loose >stools his entire life, >sometimes white in color, although he has never had a problem eating or >swallowing and has only vomited >twice in his life. I don't think he has seizures, but he does " shake " >sometimes when he is asleep after >he has snored, then rubs his nose really hard. > >We have run through most tests for , including an MRI last September >which was negative, blood for >amino and organic acids, as well as mitochondrial deletions. We are >currently awaiting results for >bloodwork for things like hereditary ataxias and leukodystrophies. >However, the doctors have hinted >around that they think may fit into the category of mitochondrial >disease, even though his blood work >was negative. > >Does any of this sound familiar? I know doesn't sound as severe as >some of the posts I have read, >and I still wonder if this isn't some sort of congenital condition. But I >would love to get feedback from >anyone as to whether or not 's symptoms are typical of mito. disease. >I am worried he will never >walk, and more worried that I will never have my little boy back. He just >isn't " there " most of the time >anymore. He is extremely happy, very healthy and energetic, embarrassingly >affectionate, and smart as a >whip if you can get him to focus (hard to do these days). > >I am looking forward to hearing back from some of you. Thanks so much for >listening. > > (mom to , 2 1/2, gross/fine motor delay, nystagmus, optic nerve >atrophy, ataxia, autistic >tendencies) > >p.s. Thanks, Terri :-) > > >--------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 10, 1999 Report Share Posted September 10, 1999 , No, I didn't get the picture! Can you resend to momalboe@...? I'll be hopeful along with you on the nystagmus/Q10 connection - as you know Carl's nystagmus also disappeared with an increase in coenzyme Q10 and is still gone. Terri > > > >Hi Terri and others! > >No news yet on the blood work. I e-mailed 's neurologist yesterday, and >nothing new has come in. She >wants to do another MRI, but I told her I wanted to hold off until the >blood comes in. Seems silly to do >an MRI now, when these other tests might hold an answer. > >FYI: I upped the COQ10 dosage to 200mg and 's nystagmus is GONE! I >don't know if this is because of >the COQ10 or because he's gotten a couple of good night's sleep. But I am >hopeful. > >Now, if only I could get him to stand up without holding on to something, >I'd be even more happy! I need >to find an orthopedist who is willing to fit for a back brace. A 20 >degree scoliosis is nothing to >take lightly, and they all just want to wait 6 months to see if it gets >worse! My humble (unbiased) >opinion is that 's walking problem has less to do with ataxia and more >to do with the fact that his >spine is crooked. He " leans " into things because it is uncomfortable to >keep his back straight. Anyone >know a good orthopedist in land? > > > >p.s. Terri: Did you get the VERY LARGE picture of I sent you? LOL. I >couldn't figure out how to >shrink it. :-) > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 10, 1999 Report Share Posted September 10, 1999 , No, I didn't get the picture! Can you resend to momalboe@...? I'll be hopeful along with you on the nystagmus/Q10 connection - as you know Carl's nystagmus also disappeared with an increase in coenzyme Q10 and is still gone. Terri > > > >Hi Terri and others! > >No news yet on the blood work. I e-mailed 's neurologist yesterday, and >nothing new has come in. She >wants to do another MRI, but I told her I wanted to hold off until the >blood comes in. Seems silly to do >an MRI now, when these other tests might hold an answer. > >FYI: I upped the COQ10 dosage to 200mg and 's nystagmus is GONE! I >don't know if this is because of >the COQ10 or because he's gotten a couple of good night's sleep. But I am >hopeful. > >Now, if only I could get him to stand up without holding on to something, >I'd be even more happy! I need >to find an orthopedist who is willing to fit for a back brace. A 20 >degree scoliosis is nothing to >take lightly, and they all just want to wait 6 months to see if it gets >worse! My humble (unbiased) >opinion is that 's walking problem has less to do with ataxia and more >to do with the fact that his >spine is crooked. He " leans " into things because it is uncomfortable to >keep his back straight. Anyone >know a good orthopedist in land? > > > >p.s. Terri: Did you get the VERY LARGE picture of I sent you? LOL. I >couldn't figure out how to >shrink it. :-) > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 10, 1999 Report Share Posted September 10, 1999 Hi , Welcome to the list. I am sure you will find it helpful. I wanted to respond to your message because your son, , sounds similar to my daughter, Jill, who is going to turn ten years old this month. Jill has severe ataxia that started out when she was around 's age. At that time, she started falling and initially we thought it was because of her visual problems but realized after awhile that it was a separate issue. Like she started hanging onto furniture for support. Over time as the ataxia worsened, we got her a walker for extra support and safety. Jill was also hypotonic, which changed to hypertonic over the years but I'm not exactly sure why that happens but I've heard it is not that uncommon. Jill developed nystagmus at six weeks of age. This was one of our first indications that something was wrong. Although it was quite severe then, it has lessened over time and is more pronounced only when she is tired or ill. Jill has Retinitis Pigmentosa and is quite visually impaired but not totally blind. Jill is developmentally delayed because she has trouble processing information. She can't retrieve the words she wants to use to get her point across. Routine is very important and she also seems lost in a new place or situation. Part of that is due to the fact that she learns things from experience and can't utilize the things she has learned in a new situation. For example, if she learns to recognize a word in a book at school she will not recognize the same word on a soup can in the grocery store. She is not autistic but her inability to process things correctly does make communicating more difficult for her. Despite all this, she is a very happy girl and very affectionate. Our children do sound somewhat similar in symptoms so I wanted to tell you about Jill and offer any encouragement that I can. I know it can be really hard sometimes but this list is a great place to help you get over the rough spots. It certainly has helped me. If you ever want to ask me any questions feel free to do so, either through this list or you can E-mail me privately. All the best to you and your family. Take care . Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 10, 1999 Report Share Posted September 10, 1999 , I am so glad you have decided to join us and sent your very interesting post. I am in the same breath - sorry that the three of you are experiencing all these problems. It is so difficult to watch you child regress. I am a grandmother now, but I have seen this and there was no help 25 years ago, because the doctors didn't have any idea what to do with a child with autistic tendancys. I have also see it go in the other direction with one of my grandchildren, so never give up hope. Please know that we are all here for you thru the testings, results, good times and bad that you are bound to experience. Even though your child's health issues may not seem as serious to you as others on the list....he is still very important to us and especially to you. Welcome Steve, & <smile> Alice Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 10, 1999 Report Share Posted September 10, 1999 , I am so glad you have decided to join us and sent your very interesting post. I am in the same breath - sorry that the three of you are experiencing all these problems. It is so difficult to watch you child regress. I am a grandmother now, but I have seen this and there was no help 25 years ago, because the doctors didn't have any idea what to do with a child with autistic tendancys. I have also see it go in the other direction with one of my grandchildren, so never give up hope. Please know that we are all here for you thru the testings, results, good times and bad that you are bound to experience. Even though your child's health issues may not seem as serious to you as others on the list....he is still very important to us and especially to you. Welcome Steve, & <smile> Alice Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 10, 1999 Report Share Posted September 10, 1999 Hi Terri and others! No news yet on the blood work. I e-mailed 's neurologist yesterday, and nothing new has come in. She wants to do another MRI, but I told her I wanted to hold off until the blood comes in. Seems silly to do an MRI now, when these other tests might hold an answer. FYI: I upped the COQ10 dosage to 200mg and 's nystagmus is GONE! I don't know if this is because of the COQ10 or because he's gotten a couple of good night's sleep. But I am hopeful. Now, if only I could get him to stand up without holding on to something, I'd be even more happy! I need to find an orthopedist who is willing to fit for a back brace. A 20 degree scoliosis is nothing to take lightly, and they all just want to wait 6 months to see if it gets worse! My humble (unbiased) opinion is that 's walking problem has less to do with ataxia and more to do with the fact that his spine is crooked. He " leans " into things because it is uncomfortable to keep his back straight. Anyone know a good orthopedist in land? p.s. Terri: Did you get the VERY LARGE picture of I sent you? LOL. I couldn't figure out how to shrink it. :-) Terri Mason wrote: > > > Welcome , I'm glad you decided to introduce yourself and As > you already know, Carl started with nystagmus at 18 months, followed by > optic nerve atrophy and ataxia among other things but please don't take that > to mean has Leigh's! These symptoms are very common among lots of > mitochondrial disorders as you will see and mitochondrial disorders CAN be > very manageable. > > Have you heard anything back on the leukodystrophy and other tests yet? > > Terri > > > > >Reply-To: Mitoonelist > >To: Mitoonelist > >Subject: An introduction... > >Date: Thu, 09 Sep 1999 22:00:06 -0700 > > > > > > > >Hello all. I have now joined this list due to the encouragement of Terri > >Mason, who has been helping me > >sort out some of my son's health problems over the last year. > > > >My son will be 2 1/2 at the end of this month. He was the result of a > >perfect pregnancy and perfect > >birth. He had no health problems until last August, except for mild > >laryngeal stridor and a skin rash > >(keratosis pilaris), which he STILL has. He cannot walk independently, > >although he walks holding hands > >and takes independent steps between furniture. He is mildly hypotonic (but > >extremely strong), mildly > >ataxic, and has scoliosis (20 degrees). Although he has never slept > >through the night, he was a perfectly > >normal little boy until last August, when he developed nystagmus (four > >weeks after his MMR vaccine). It > >was then that we found out he has pale optic nerves, which appear to be > >static in nature for the moment. > >He was the smartest little boy in the world until about 4 weeks ago, when > >he seemed to stop understanding > >the spoken word. We used to play games where we would sit down and I would > >say, " Okay, tell me what's at > >Grandmommy's house, " then he would go on to list the many things that he > >loved to do and see at grandma's. > >Now when I ask him, he gives me a dumb look and says nothing. He is > >showing signs of autism (big time). > >He has been irritable in strange settings his whole life. He doesn't play > >with other kids and doesn't > >like toys (he prefers books and videos). He loves looking at things that > >spin, especially fans. He climbs > >on EVERYTHING and seems to amuse himself quite well. He has developed a > >strange facial tic and has been > >grunting and babbling non-stop since December, as well as doing some > >strange things with his hands (all > >autistic behaviors). Autism and Tourette's runs in my family, but not the > >vision problem or ataxia. In > >addition, snores terribly and has sleep apnea. He has also had loose > >stools his entire life, > >sometimes white in color, although he has never had a problem eating or > >swallowing and has only vomited > >twice in his life. I don't think he has seizures, but he does " shake " > >sometimes when he is asleep after > >he has snored, then rubs his nose really hard. > > > >We have run through most tests for , including an MRI last September > >which was negative, blood for > >amino and organic acids, as well as mitochondrial deletions. We are > >currently awaiting results for > >bloodwork for things like hereditary ataxias and leukodystrophies. > >However, the doctors have hinted > >around that they think may fit into the category of mitochondrial > >disease, even though his blood work > >was negative. > > > >Does any of this sound familiar? I know doesn't sound as severe as > >some of the posts I have read, > >and I still wonder if this isn't some sort of congenital condition. But I > >would love to get feedback from > >anyone as to whether or not 's symptoms are typical of mito. disease. > >I am worried he will never > >walk, and more worried that I will never have my little boy back. He just > >isn't " there " most of the time > >anymore. He is extremely happy, very healthy and energetic, embarrassingly > >affectionate, and smart as a > >whip if you can get him to focus (hard to do these days). > > > >I am looking forward to hearing back from some of you. Thanks so much for > >listening. > > > > (mom to , 2 1/2, gross/fine motor delay, nystagmus, optic nerve > >atrophy, ataxia, autistic > >tendencies) > > > >p.s. Thanks, Terri :-) > > > > > >--------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 10, 1999 Report Share Posted September 10, 1999 Hi Terri and others! No news yet on the blood work. I e-mailed 's neurologist yesterday, and nothing new has come in. She wants to do another MRI, but I told her I wanted to hold off until the blood comes in. Seems silly to do an MRI now, when these other tests might hold an answer. FYI: I upped the COQ10 dosage to 200mg and 's nystagmus is GONE! I don't know if this is because of the COQ10 or because he's gotten a couple of good night's sleep. But I am hopeful. Now, if only I could get him to stand up without holding on to something, I'd be even more happy! I need to find an orthopedist who is willing to fit for a back brace. A 20 degree scoliosis is nothing to take lightly, and they all just want to wait 6 months to see if it gets worse! My humble (unbiased) opinion is that 's walking problem has less to do with ataxia and more to do with the fact that his spine is crooked. He " leans " into things because it is uncomfortable to keep his back straight. Anyone know a good orthopedist in land? p.s. Terri: Did you get the VERY LARGE picture of I sent you? LOL. I couldn't figure out how to shrink it. :-) Terri Mason wrote: > > > Welcome , I'm glad you decided to introduce yourself and As > you already know, Carl started with nystagmus at 18 months, followed by > optic nerve atrophy and ataxia among other things but please don't take that > to mean has Leigh's! These symptoms are very common among lots of > mitochondrial disorders as you will see and mitochondrial disorders CAN be > very manageable. > > Have you heard anything back on the leukodystrophy and other tests yet? > > Terri > > > > >Reply-To: Mitoonelist > >To: Mitoonelist > >Subject: An introduction... > >Date: Thu, 09 Sep 1999 22:00:06 -0700 > > > > > > > >Hello all. I have now joined this list due to the encouragement of Terri > >Mason, who has been helping me > >sort out some of my son's health problems over the last year. > > > >My son will be 2 1/2 at the end of this month. He was the result of a > >perfect pregnancy and perfect > >birth. He had no health problems until last August, except for mild > >laryngeal stridor and a skin rash > >(keratosis pilaris), which he STILL has. He cannot walk independently, > >although he walks holding hands > >and takes independent steps between furniture. He is mildly hypotonic (but > >extremely strong), mildly > >ataxic, and has scoliosis (20 degrees). Although he has never slept > >through the night, he was a perfectly > >normal little boy until last August, when he developed nystagmus (four > >weeks after his MMR vaccine). It > >was then that we found out he has pale optic nerves, which appear to be > >static in nature for the moment. > >He was the smartest little boy in the world until about 4 weeks ago, when > >he seemed to stop understanding > >the spoken word. We used to play games where we would sit down and I would > >say, " Okay, tell me what's at > >Grandmommy's house, " then he would go on to list the many things that he > >loved to do and see at grandma's. > >Now when I ask him, he gives me a dumb look and says nothing. He is > >showing signs of autism (big time). > >He has been irritable in strange settings his whole life. He doesn't play > >with other kids and doesn't > >like toys (he prefers books and videos). He loves looking at things that > >spin, especially fans. He climbs > >on EVERYTHING and seems to amuse himself quite well. He has developed a > >strange facial tic and has been > >grunting and babbling non-stop since December, as well as doing some > >strange things with his hands (all > >autistic behaviors). Autism and Tourette's runs in my family, but not the > >vision problem or ataxia. In > >addition, snores terribly and has sleep apnea. He has also had loose > >stools his entire life, > >sometimes white in color, although he has never had a problem eating or > >swallowing and has only vomited > >twice in his life. I don't think he has seizures, but he does " shake " > >sometimes when he is asleep after > >he has snored, then rubs his nose really hard. > > > >We have run through most tests for , including an MRI last September > >which was negative, blood for > >amino and organic acids, as well as mitochondrial deletions. We are > >currently awaiting results for > >bloodwork for things like hereditary ataxias and leukodystrophies. > >However, the doctors have hinted > >around that they think may fit into the category of mitochondrial > >disease, even though his blood work > >was negative. > > > >Does any of this sound familiar? I know doesn't sound as severe as > >some of the posts I have read, > >and I still wonder if this isn't some sort of congenital condition. But I > >would love to get feedback from > >anyone as to whether or not 's symptoms are typical of mito. disease. > >I am worried he will never > >walk, and more worried that I will never have my little boy back. He just > >isn't " there " most of the time > >anymore. He is extremely happy, very healthy and energetic, embarrassingly > >affectionate, and smart as a > >whip if you can get him to focus (hard to do these days). > > > >I am looking forward to hearing back from some of you. Thanks so much for > >listening. > > > > (mom to , 2 1/2, gross/fine motor delay, nystagmus, optic nerve > >atrophy, ataxia, autistic > >tendencies) > > > >p.s. Thanks, Terri :-) > > > > > >--------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 11, 1999 Report Share Posted September 11, 1999 In a message dated 9/10/99 6:46:28 PM Eastern Daylight Time, sfitzger@... writes: << will be seeing a gastroenterologist at s Hopkins next week. >> : Who are you going to see. Clayton sees Dr. Katz at KKI but he also works out of Hopkins. Love, Sharon Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 11, 1999 Report Share Posted September 11, 1999 In a message dated 9/10/99 6:46:28 PM Eastern Daylight Time, sfitzger@... writes: << will be seeing a gastroenterologist at s Hopkins next week. >> : Who are you going to see. Clayton sees Dr. Katz at KKI but he also works out of Hopkins. Love, Sharon Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 11, 1999 Report Share Posted September 11, 1999 In a message dated 9/10/99 6:46:28 PM Eastern Daylight Time, sfitzger@... writes: << will be seeing a gastroenterologist at s Hopkins next week. >> : Who are you going to see. Clayton sees Dr. Katz at KKI but he also works out of Hopkins. Love, Sharon Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 11, 1999 Report Share Posted September 11, 1999 Dear & : Welcome to our list. I am hopeful you will find if not snwers to all of your many questions, then at least comfort, support, and the knowledge that you are NOT alone!! My heart goes out to your family; it is so very frustrating to watch your child (or anyone) go through terrible times. My daughter, Lexi, is almost 18 months old, with a non-specified mito disorder (probably on her respiratory transport chain), and also has sleep apnea, seizures, bowel problems, and some mild gross motor delays. She also has severe feeding problems and sensory integration problems. I know you are hurting, confused, and undoubtedly scared out of your mind for your precious boy; but please know that the people here really do care about you and your family. Keep a chin up, and keep us posted!! ruth Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 11, 1999 Report Share Posted September 11, 1999 Dear & : Welcome to our list. I am hopeful you will find if not snwers to all of your many questions, then at least comfort, support, and the knowledge that you are NOT alone!! My heart goes out to your family; it is so very frustrating to watch your child (or anyone) go through terrible times. My daughter, Lexi, is almost 18 months old, with a non-specified mito disorder (probably on her respiratory transport chain), and also has sleep apnea, seizures, bowel problems, and some mild gross motor delays. She also has severe feeding problems and sensory integration problems. I know you are hurting, confused, and undoubtedly scared out of your mind for your precious boy; but please know that the people here really do care about you and your family. Keep a chin up, and keep us posted!! ruth Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 11, 1999 Report Share Posted September 11, 1999 Dear & : Welcome to our list. I am hopeful you will find if not snwers to all of your many questions, then at least comfort, support, and the knowledge that you are NOT alone!! My heart goes out to your family; it is so very frustrating to watch your child (or anyone) go through terrible times. My daughter, Lexi, is almost 18 months old, with a non-specified mito disorder (probably on her respiratory transport chain), and also has sleep apnea, seizures, bowel problems, and some mild gross motor delays. She also has severe feeding problems and sensory integration problems. I know you are hurting, confused, and undoubtedly scared out of your mind for your precious boy; but please know that the people here really do care about you and your family. Keep a chin up, and keep us posted!! ruth Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 11, 1999 Report Share Posted September 11, 1999 Hmmm...Are autistic behaviors part of mito disease? I wasn't sure. will be seeing a gastroenterologist at s Hopkins next week. He also has had a workup by a neurologist. Mitochondrial cytopathy is still in the differential diagnosis, as well as Batten's Disease and neuroxaonal dystrophy...I would much rather we find mito than those other two. The tests for Leukodystrophy just came back negative. HURRAY! One down, many, many more to go. Goldenfam4@... wrote: > From: Goldenfam4@... > > In a message dated 9/10/99 1:17:33 AM Eastern Daylight Time, > sfitzger@... writes: > > << He has also had loose stools his entire life, > sometimes white in color, although he has never had a problem eating or > swallowing and has only vomited >> > > , When was in NICU with a bout of Sepsis he also developed white > or clay colored stools------if my memory serves me that indicates a > gallbladder problem and the lack of bile production. Has anyone ever done an > GI testing on him? > > I understand youre frustration as well as your fear----------that is > something we all can relate to. It sounds to me like your son maybe > exhibiting some of the Mito symptoms but I am not an expert. Has he been > seen by a Ped Neuro? I would definetly consider a GI and Neuro workup if he > hasn't already had them. > > It is good to have you here----welcome. I hope some of the parents who are > more versed in the Autstic behaviors can help you > > and Complex II -III > > --------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 11, 1999 Report Share Posted September 11, 1999 Hmmm...Are autistic behaviors part of mito disease? I wasn't sure. will be seeing a gastroenterologist at s Hopkins next week. He also has had a workup by a neurologist. Mitochondrial cytopathy is still in the differential diagnosis, as well as Batten's Disease and neuroxaonal dystrophy...I would much rather we find mito than those other two. The tests for Leukodystrophy just came back negative. HURRAY! One down, many, many more to go. Goldenfam4@... wrote: > From: Goldenfam4@... > > In a message dated 9/10/99 1:17:33 AM Eastern Daylight Time, > sfitzger@... writes: > > << He has also had loose stools his entire life, > sometimes white in color, although he has never had a problem eating or > swallowing and has only vomited >> > > , When was in NICU with a bout of Sepsis he also developed white > or clay colored stools------if my memory serves me that indicates a > gallbladder problem and the lack of bile production. Has anyone ever done an > GI testing on him? > > I understand youre frustration as well as your fear----------that is > something we all can relate to. It sounds to me like your son maybe > exhibiting some of the Mito symptoms but I am not an expert. Has he been > seen by a Ped Neuro? I would definetly consider a GI and Neuro workup if he > hasn't already had them. > > It is good to have you here----welcome. I hope some of the parents who are > more versed in the Autstic behaviors can help you > > and Complex II -III > > --------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 11, 1999 Report Share Posted September 11, 1999 Hi, Terri My name is and my son has mito chondria myopathy, and he is 7years old he weighs 47 pounds and takes 200mg of the cq 10 do you think thats a big enough dose? I'm the one who put him on it so I'm not sure if that is enough for his weight. I break the capsule and put in his applesauce along with his b-50. has been on it for 5 months with no effects but who knows if it is working or not. Let me know what you think. Thanks F. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 11, 1999 Report Share Posted September 11, 1999 Hi, Terri My name is and my son has mito chondria myopathy, and he is 7years old he weighs 47 pounds and takes 200mg of the cq 10 do you think thats a big enough dose? I'm the one who put him on it so I'm not sure if that is enough for his weight. I break the capsule and put in his applesauce along with his b-50. has been on it for 5 months with no effects but who knows if it is working or not. Let me know what you think. Thanks F. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 11, 1999 Report Share Posted September 11, 1999 Hi, Terri My name is and my son has mito chondria myopathy, and he is 7years old he weighs 47 pounds and takes 200mg of the cq 10 do you think thats a big enough dose? I'm the one who put him on it so I'm not sure if that is enough for his weight. I break the capsule and put in his applesauce along with his b-50. has been on it for 5 months with no effects but who knows if it is working or not. Let me know what you think. Thanks F. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 12, 1999 Report Share Posted September 12, 1999 , I'm not a doctor by any means (I don't even play one on T.V. so I wouldn't begin to presume to know what might be right for . I will say that certain mito experts recommend the 10mg per kg for 6 months and if no improvement, they recommend that it be raised to 20mg per kg. If still no improvement in 6 months, I believe they recommend that it be discontinued, but I don't know that for sure. At 47 pounds weighs a little over 21 kg so the recommended dosage according to the above formula would be 210-420 mgs, so I'd say you are pretty close to the above recommendation at least. I strongly recommend however that you check with 's doctor(s) before making any changes in his meds. Terri >From: PFlicek@... >Reply-To: Mitoonelist >To: Mitoonelist >Subject: Re: An introduction... >Date: Sat, 11 Sep 1999 19:44:41 EDT > >From: PFlicek@... > >Hi, Terri >My name is and my son has mito chondria myopathy, and he is >7years old he weighs 47 pounds and takes 200mg of the cq 10 do you think >thats a big enough dose? I'm the one who put him on it so I'm not sure if >that is enough for his weight. I break the capsule and put in his >applesauce >along with his b-50. > has been on it for 5 months with no effects but who knows if it is >working or not. Let me know what you think. > Thanks F. > >--------------------------- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 12, 1999 Report Share Posted September 12, 1999 , I'm not a doctor by any means (I don't even play one on T.V. so I wouldn't begin to presume to know what might be right for . I will say that certain mito experts recommend the 10mg per kg for 6 months and if no improvement, they recommend that it be raised to 20mg per kg. If still no improvement in 6 months, I believe they recommend that it be discontinued, but I don't know that for sure. At 47 pounds weighs a little over 21 kg so the recommended dosage according to the above formula would be 210-420 mgs, so I'd say you are pretty close to the above recommendation at least. I strongly recommend however that you check with 's doctor(s) before making any changes in his meds. Terri >From: PFlicek@... >Reply-To: Mitoonelist >To: Mitoonelist >Subject: Re: An introduction... >Date: Sat, 11 Sep 1999 19:44:41 EDT > >From: PFlicek@... > >Hi, Terri >My name is and my son has mito chondria myopathy, and he is >7years old he weighs 47 pounds and takes 200mg of the cq 10 do you think >thats a big enough dose? I'm the one who put him on it so I'm not sure if >that is enough for his weight. I break the capsule and put in his >applesauce >along with his b-50. > has been on it for 5 months with no effects but who knows if it is >working or not. Let me know what you think. > Thanks F. > >--------------------------- Quote Link to comment Share on other sites More sharing options...
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