Guest guest Posted June 30, 2005 Report Share Posted June 30, 2005 My second daughter, who was developmentally delayed with autistic tendancies as a child, is showing more problems. She's on grade level now, so most people don't even know she had a rough start as a child. She did have to have one of her heal tendons stretched by putting her leg/foot in a series of casts last fall, and has atypical asthma. Now that she's reached puberty, she's having more problems. She left competitive gymnastics two years ago. She's been dancing almost daily since then, so has continued to be active. A couple weeks ago, she decided to join a competitive cheerleading team. She's doing ok except for the tumbling runs. They do a tumbling run every couple minutes for about an hour. She's near collapse by the end of it. She can't handle heat either. I'm going to have to talk to her coach about it. I'm afraid she'll be the next one to be tested. Our pcp feels the kids shouldn't be tested unless they're symptomatic. What do others feel about that approach? She's the 2nd of 4 kids. Kim > Caitlyn, > Welcome to the group. I am a and am 28. I started having > symptoms when I was in my early teens and was diagnosed at age 18. You > are right about the heat taking a toll on the body. I know you want to > enjoy being outside, just remember to pace yourself. You have found a > great group of people here. > Smiles, > a > > On Wed, 29 Jun 2005 14:34:43 -0000 " dolphins8124 " > writes: > I am a new member. Just joined this group a couple of days ago and > thought I should introduce myself. My name is Caitlin. I am 22 years > old and from central PA. I have not officially been diagnosed with a > mito disorder but one is suspected. > I have had cyclic vomiting syndrome since I was 4 and was diagnosed > with that when I was 8. There is a Dr in California, Dr. Boles who > believes that cyclic vomiting syndrome (CVS) is mitochondrial related. > He has a study going on and I met the criteria for the first phase of > the study. There are three phases of the study and they are either on > the second or third, I can't remember. I had my COQ10 level checked and > it was below normal thus leading us to suspect even more that I have a > mito disorder. > I have always needed a lot of sleep. Even as a baby I slept a lot. I am > tired pretty much all of the time. Heat makes me even more tired. I try > to stay cool in the summer because I know if I do have mito that > extreme temperatures are pretty bad but it is hard because I love going > out in the summer. I've written a lot so I will go for now. > Caitlin > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 30, 2005 Report Share Posted June 30, 2005 My second daughter, who was developmentally delayed with autistic tendancies as a child, is showing more problems. She's on grade level now, so most people don't even know she had a rough start as a child. She did have to have one of her heal tendons stretched by putting her leg/foot in a series of casts last fall, and has atypical asthma. Now that she's reached puberty, she's having more problems. She left competitive gymnastics two years ago. She's been dancing almost daily since then, so has continued to be active. A couple weeks ago, she decided to join a competitive cheerleading team. She's doing ok except for the tumbling runs. They do a tumbling run every couple minutes for about an hour. She's near collapse by the end of it. She can't handle heat either. I'm going to have to talk to her coach about it. I'm afraid she'll be the next one to be tested. Our pcp feels the kids shouldn't be tested unless they're symptomatic. What do others feel about that approach? She's the 2nd of 4 kids. Kim > Caitlyn, > Welcome to the group. I am a and am 28. I started having > symptoms when I was in my early teens and was diagnosed at age 18. You > are right about the heat taking a toll on the body. I know you want to > enjoy being outside, just remember to pace yourself. You have found a > great group of people here. > Smiles, > a > > On Wed, 29 Jun 2005 14:34:43 -0000 " dolphins8124 " > writes: > I am a new member. Just joined this group a couple of days ago and > thought I should introduce myself. My name is Caitlin. I am 22 years > old and from central PA. I have not officially been diagnosed with a > mito disorder but one is suspected. > I have had cyclic vomiting syndrome since I was 4 and was diagnosed > with that when I was 8. There is a Dr in California, Dr. Boles who > believes that cyclic vomiting syndrome (CVS) is mitochondrial related. > He has a study going on and I met the criteria for the first phase of > the study. There are three phases of the study and they are either on > the second or third, I can't remember. I had my COQ10 level checked and > it was below normal thus leading us to suspect even more that I have a > mito disorder. > I have always needed a lot of sleep. Even as a baby I slept a lot. I am > tired pretty much all of the time. Heat makes me even more tired. I try > to stay cool in the summer because I know if I do have mito that > extreme temperatures are pretty bad but it is hard because I love going > out in the summer. I've written a lot so I will go for now. > Caitlin > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 1, 2005 Report Share Posted July 1, 2005 I can tolerate aerobic exercise (with heart rate increased well above resting), but can't tolerate walking and light exercise. Perhaps your daughter has a similar issue, as the metabolics of aerobic and " anaerobic " exercise are different. I have one son who is slightly syptomatic, but hasn't been proven to have mito disease, just " suspected " . He has had lactate and pyruvate tested, and a repeat of the newborn screening tests and chromosome abnormality tests. We don't have the genetics behind my mito issues, so he can't be tested for the specific defect. His labs so far have been mostly normal, except for some slightly elevated lactate levels that may be due to his acting up when he gets blood drawn. We decided to get him tested at our local MDA clinic, where I go, since he was at the time showing a regression (he is developmentally delayed and has autistic tendencies as well). Since then (about a year ago, when he was 3), he's shown good progress in his development, although still has hypotonia. It's a tough call, but unless she is having other issues (problems in school, breathing or heart issues), I'd say look into other sports that don't have as much " down time " and keep a close eye on possible other issues. On the other hand, if she is concerned about her health/ability to play sports/exercise, maybe you can talk to her about the pros and cons of having some tests run (my possibly affected son is only 4, so I can't discuss it with him). It is interesting you mention " atypical asthma " - both me and my older son (not the delayed one) have that diagnosis, what we were told in our cases is " temporary asthma " . It turned out my son's was caused by a severe but occult sinus infection - no fever, so they thought it was just allergies (he had gone to several doctors who missed it, including an ENT!). He was on antibiotics for about 6 weeks, and his recurrent cough and asthma symptoms subsided. The allergist who found the infection kept checking him for the cough, and made him continue antibiotics until the cough subsided. I on the other hand are still on Pulmocort and albuterol, and need some further testing to find out if the asthma has subsided. Take care, RH > > Caitlyn, > > Welcome to the group. I am a and am 28. I started > having > > symptoms when I was in my early teens and was diagnosed at age > 18. You > > are right about the heat taking a toll on the body. I know you > want to > > enjoy being outside, just remember to pace yourself. You have > found a > > great group of people here. > > Smiles, > > a > > > > On Wed, 29 Jun 2005 14:34:43 -0000 " dolphins8124 " > > writes: > > I am a new member. Just joined this group a couple of days ago and > > thought I should introduce myself. My name is Caitlin. I am 22 > years > > old and from central PA. I have not officially been diagnosed with > a > > mito disorder but one is suspected. > > I have had cyclic vomiting syndrome since I was 4 and was > diagnosed > > with that when I was 8. There is a Dr in California, Dr. Boles who > > believes that cyclic vomiting syndrome (CVS) is mitochondrial > related. > > He has a study going on and I met the criteria for the first phase > of > > the study. There are three phases of the study and they are either > on > > the second or third, I can't remember. I had my COQ10 level > checked and > > it was below normal thus leading us to suspect even more that I > have a > > mito disorder. > > I have always needed a lot of sleep. Even as a baby I slept a lot. > I am > > tired pretty much all of the time. Heat makes me even more tired. > I try > > to stay cool in the summer because I know if I do have mito that > > extreme temperatures are pretty bad but it is hard because I love > going > > out in the summer. I've written a lot so I will go for now. > > Caitlin > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 1, 2005 Report Share Posted July 1, 2005 Kim If more than one person in the extended family is affected, your daughter might be able to be diagnosed based on family history and lab results. My son who was most affected when young was diagnosed this way. He already had had a frozen biopsy which wasn't diagnostic at the same time my sister and I had ours. None of us were diagnosed with mito at that time. His MDA doctor is very comfortable with doing his diagnosis bassed on the family history and his symptoms. Of course he has known him for several years and dealt with many of the problems he has or had. He had many autistic characteristics when young and still has several. He was delayed in speech, but that was no longer a problem by age 7. It is a hard decision to make and different for each family. I think it is a very personal decision and no one of those decisions is either right or wrong. laurie > I can tolerate aerobic exercise (with heart rate increased well above > resting), but can't tolerate walking and light exercise. Perhaps > your daughter has a similar issue, as the metabolics of aerobic > and " anaerobic " exercise are different. > > I have one son who is slightly syptomatic, but hasn't been proven to > have mito disease, just " suspected " . He has had lactate and pyruvate > tested, and a repeat of the newborn screening tests and chromosome > abnormality tests. We don't have the genetics behind my mito issues, > so he can't be tested for the specific defect. His labs so far have > been mostly normal, except for some slightly elevated lactate levels > that may be due to his acting up when he gets blood drawn. > > We decided to get him tested at our local MDA clinic, where I go, > since he was at the time showing a regression (he is developmentally > delayed and has autistic tendencies as well). Since then (about a > year ago, when he was 3), he's shown good progress in his > development, although still has hypotonia. > > It's a tough call, but unless she is having other issues (problems in > school, breathing or heart issues), I'd say look into other sports > that don't have as much " down time " and keep a close eye on possible > other issues. On the other hand, if she is concerned about her > health/ability to play sports/exercise, maybe you can talk to her > about the pros and cons of having some tests run (my possibly > affected son is only 4, so I can't discuss it with him). > > It is interesting you mention " atypical asthma " - both me and my > older son (not the delayed one) have that diagnosis, what we were > told in our cases is " temporary asthma " . It turned out my son's was > caused by a severe but occult sinus infection - no fever, so they > thought it was just allergies (he had gone to several doctors who > missed it, including an ENT!). He was on antibiotics for about 6 > weeks, and his recurrent cough and asthma symptoms subsided. The > allergist who found the infection kept checking him for the cough, > and made him continue antibiotics until the cough subsided. I on the > other hand are still on Pulmocort and albuterol, and need some > further testing to find out if the asthma has subsided. > > Take care, > RH > > > > > > > Caitlyn, > > > Welcome to the group. I am a and am 28. I > started > > having > > > symptoms when I was in my early teens and was diagnosed at age > > 18. You > > > are right about the heat taking a toll on the body. I know you > > want to > > > enjoy being outside, just remember to pace yourself. You have > > found a > > > great group of people here. > > > Smiles, > > > a > > > > > > On Wed, 29 Jun 2005 14:34:43 -0000 " dolphins8124 " > > > > writes: > > > I am a new member. Just joined this group a couple of days ago > and > > > thought I should introduce myself. My name is Caitlin. I am 22 > > years > > > old and from central PA. I have not officially been diagnosed > with > > a > > > mito disorder but one is suspected. > > > I have had cyclic vomiting syndrome since I was 4 and was > > diagnosed > > > with that when I was 8. There is a Dr in California, Dr. Boles > who > > > believes that cyclic vomiting syndrome (CVS) is mitochondrial > > related. > > > He has a study going on and I met the criteria for the first > phase > > of > > > the study. There are three phases of the study and they are > either > > on > > > the second or third, I can't remember. I had my COQ10 level > > checked and > > > it was below normal thus leading us to suspect even more that I > > have a > > > mito disorder. > > > I have always needed a lot of sleep. Even as a baby I slept a > lot. > > I am > > > tired pretty much all of the time. Heat makes me even more tired. > > I try > > > to stay cool in the summer because I know if I do have mito that > > > extreme temperatures are pretty bad but it is hard because I love > > going > > > out in the summer. I've written a lot so I will go for now. > > > Caitlin > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted July 1, 2005 Report Share Posted July 1, 2005 Kim If more than one person in the extended family is affected, your daughter might be able to be diagnosed based on family history and lab results. My son who was most affected when young was diagnosed this way. He already had had a frozen biopsy which wasn't diagnostic at the same time my sister and I had ours. None of us were diagnosed with mito at that time. His MDA doctor is very comfortable with doing his diagnosis bassed on the family history and his symptoms. Of course he has known him for several years and dealt with many of the problems he has or had. He had many autistic characteristics when young and still has several. He was delayed in speech, but that was no longer a problem by age 7. It is a hard decision to make and different for each family. I think it is a very personal decision and no one of those decisions is either right or wrong. laurie > I can tolerate aerobic exercise (with heart rate increased well above > resting), but can't tolerate walking and light exercise. Perhaps > your daughter has a similar issue, as the metabolics of aerobic > and " anaerobic " exercise are different. > > I have one son who is slightly syptomatic, but hasn't been proven to > have mito disease, just " suspected " . He has had lactate and pyruvate > tested, and a repeat of the newborn screening tests and chromosome > abnormality tests. We don't have the genetics behind my mito issues, > so he can't be tested for the specific defect. His labs so far have > been mostly normal, except for some slightly elevated lactate levels > that may be due to his acting up when he gets blood drawn. > > We decided to get him tested at our local MDA clinic, where I go, > since he was at the time showing a regression (he is developmentally > delayed and has autistic tendencies as well). Since then (about a > year ago, when he was 3), he's shown good progress in his > development, although still has hypotonia. > > It's a tough call, but unless she is having other issues (problems in > school, breathing or heart issues), I'd say look into other sports > that don't have as much " down time " and keep a close eye on possible > other issues. On the other hand, if she is concerned about her > health/ability to play sports/exercise, maybe you can talk to her > about the pros and cons of having some tests run (my possibly > affected son is only 4, so I can't discuss it with him). > > It is interesting you mention " atypical asthma " - both me and my > older son (not the delayed one) have that diagnosis, what we were > told in our cases is " temporary asthma " . It turned out my son's was > caused by a severe but occult sinus infection - no fever, so they > thought it was just allergies (he had gone to several doctors who > missed it, including an ENT!). He was on antibiotics for about 6 > weeks, and his recurrent cough and asthma symptoms subsided. The > allergist who found the infection kept checking him for the cough, > and made him continue antibiotics until the cough subsided. I on the > other hand are still on Pulmocort and albuterol, and need some > further testing to find out if the asthma has subsided. > > Take care, > RH > > > > > > > Caitlyn, > > > Welcome to the group. I am a and am 28. I > started > > having > > > symptoms when I was in my early teens and was diagnosed at age > > 18. You > > > are right about the heat taking a toll on the body. I know you > > want to > > > enjoy being outside, just remember to pace yourself. You have > > found a > > > great group of people here. > > > Smiles, > > > a > > > > > > On Wed, 29 Jun 2005 14:34:43 -0000 " dolphins8124 " > > > > writes: > > > I am a new member. Just joined this group a couple of days ago > and > > > thought I should introduce myself. My name is Caitlin. I am 22 > > years > > > old and from central PA. I have not officially been diagnosed > with > > a > > > mito disorder but one is suspected. > > > I have had cyclic vomiting syndrome since I was 4 and was > > diagnosed > > > with that when I was 8. There is a Dr in California, Dr. Boles > who > > > believes that cyclic vomiting syndrome (CVS) is mitochondrial > > related. > > > He has a study going on and I met the criteria for the first > phase > > of > > > the study. There are three phases of the study and they are > either > > on > > > the second or third, I can't remember. I had my COQ10 level > > checked and > > > it was below normal thus leading us to suspect even more that I > > have a > > > mito disorder. > > > I have always needed a lot of sleep. Even as a baby I slept a > lot. > > I am > > > tired pretty much all of the time. Heat makes me even more tired. > > I try > > > to stay cool in the summer because I know if I do have mito that > > > extreme temperatures are pretty bad but it is hard because I love > > going > > > out in the summer. I've written a lot so I will go for now. > > > Caitlin > > > > > > Quote Link to comment Share on other sites More sharing options...
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