Guest guest Posted August 9, 2010 Report Share Posted August 9, 2010 My 3 boys are all diagnosed with Mito, complex I deficiency and have an immune deficiency secondary to the Mito. From what we have been told, their immune issues can fluctuate depending on the energy demands to the body. In a Mito crash, they will not show the immune response they would on a day where they are doing well just due to the difference in energy requirements to their body. My kids all have low Ig levels and do not retain vax titers to certain vaxes (mostly pneumococcal). They show initial response, but lose it over time.my middle son however, showed no response to the pneumovax the last time he received it because his body was so run down from repeated back-to-back illness that he did not have the energy to mount any response at all to the vax. We were told that this is because it requires more energy than they have to spare on any given day to keep Ig levels where they should be and remember all the vaxes they were given. It is why they get sick so often and take so long to get over illnesses.the energy is just not there to fight it off like they should be able to. My oldest is in a really good run of health right now and has been able to avoid IVIG thus far, and his labs are looking better than they have in years.still low, but better than before. My middle son was started on IVIG after 100 days on abx, flu, coxsackie, a gi bug that landed him inpatient, and some other illnesses all in a 6 month time frame and then not responding to the pneumovax. He was just so sick for so long, his body never had a chance to recover from one before getting hit with the next and his baseline just kept slipping lower and lower until we had no choice but to put him on IVIG to break the illness cycle. Due to insurance glitches and my husband losing his job, we stopped IVIG back in Jan for financial reasons and he has done remarkably well off treatment, so we have decided to leave him off for the time being, check labs since he has been off for long enough for the labs to show a picture of his true immune function at this time, and hope for the best when he starts kindergarten in a few weeks. We will go back on if need be. The baby has all the same issues, but seems to be holding his own for now and we are just keeping tabs on him also. We see Dr Koenig in Houston as well and also see her immuno in the Mito clinic. They are studying the effects of mitochondrial disease on the immune system and we are participating in a study there. They are discovering that many children with Mito also have some form of secondary immune deficiency and many show similarities in presentation. We are also participating in a study that looks at how Mito affects GI tract motility and they are discovering that many mito patients suffer from slow GI motility as well. Hope this helps! Melody, mom to 3 little boys with Mito complex I From: [mailto: ] On Behalf Of stacy171 Sent: Sunday, August 08, 2010 1:23 PM Subject: mito & PID families Hi, I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? Just curious - my son's being evaluated for both PID and mito. Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2010 Report Share Posted August 9, 2010 I am curious as to how you can determine a child has mito also (or ID because of mito)? My 8 yo son is recently diagnosed with CVID this year (low IgG--IgG1 and IgG3 too--and IgM), but also has autism, low muscle tone apraxia, asthma, food allergies, poor growth and reflux. For example, he has problems with grip strength, requiring hand-over-hand and frequent rests between in order to hold a pencil. He has always had grasp issues. Actually using his hands (to turn on a lever faucet) has improved some with OT, but he can't open bottles or twist knobs easily. He also has poor shoulder girdle strength, so it is easier for him to work below him (with gravity), or on a table with arm support, but cannot easily work on a chalkboard or computer screen for example (which would require him to raise his arm in a precise manner--he can throw it up there, but not with control). He also has laxity of his joints, so is double- and triple-jointed. I just wanted to give examples of his motor weakness issues as reference. Therapists and doctors have always just indicated that these muscle issues are common in autism. Over the past almost 2 years, he has been noticeably declining, with weight loss, intermittently severe muscle cramps and pain in his legs, fatigues easily, and can't walk too far, maybe 2-3 blocks slowly? (we just bought a bigger stroller so that he can do trips with us), worsening reflux=type symptoms (but negative scope). He always gets very frequent GI and respiratory viral infection (with asthma flares), but now less frequent skin and respiratory bacterial infections on Immune Globulin. We have been very lucky in the infection department, after hearing your stories...I have homeschooled him all along, as he has always gotten sick anywhere he went (did speech therapy and OT at home, too, whenever we could). So how does one say that it might be mito? I have already been concerned that he needs a neurology check to look into the hypotonia again (the developmental pedi diagnosed him as central nervous system dysfunction and autism, which I think the first is just a " catch-all " diagnosis), but the neuro I have used in this area with another child is not taking new patients...so I will have to search for another doctor. The pedi and developmental pedi he had when he was an infant/toddler were concerned enough to run all the metabolic testing they could think of, which was all negative. He had initial FISH/DNA testing in 2005, looking for genetic syndromes that could cause autism--all normal, too. You know how it is, I always have to make sure that I have investigated all possibilities How does one decide to check into mito, as I am sure one can have separate illnesses, too? Are there other tests, or more updated tests that might be beneficial? any advice? Thanks, I know this is a long post. Before I say most of the past two years is mostly from CVID, I want to make sure we aren't missing anything. Mindy, in Virginia > Hi, as a toddler, my son had good initial response to pneumovax at 1 month, then at 6 months, dropped to pre-vaccine titers (all mostly zero) This was repeated for years, getting two pnemovax a year. > Diagnosed with PI now, he has subclass deficiency IgG3, C3 complement deficiency, low IgG, IgM, low NK cells and B and T lymphocyte > abnormalities.....He gets IVIG every 2 weeks....he also has a bone marrow > failure syndrome....chronic neutropenia, (occas severe) low bone marrow cellularity...he gets Granulocyte Colony Stimulating Factor (Neupogen) injections every Mon Wed Fri. > He also has been diagnosed with Mitochondrial disorder....the mito specialist in Houston says he had Pearson's syndrome as an infant, survived that (thankfully!) and now has Kearns Sayre > syndrome/Ophthalmoplegia...she said it's on the same spectrum. So she said > he has Mitochondrial Myopathy and Cytopathy, and they are related.....This > came as a shock, he's having some muscle deterioration which is > scary......but it seems like we have the immunity and Bone marrow problems > under control for now with the IVIG and the Neupogen. > Does your son have the proximal muscle weakness and the immunity problems > too? > It was my son's hematologist at Cincinnati Children's who insisted on further investigation for the mito disorder. I'm glad he did, because now > I know more of the whole picture. I used to think that mito disorders mainly just involved muscles....now I know the immune system is affected greatly too. > Keep us updated on what they find with your child. hugs, Sue > > From: stacy171 <stacy171@...> > Subject: mito & PID families > > Date: Sunday, August 8, 2010, 6:22 PM >  > Hi, > I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? > Just curious - my son's being evaluated for both PID and mito. > Thanks, > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2010 Report Share Posted August 9, 2010 I am curious as to how you can determine a child has mito also (or ID because of mito)? My 8 yo son is recently diagnosed with CVID this year (low IgG--IgG1 and IgG3 too--and IgM), but also has autism, low muscle tone apraxia, asthma, food allergies, poor growth and reflux. For example, he has problems with grip strength, requiring hand-over-hand and frequent rests between in order to hold a pencil. He has always had grasp issues. Actually using his hands (to turn on a lever faucet) has improved some with OT, but he can't open bottles or twist knobs easily. He also has poor shoulder girdle strength, so it is easier for him to work below him (with gravity), or on a table with arm support, but cannot easily work on a chalkboard or computer screen for example (which would require him to raise his arm in a precise manner--he can throw it up there, but not with control). He also has laxity of his joints, so is double- and triple-jointed. I just wanted to give examples of his motor weakness issues as reference. Therapists and doctors have always just indicated that these muscle issues are common in autism. Over the past almost 2 years, he has been noticeably declining, with weight loss, intermittently severe muscle cramps and pain in his legs, fatigues easily, and can't walk too far, maybe 2-3 blocks slowly? (we just bought a bigger stroller so that he can do trips with us), worsening reflux=type symptoms (but negative scope). He always gets very frequent GI and respiratory viral infection (with asthma flares), but now less frequent skin and respiratory bacterial infections on Immune Globulin. We have been very lucky in the infection department, after hearing your stories...I have homeschooled him all along, as he has always gotten sick anywhere he went (did speech therapy and OT at home, too, whenever we could). So how does one say that it might be mito? I have already been concerned that he needs a neurology check to look into the hypotonia again (the developmental pedi diagnosed him as central nervous system dysfunction and autism, which I think the first is just a " catch-all " diagnosis), but the neuro I have used in this area with another child is not taking new patients...so I will have to search for another doctor. The pedi and developmental pedi he had when he was an infant/toddler were concerned enough to run all the metabolic testing they could think of, which was all negative. He had initial FISH/DNA testing in 2005, looking for genetic syndromes that could cause autism--all normal, too. You know how it is, I always have to make sure that I have investigated all possibilities How does one decide to check into mito, as I am sure one can have separate illnesses, too? Are there other tests, or more updated tests that might be beneficial? any advice? Thanks, I know this is a long post. Before I say most of the past two years is mostly from CVID, I want to make sure we aren't missing anything. Mindy, in Virginia > Hi, as a toddler, my son had good initial response to pneumovax at 1 month, then at 6 months, dropped to pre-vaccine titers (all mostly zero) This was repeated for years, getting two pnemovax a year. > Diagnosed with PI now, he has subclass deficiency IgG3, C3 complement deficiency, low IgG, IgM, low NK cells and B and T lymphocyte > abnormalities.....He gets IVIG every 2 weeks....he also has a bone marrow > failure syndrome....chronic neutropenia, (occas severe) low bone marrow cellularity...he gets Granulocyte Colony Stimulating Factor (Neupogen) injections every Mon Wed Fri. > He also has been diagnosed with Mitochondrial disorder....the mito specialist in Houston says he had Pearson's syndrome as an infant, survived that (thankfully!) and now has Kearns Sayre > syndrome/Ophthalmoplegia...she said it's on the same spectrum. So she said > he has Mitochondrial Myopathy and Cytopathy, and they are related.....This > came as a shock, he's having some muscle deterioration which is > scary......but it seems like we have the immunity and Bone marrow problems > under control for now with the IVIG and the Neupogen. > Does your son have the proximal muscle weakness and the immunity problems > too? > It was my son's hematologist at Cincinnati Children's who insisted on further investigation for the mito disorder. I'm glad he did, because now > I know more of the whole picture. I used to think that mito disorders mainly just involved muscles....now I know the immune system is affected greatly too. > Keep us updated on what they find with your child. hugs, Sue > > From: stacy171 <stacy171@...> > Subject: mito & PID families > > Date: Sunday, August 8, 2010, 6:22 PM >  > Hi, > I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? > Just curious - my son's being evaluated for both PID and mito. > Thanks, > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2010 Report Share Posted August 9, 2010 There is some bloodwork that can look for mito markers, of sorts, but I think you should start by seeing the neuro again. There have been a lot of studies recently linking autism and mito and with his muscle symptoms, that would certainly be a red flag. For us, it was the constellation of symptoms (far more than immune stuff, mainly metabolic abnormalities) that got our doctor’s to think about mito. We eventually got the diagnosis from a muscle biopsy, fortunately, because there are a lot of false negatives on biopsies. Genetic testing is generally a first step, looking at mitochondrial DNA abnormalities but that only catches about 10% of mito. Sounds like your son would benefit from seeing a mito specialist. I don’t know where in Virginia you are and where the closest mito clinic to you might be – probably either Boston, Cleveland Clinic, or Atlanta depending on where you are. Mitochondrial disease presents itself in so many different ways that there is no “one thing” that EVERYONE has that you can say, “check this and you’ll get your answer” which is why it’s so important to see a doctor that specializes in mitochondrial diseases if you can swing it. There really is a big difference between a regular neuro or geneticist and one that has seen lots of mito patients. Good luck! Mom of 4, 3 with Complex I mito with secondary immune deficiency From: [mailto: ] On Behalf Of mindy@... Sent: Monday, August 09, 2010 2:15 PM Subject: Re: mito & PID families I am curious as to how you can determine a child has mito also (or ID because of mito)? My 8 yo son is recently diagnosed with CVID this year (low IgG--IgG1 and IgG3 too--and IgM), but also has autism, low muscle tone apraxia, asthma, food allergies, poor growth and reflux. For example, he has problems with grip strength, requiring hand-over-hand and frequent rests between in order to hold a pencil. He has always had grasp issues. Actually using his hands (to turn on a lever faucet) has improved some with OT, but he can't open bottles or twist knobs easily. He also has poor shoulder girdle strength, so it is easier for him to work below him (with gravity), or on a table with arm support, but cannot easily work on a chalkboard or computer screen for example (which would require him to raise his arm in a precise manner--he can throw it up there, but not with control). He also has laxity of his joints, so is double- and triple-jointed. I just wanted to give examples of his motor weakness issues as reference. Therapists and doctors have always just indicated that these muscle issues are common in autism. Over the past almost 2 years, he has been noticeably declining, with weight loss, intermittently severe muscle cramps and pain in his legs, fatigues easily, and can't walk too far, maybe 2-3 blocks slowly? (we just bought a bigger stroller so that he can do trips with us), worsening reflux=type symptoms (but negative scope). He always gets very frequent GI and respiratory viral infection (with asthma flares), but now less frequent skin and respiratory bacterial infections on Immune Globulin. We have been very lucky in the infection department, after hearing your stories...I have homeschooled him all along, as he has always gotten sick anywhere he went (did speech therapy and OT at home, too, whenever we could). So how does one say that it might be mito? I have already been concerned that he needs a neurology check to look into the hypotonia again (the developmental pedi diagnosed him as central nervous system dysfunction and autism, which I think the first is just a " catch-all " diagnosis), but the neuro I have used in this area with another child is not taking new patients...so I will have to search for another doctor. The pedi and developmental pedi he had when he was an infant/toddler were concerned enough to run all the metabolic testing they could think of, which was all negative. He had initial FISH/DNA testing in 2005, looking for genetic syndromes that could cause autism--all normal, too. You know how it is, I always have to make sure that I have investigated all possibilities How does one decide to check into mito, as I am sure one can have separate illnesses, too? Are there other tests, or more updated tests that might be beneficial? any advice? Thanks, I know this is a long post. Before I say most of the past two years is mostly from CVID, I want to make sure we aren't missing anything. Mindy, in Virginia > Hi, as a toddler, my son had good initial response to pneumovax at 1 month, then at 6 months, dropped to pre-vaccine titers (all mostly zero) This was repeated for years, getting two pnemovax a year. > Diagnosed with PI now, he has subclass deficiency IgG3, C3 complement deficiency, low IgG, IgM, low NK cells and B and T lymphocyte > abnormalities.....He gets IVIG every 2 weeks....he also has a bone marrow > failure syndrome....chronic neutropenia, (occas severe) low bone marrow cellularity...he gets Granulocyte Colony Stimulating Factor (Neupogen) injections every Mon Wed Fri. > He also has been diagnosed with Mitochondrial disorder....the mito specialist in Houston says he had Pearson's syndrome as an infant, survived that (thankfully!) and now has Kearns Sayre > syndrome/Ophthalmoplegia...she said it's on the same spectrum. So she said > he has Mitochondrial Myopathy and Cytopathy, and they are related.....This > came as a shock, he's having some muscle deterioration which is > scary......but it seems like we have the immunity and Bone marrow problems > under control for now with the IVIG and the Neupogen. > Does your son have the proximal muscle weakness and the immunity problems > too? > It was my son's hematologist at Cincinnati Children's who insisted on further investigation for the mito disorder. I'm glad he did, because now > I know more of the whole picture. I used to think that mito disorders mainly just involved muscles....now I know the immune system is affected greatly too. > Keep us updated on what they find with your child. hugs, Sue > > From: stacy171 <stacy171@... <mailto:stacy171%40> > > Subject: mito & PID families > <mailto:%40> > Date: Sunday, August 8, 2010, 6:22 PM >  > Hi, > I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? > Just curious - my son's being evaluated for both PID and mito. > Thanks, > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2010 Report Share Posted August 9, 2010 There is some bloodwork that can look for mito markers, of sorts, but I think you should start by seeing the neuro again. There have been a lot of studies recently linking autism and mito and with his muscle symptoms, that would certainly be a red flag. For us, it was the constellation of symptoms (far more than immune stuff, mainly metabolic abnormalities) that got our doctor’s to think about mito. We eventually got the diagnosis from a muscle biopsy, fortunately, because there are a lot of false negatives on biopsies. Genetic testing is generally a first step, looking at mitochondrial DNA abnormalities but that only catches about 10% of mito. Sounds like your son would benefit from seeing a mito specialist. I don’t know where in Virginia you are and where the closest mito clinic to you might be – probably either Boston, Cleveland Clinic, or Atlanta depending on where you are. Mitochondrial disease presents itself in so many different ways that there is no “one thing” that EVERYONE has that you can say, “check this and you’ll get your answer” which is why it’s so important to see a doctor that specializes in mitochondrial diseases if you can swing it. There really is a big difference between a regular neuro or geneticist and one that has seen lots of mito patients. Good luck! Mom of 4, 3 with Complex I mito with secondary immune deficiency From: [mailto: ] On Behalf Of mindy@... Sent: Monday, August 09, 2010 2:15 PM Subject: Re: mito & PID families I am curious as to how you can determine a child has mito also (or ID because of mito)? My 8 yo son is recently diagnosed with CVID this year (low IgG--IgG1 and IgG3 too--and IgM), but also has autism, low muscle tone apraxia, asthma, food allergies, poor growth and reflux. For example, he has problems with grip strength, requiring hand-over-hand and frequent rests between in order to hold a pencil. He has always had grasp issues. Actually using his hands (to turn on a lever faucet) has improved some with OT, but he can't open bottles or twist knobs easily. He also has poor shoulder girdle strength, so it is easier for him to work below him (with gravity), or on a table with arm support, but cannot easily work on a chalkboard or computer screen for example (which would require him to raise his arm in a precise manner--he can throw it up there, but not with control). He also has laxity of his joints, so is double- and triple-jointed. I just wanted to give examples of his motor weakness issues as reference. Therapists and doctors have always just indicated that these muscle issues are common in autism. Over the past almost 2 years, he has been noticeably declining, with weight loss, intermittently severe muscle cramps and pain in his legs, fatigues easily, and can't walk too far, maybe 2-3 blocks slowly? (we just bought a bigger stroller so that he can do trips with us), worsening reflux=type symptoms (but negative scope). He always gets very frequent GI and respiratory viral infection (with asthma flares), but now less frequent skin and respiratory bacterial infections on Immune Globulin. We have been very lucky in the infection department, after hearing your stories...I have homeschooled him all along, as he has always gotten sick anywhere he went (did speech therapy and OT at home, too, whenever we could). So how does one say that it might be mito? I have already been concerned that he needs a neurology check to look into the hypotonia again (the developmental pedi diagnosed him as central nervous system dysfunction and autism, which I think the first is just a " catch-all " diagnosis), but the neuro I have used in this area with another child is not taking new patients...so I will have to search for another doctor. The pedi and developmental pedi he had when he was an infant/toddler were concerned enough to run all the metabolic testing they could think of, which was all negative. He had initial FISH/DNA testing in 2005, looking for genetic syndromes that could cause autism--all normal, too. You know how it is, I always have to make sure that I have investigated all possibilities How does one decide to check into mito, as I am sure one can have separate illnesses, too? Are there other tests, or more updated tests that might be beneficial? any advice? Thanks, I know this is a long post. Before I say most of the past two years is mostly from CVID, I want to make sure we aren't missing anything. Mindy, in Virginia > Hi, as a toddler, my son had good initial response to pneumovax at 1 month, then at 6 months, dropped to pre-vaccine titers (all mostly zero) This was repeated for years, getting two pnemovax a year. > Diagnosed with PI now, he has subclass deficiency IgG3, C3 complement deficiency, low IgG, IgM, low NK cells and B and T lymphocyte > abnormalities.....He gets IVIG every 2 weeks....he also has a bone marrow > failure syndrome....chronic neutropenia, (occas severe) low bone marrow cellularity...he gets Granulocyte Colony Stimulating Factor (Neupogen) injections every Mon Wed Fri. > He also has been diagnosed with Mitochondrial disorder....the mito specialist in Houston says he had Pearson's syndrome as an infant, survived that (thankfully!) and now has Kearns Sayre > syndrome/Ophthalmoplegia...she said it's on the same spectrum. So she said > he has Mitochondrial Myopathy and Cytopathy, and they are related.....This > came as a shock, he's having some muscle deterioration which is > scary......but it seems like we have the immunity and Bone marrow problems > under control for now with the IVIG and the Neupogen. > Does your son have the proximal muscle weakness and the immunity problems > too? > It was my son's hematologist at Cincinnati Children's who insisted on further investigation for the mito disorder. I'm glad he did, because now > I know more of the whole picture. I used to think that mito disorders mainly just involved muscles....now I know the immune system is affected greatly too. > Keep us updated on what they find with your child. hugs, Sue > > From: stacy171 <stacy171@... <mailto:stacy171%40> > > Subject: mito & PID families > <mailto:%40> > Date: Sunday, August 8, 2010, 6:22 PM >  > Hi, > I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? > Just curious - my son's being evaluated for both PID and mito. > Thanks, > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2010 Report Share Posted August 9, 2010 We just a call today from the immunologist who said my daughter needs to have her shots again or at least boosters. HOWEVER, the problem is that she is on an immunosuppressant so the shots probably would not " take " if she had them redone. She JUST started the immunosuppressant so now we have to reevaluate on what to do. The original plan was to have her revaccinated and then test the titers again to see if they have come up. Now.... not a possibility. So no idea what they will do! Doing that would have told if my daughter needed the IVIG or not. So who knows?  My daughter has the very slow GI motility.  So has anyone here with mito kids had the buccal swab done? ________________________________ From: Doug & Melody Pohla <pohlarbearpack@...> Sent: Mon, August 9, 2010 12:38:32 PM Subject: RE: mito & PID families  My 3 boys are all diagnosed with Mito, complex I deficiency and have an immune deficiency secondary to the Mito. From what we have been told, their immune issues can fluctuate depending on the energy demands to the body. In a Mito crash, they will not show the immune response they would on a day where they are doing well just due to the difference in energy requirements to their body. My kids all have low Ig levels and do not retain vax titers to certain vaxes (mostly pneumococcal). They show initial response, but lose it over time.my middle son however, showed no response to the pneumovax the last time he received it because his body was so run down from repeated back-to-back illness that he did not have the energy to mount any response at all to the vax. We were told that this is because it requires more energy than they have to spare on any given day to keep Ig levels where they should be and remember all the vaxes they were given. It is why they get sick so often and take so long to get over illnesses.the energy is just not there to fight it off like they should be able to. My oldest is in a really good run of health right now and has been able to avoid IVIG thus far, and his labs are looking better than they have in years.still low, but better than before. My middle son was started on IVIG after 100 days on abx, flu, coxsackie, a gi bug that landed him inpatient, and some other illnesses all in a 6 month time frame and then not responding to the pneumovax. He was just so sick for so long, his body never had a chance to recover from one before getting hit with the next and his baseline just kept slipping lower and lower until we had no choice but to put him on IVIG to break the illness cycle. Due to insurance glitches and my husband losing his job, we stopped IVIG back in Jan for financial reasons and he has done remarkably well off treatment, so we have decided to leave him off for the time being, check labs since he has been off for long enough for the labs to show a picture of his true immune function at this time, and hope for the best when he starts kindergarten in a few weeks. We will go back on if need be. The baby has all the same issues, but seems to be holding his own for now and we are just keeping tabs on him also. We see Dr Koenig in Houston as well and also see her immuno in the Mito clinic. They are studying the effects of mitochondrial disease on the immune system and we are participating in a study there. They are discovering that many children with Mito also have some form of secondary immune deficiency and many show similarities in presentation. We are also participating in a study that looks at how Mito affects GI tract motility and they are discovering that many mito patients suffer from slow GI motility as well. Hope this helps! Melody, mom to 3 little boys with Mito complex I From: [mailto: ] On Behalf Of stacy171 Sent: Sunday, August 08, 2010 1:23 PM Subject: mito & PID families Hi, I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? Just curious - my son's being evaluated for both PID and mito. Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2010 Report Share Posted August 9, 2010 We just a call today from the immunologist who said my daughter needs to have her shots again or at least boosters. HOWEVER, the problem is that she is on an immunosuppressant so the shots probably would not " take " if she had them redone. She JUST started the immunosuppressant so now we have to reevaluate on what to do. The original plan was to have her revaccinated and then test the titers again to see if they have come up. Now.... not a possibility. So no idea what they will do! Doing that would have told if my daughter needed the IVIG or not. So who knows?  My daughter has the very slow GI motility.  So has anyone here with mito kids had the buccal swab done? ________________________________ From: Doug & Melody Pohla <pohlarbearpack@...> Sent: Mon, August 9, 2010 12:38:32 PM Subject: RE: mito & PID families  My 3 boys are all diagnosed with Mito, complex I deficiency and have an immune deficiency secondary to the Mito. From what we have been told, their immune issues can fluctuate depending on the energy demands to the body. In a Mito crash, they will not show the immune response they would on a day where they are doing well just due to the difference in energy requirements to their body. My kids all have low Ig levels and do not retain vax titers to certain vaxes (mostly pneumococcal). They show initial response, but lose it over time.my middle son however, showed no response to the pneumovax the last time he received it because his body was so run down from repeated back-to-back illness that he did not have the energy to mount any response at all to the vax. We were told that this is because it requires more energy than they have to spare on any given day to keep Ig levels where they should be and remember all the vaxes they were given. It is why they get sick so often and take so long to get over illnesses.the energy is just not there to fight it off like they should be able to. My oldest is in a really good run of health right now and has been able to avoid IVIG thus far, and his labs are looking better than they have in years.still low, but better than before. My middle son was started on IVIG after 100 days on abx, flu, coxsackie, a gi bug that landed him inpatient, and some other illnesses all in a 6 month time frame and then not responding to the pneumovax. He was just so sick for so long, his body never had a chance to recover from one before getting hit with the next and his baseline just kept slipping lower and lower until we had no choice but to put him on IVIG to break the illness cycle. Due to insurance glitches and my husband losing his job, we stopped IVIG back in Jan for financial reasons and he has done remarkably well off treatment, so we have decided to leave him off for the time being, check labs since he has been off for long enough for the labs to show a picture of his true immune function at this time, and hope for the best when he starts kindergarten in a few weeks. We will go back on if need be. The baby has all the same issues, but seems to be holding his own for now and we are just keeping tabs on him also. We see Dr Koenig in Houston as well and also see her immuno in the Mito clinic. They are studying the effects of mitochondrial disease on the immune system and we are participating in a study there. They are discovering that many children with Mito also have some form of secondary immune deficiency and many show similarities in presentation. We are also participating in a study that looks at how Mito affects GI tract motility and they are discovering that many mito patients suffer from slow GI motility as well. Hope this helps! Melody, mom to 3 little boys with Mito complex I From: [mailto: ] On Behalf Of stacy171 Sent: Sunday, August 08, 2010 1:23 PM Subject: mito & PID families Hi, I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? Just curious - my son's being evaluated for both PID and mito. Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2010 Report Share Posted August 9, 2010 We were told that my daughter has PID as a secondary. Basically that the energy in her body is not enough to run her immune system properly which causes hypogammaglobulenemia which is a type of PID or that is how it is classified at least. When she has more energy problems, then her PID gets worse. That is how it was explained to me at least! I have heard mixed reviews on Dr Koenig. Who all likes her? just wondering good and bad on her...  ________________________________ From: Hobbs <hobbsfamily@...> Sent: Mon, August 9, 2010 12:14:21 PM Subject: RE: mito & PID families  My kids have mito and immune issues. They are diagnosed with complex I mitochondrial myopathy based on a muscle biopsy on – it’s extended to siblings when there is evidence of disease, which in our case is true of his younger sisters. , especially, presented with immune issues first at about a year and a half and began immunology testing at age 2. He had low IgG (total and subclasses) and pneumococcal antibody deficiency. He has been on IVIG for 5 years (and is 8 tomorrow). Meredith was monitored closely because of and didn’t see a drop in her IgG below the normal range until about age 2 as well. She also doesn’t retain pneumococcal titers very well. Needless to say, we are monitoring Madison (who is 1) to see what she does. As a matter of wording, if your immune issues are a result of mito, you do not have a PID since PID is a PRIMARY diagnosis. Just to clarify. The kids are followed at the mito clinic at Riley Children’s in Indianapolis but we were referred to Dr. Shoffner in Atlanta for biopsy and were able to get a definitive based on that. With our upcoming move to NC, we are transferring their mito care to Dr. Koenig in Houston since they have an immunologist that sees patients in the mito clinic and they are currently doing research looking at the relationship between mito and the immune system – it seemed like a good fit for us! Mom to 4 kids, 3 with mito causing immune deficiencies From: [mailto: ] On Behalf Of Sent: Monday, August 09, 2010 8:59 AM Subject: Re: mito & PID families Thank you for your story - it sounds like you & your son have had a long road. My son has chronic diarrhea, low immunoglobins (but normal antibody response so far), fatigue, elevated liver enzymes, and subclinical seizures. I put 2 and 2 together and I wanted him evaluated for mito. Not an easy task and I work in the field! Wowsers. I didn't think it would be that difficult. There's a lot more that needs to be known about mito and most doctors are uncomfortable with it. Kind of like PID! Does your son do mito cocktail supplements too? My son will have a colonoscopy soon and repeating the titers in a couple of months. I dragged my feet on the colonoscopy due to the anesthesia issues but I'm not sure we can avoid it any longer. ________________________________ From: Sue Bordelon <sudubo@... <mailto:sudubo%40> > <mailto:%40> Sent: Sun, August 8, 2010 3:44:25 PM Subject: Re: mito & PID families Hi, as a toddler, my son had good initial response to pneumovax at 1 month, then at 6 months, dropped to pre-vaccine titers (all mostly zero) This was repeated for years, getting two pnemovax a year. Diagnosed with PI now, he has subclass deficiency IgG3, C3 complement deficiency, low IgG, IgM, low NK cells and B and T lymphocyte abnormalities.....He gets IVIG every 2 weeks....he also has a bone marrow failure syndrome....chronic neutropenia, (occas severe) low bone marrow cellularity...he gets Granulocyte Colony Stimulating Factor (Neupogen) injections every Mon Wed Fri. He also has been diagnosed with Mitochondrial disorder....the mito specialist in Houston says he had Pearson's syndrome as an infant, survived that (thankfully!) and now has Kearns Sayre syndrome/Ophthalmoplegia...she said it's on the same spectrum. So she said he has Mitochondrial Myopathy and Cytopathy, and they are related.....This came as a shock, he's having some muscle deterioration which is scary......but it seems like we have the immunity and Bone marrow problems under control for now with the IVIG and the Neupogen. Does your son have the proximal muscle weakness and the immunity problems too? It was my son's hematologist at Cincinnati Children's who insisted on further investigation for the mito disorder. I'm glad he did, because now I know more of the whole picture. I used to think that mito disorders mainly just involved muscles....now I know the immune system is affected greatly too. Keep us updated on what they find with your child. hugs, Sue From: stacy171 <stacy171@... <mailto:stacy171%40> > Subject: mito & PID families <mailto:%40> Date: Sunday, August 8, 2010, 6:22 PM Hi, I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? Just curious - my son's being evaluated for both PID and mito. Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2010 Report Share Posted August 9, 2010 We were told that my daughter has PID as a secondary. Basically that the energy in her body is not enough to run her immune system properly which causes hypogammaglobulenemia which is a type of PID or that is how it is classified at least. When she has more energy problems, then her PID gets worse. That is how it was explained to me at least! I have heard mixed reviews on Dr Koenig. Who all likes her? just wondering good and bad on her...  ________________________________ From: Hobbs <hobbsfamily@...> Sent: Mon, August 9, 2010 12:14:21 PM Subject: RE: mito & PID families  My kids have mito and immune issues. They are diagnosed with complex I mitochondrial myopathy based on a muscle biopsy on – it’s extended to siblings when there is evidence of disease, which in our case is true of his younger sisters. , especially, presented with immune issues first at about a year and a half and began immunology testing at age 2. He had low IgG (total and subclasses) and pneumococcal antibody deficiency. He has been on IVIG for 5 years (and is 8 tomorrow). Meredith was monitored closely because of and didn’t see a drop in her IgG below the normal range until about age 2 as well. She also doesn’t retain pneumococcal titers very well. Needless to say, we are monitoring Madison (who is 1) to see what she does. As a matter of wording, if your immune issues are a result of mito, you do not have a PID since PID is a PRIMARY diagnosis. Just to clarify. The kids are followed at the mito clinic at Riley Children’s in Indianapolis but we were referred to Dr. Shoffner in Atlanta for biopsy and were able to get a definitive based on that. With our upcoming move to NC, we are transferring their mito care to Dr. Koenig in Houston since they have an immunologist that sees patients in the mito clinic and they are currently doing research looking at the relationship between mito and the immune system – it seemed like a good fit for us! Mom to 4 kids, 3 with mito causing immune deficiencies From: [mailto: ] On Behalf Of Sent: Monday, August 09, 2010 8:59 AM Subject: Re: mito & PID families Thank you for your story - it sounds like you & your son have had a long road. My son has chronic diarrhea, low immunoglobins (but normal antibody response so far), fatigue, elevated liver enzymes, and subclinical seizures. I put 2 and 2 together and I wanted him evaluated for mito. Not an easy task and I work in the field! Wowsers. I didn't think it would be that difficult. There's a lot more that needs to be known about mito and most doctors are uncomfortable with it. Kind of like PID! Does your son do mito cocktail supplements too? My son will have a colonoscopy soon and repeating the titers in a couple of months. I dragged my feet on the colonoscopy due to the anesthesia issues but I'm not sure we can avoid it any longer. ________________________________ From: Sue Bordelon <sudubo@... <mailto:sudubo%40> > <mailto:%40> Sent: Sun, August 8, 2010 3:44:25 PM Subject: Re: mito & PID families Hi, as a toddler, my son had good initial response to pneumovax at 1 month, then at 6 months, dropped to pre-vaccine titers (all mostly zero) This was repeated for years, getting two pnemovax a year. Diagnosed with PI now, he has subclass deficiency IgG3, C3 complement deficiency, low IgG, IgM, low NK cells and B and T lymphocyte abnormalities.....He gets IVIG every 2 weeks....he also has a bone marrow failure syndrome....chronic neutropenia, (occas severe) low bone marrow cellularity...he gets Granulocyte Colony Stimulating Factor (Neupogen) injections every Mon Wed Fri. He also has been diagnosed with Mitochondrial disorder....the mito specialist in Houston says he had Pearson's syndrome as an infant, survived that (thankfully!) and now has Kearns Sayre syndrome/Ophthalmoplegia...she said it's on the same spectrum. So she said he has Mitochondrial Myopathy and Cytopathy, and they are related.....This came as a shock, he's having some muscle deterioration which is scary......but it seems like we have the immunity and Bone marrow problems under control for now with the IVIG and the Neupogen. Does your son have the proximal muscle weakness and the immunity problems too? It was my son's hematologist at Cincinnati Children's who insisted on further investigation for the mito disorder. I'm glad he did, because now I know more of the whole picture. I used to think that mito disorders mainly just involved muscles....now I know the immune system is affected greatly too. Keep us updated on what they find with your child. hugs, Sue From: stacy171 <stacy171@... <mailto:stacy171%40> > Subject: mito & PID families <mailto:%40> Date: Sunday, August 8, 2010, 6:22 PM Hi, I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? Just curious - my son's being evaluated for both PID and mito. Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2010 Report Share Posted August 9, 2010 My son's mito disorder has also affected his bone marrow functioning to the point that he has a bone marrow failure syndrome. He has chronic neutropenia, which requires him to receive injections of GCSF Granulocyte Colony Stimulating Factor (Neupogen) three times a week and he has mild to moderate thrombocytopenia, affecting his platelets also. He has low bone marrow cellularity. He gets the IVIG every two weeks. ..Dr Koenig said it is Pearson's syndrome/Kearn's Sayre which is a mitochondrial cytopathy and myopathy. He has some paralysis of his eye muscles that goes along with this, ophthalmoplegia. I now know why so many systems are affected. But it's the Immunity/Bone Marrow problems that have been most life-threatening to him.  IVIG and Neupogen have been the life-savers....Sue From: stacy171 <stacy171@... <mailto:stacy171%40> > Subject: mito & PID families <mailto:%40> Date: Sunday, August 8, 2010, 6:22 PM Hi, I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? Just curious - my son's being evaluated for both PID and mito. Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2010 Report Share Posted August 9, 2010 My son's mito disorder has also affected his bone marrow functioning to the point that he has a bone marrow failure syndrome. He has chronic neutropenia, which requires him to receive injections of GCSF Granulocyte Colony Stimulating Factor (Neupogen) three times a week and he has mild to moderate thrombocytopenia, affecting his platelets also. He has low bone marrow cellularity. He gets the IVIG every two weeks. ..Dr Koenig said it is Pearson's syndrome/Kearn's Sayre which is a mitochondrial cytopathy and myopathy. He has some paralysis of his eye muscles that goes along with this, ophthalmoplegia. I now know why so many systems are affected. But it's the Immunity/Bone Marrow problems that have been most life-threatening to him.  IVIG and Neupogen have been the life-savers....Sue From: stacy171 <stacy171@... <mailto:stacy171%40> > Subject: mito & PID families <mailto:%40> Date: Sunday, August 8, 2010, 6:22 PM Hi, I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? Just curious - my son's being evaluated for both PID and mito. Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2010 Report Share Posted August 9, 2010 Hi ! We see Dr in the Bone Marrow Failure clinic, hematology. There my son gets his bone marrow biopsies regularly and is followed. That's where they put in his port....I trust the care there. He's been hospitalized a few times at CCHMC. We were there in April. He's seen Dr Arthur in Neurology....and we've seen Dr Bleesing, Immunology...who found all the extensive immunity problems a few years ago. We live in New Orleans, so it's far! But Dr has been wonderful with helping his bone marrow work better. Do ya'll live in Cincinnati? Who do ya'll see there? I live in New Orleans and honestly, the medical care here is scary, all areas of it. and I am an RN, seen it from the inside and out!.    Hugs, Sue From: stacy171 <stacy171@...> Subject: mito & PID families Date: Sunday, August 8, 2010, 6:22 PM  Hi, I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? Just curious - my son's being evaluated for both PID and mito. Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2010 Report Share Posted August 9, 2010 Hi ! We see Dr in the Bone Marrow Failure clinic, hematology. There my son gets his bone marrow biopsies regularly and is followed. That's where they put in his port....I trust the care there. He's been hospitalized a few times at CCHMC. We were there in April. He's seen Dr Arthur in Neurology....and we've seen Dr Bleesing, Immunology...who found all the extensive immunity problems a few years ago. We live in New Orleans, so it's far! But Dr has been wonderful with helping his bone marrow work better. Do ya'll live in Cincinnati? Who do ya'll see there? I live in New Orleans and honestly, the medical care here is scary, all areas of it. and I am an RN, seen it from the inside and out!.    Hugs, Sue From: stacy171 <stacy171@...> Subject: mito & PID families Date: Sunday, August 8, 2010, 6:22 PM  Hi, I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? Just curious - my son's being evaluated for both PID and mito. Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2010 Report Share Posted August 9, 2010 Hi , Dr Koenig is my son's doctor...we like her a lot...she's very thorough. And she treats the child with respect. She is honest, and it's obvious that diagnosing and helping these kids is her passion. I give her " thumbs up " !    Sue From: stacy171 <stacy171@... <mailto:stacy171%40> > Subject: mito & PID families <mailto:%40> Date: Sunday, August 8, 2010, 6:22 PM Hi, I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? Just curious - my son's being evaluated for both PID and mito. Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2010 Report Share Posted August 9, 2010 Who do people see on the west coast to get evaluated for MITO issues? Also does IVIG help with constant URI's that are viral or at least start as viral? _____ From: [mailto: ] On Behalf Of Sue Bordelon Sent: Monday, August 09, 2010 8:56 PM Subject: Re: mito & PID families Hi , Dr Koenig is my son's doctor...we like her a lot...she's very thorough. And she treats the child with respect. She is honest, and it's obvious that diagnosing and helping these kids is her passion. I give her " thumbs up " ! Sue From: stacy171 <stacy171@... <mailto:stacy171%40> <mailto:stacy171%40> > Subject: mito & PID families <mailto:%40> <mailto:%40> Date: Sunday, August 8, 2010, 6:22 PM Hi, I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? Just curious - my son's being evaluated for both PID and mito. Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2010 Report Share Posted August 9, 2010 We see Dr Koenig and we have loved her. I know a lot of her patients and I have rarely heard a negative thing about her. She is personable, has the best bedside manner of any dr I have ever met, and genuinely cares about her patients. She treats them with respect…she sees the child first and the disease next instead of treating them like just another patient they see with this disease. If you ask my boys who their favorite doctor is, she is it, hands down. I wish all of our drs were as kind, compassionate, thorough, and knowledgeable as she is and has the passion to help her patients like she does. , where on the west coast are you? There is Dr Boles at CHLA and Dr Saneto in Seattle. Those are the only ones I know of off the top of my head. Both have long waits to get in to see them, from what I have heard. Hope this helps! Melody, mom to 3 little boys with Mito, complex I From: [mailto: ] On Behalf Of Murrell Sent: Monday, August 09, 2010 7:46 PM Subject: Re: mito & PID families We were told that my daughter has PID as a secondary. Basically that the energy in her body is not enough to run her immune system properly which causes hypogammaglobulenemia which is a type of PID or that is how it is classified at least. When she has more energy problems, then her PID gets worse. That is how it was explained to me at least! I have heard mixed reviews on Dr Koenig. Who all likes her? just wondering good and bad on her... ________________________________ From: Hobbs <hobbsfamily@... <mailto:hobbsfamily%40indy.rr.com> > <mailto:%40> Sent: Mon, August 9, 2010 12:14:21 PM Subject: RE: mito & PID families My kids have mito and immune issues. They are diagnosed with complex I mitochondrial myopathy based on a muscle biopsy on – it’s extended to siblings when there is evidence of disease, which in our case is true of his younger sisters. , especially, presented with immune issues first at about a year and a half and began immunology testing at age 2. He had low IgG (total and subclasses) and pneumococcal antibody deficiency. He has been on IVIG for 5 years (and is 8 tomorrow). Meredith was monitored closely because of and didn’t see a drop in her IgG below the normal range until about age 2 as well. She also doesn’t retain pneumococcal titers very well. Needless to say, we are monitoring Madison (who is 1) to see what she does. As a matter of wording, if your immune issues are a result of mito, you do not have a PID since PID is a PRIMARY diagnosis. Just to clarify. The kids are followed at the mito clinic at Riley Children’s in Indianapolis but we were referred to Dr. Shoffner in Atlanta for biopsy and were able to get a definitive based on that. With our upcoming move to NC, we are transferring their mito care to Dr. Koenig in Houston since they have an immunologist that sees patients in the mito clinic and they are currently doing research looking at the relationship between mito and the immune system – it seemed like a good fit for us! Mom to 4 kids, 3 with mito causing immune deficiencies From: <mailto:%40> [mailto: <mailto:%40> ] On Behalf Of Sent: Monday, August 09, 2010 8:59 AM <mailto:%40> Subject: Re: mito & PID families Thank you for your story - it sounds like you & your son have had a long road. My son has chronic diarrhea, low immunoglobins (but normal antibody response so far), fatigue, elevated liver enzymes, and subclinical seizures. I put 2 and 2 together and I wanted him evaluated for mito. Not an easy task and I work in the field! Wowsers. I didn't think it would be that difficult. There's a lot more that needs to be known about mito and most doctors are uncomfortable with it. Kind of like PID! Does your son do mito cocktail supplements too? My son will have a colonoscopy soon and repeating the titers in a couple of months. I dragged my feet on the colonoscopy due to the anesthesia issues but I'm not sure we can avoid it any longer. ________________________________ From: Sue Bordelon <sudubo@... <mailto:sudubo%40> <mailto:sudubo%40> > <mailto:%40> <mailto:%40> Sent: Sun, August 8, 2010 3:44:25 PM Subject: Re: mito & PID families Hi, as a toddler, my son had good initial response to pneumovax at 1 month, then at 6 months, dropped to pre-vaccine titers (all mostly zero) This was repeated for years, getting two pnemovax a year. Diagnosed with PI now, he has subclass deficiency IgG3, C3 complement deficiency, low IgG, IgM, low NK cells and B and T lymphocyte abnormalities.....He gets IVIG every 2 weeks....he also has a bone marrow failure syndrome....chronic neutropenia, (occas severe) low bone marrow cellularity...he gets Granulocyte Colony Stimulating Factor (Neupogen) injections every Mon Wed Fri. He also has been diagnosed with Mitochondrial disorder....the mito specialist in Houston says he had Pearson's syndrome as an infant, survived that (thankfully!) and now has Kearns Sayre syndrome/Ophthalmoplegia...she said it's on the same spectrum. So she said he has Mitochondrial Myopathy and Cytopathy, and they are related.....This came as a shock, he's having some muscle deterioration which is scary......but it seems like we have the immunity and Bone marrow problems under control for now with the IVIG and the Neupogen. Does your son have the proximal muscle weakness and the immunity problems too? It was my son's hematologist at Cincinnati Children's who insisted on further investigation for the mito disorder. I'm glad he did, because now I know more of the whole picture. I used to think that mito disorders mainly just involved muscles....now I know the immune system is affected greatly too. Keep us updated on what they find with your child. hugs, Sue From: stacy171 <stacy171@... <mailto:stacy171%40> <mailto:stacy171%40> > Subject: mito & PID families <mailto:%40> <mailto:%40> Date: Sunday, August 8, 2010, 6:22 PM Hi, I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? Just curious - my son's being evaluated for both PID and mito. Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 9, 2010 Report Share Posted August 9, 2010 We see Dr Koenig and we have loved her. I know a lot of her patients and I have rarely heard a negative thing about her. She is personable, has the best bedside manner of any dr I have ever met, and genuinely cares about her patients. She treats them with respect…she sees the child first and the disease next instead of treating them like just another patient they see with this disease. If you ask my boys who their favorite doctor is, she is it, hands down. I wish all of our drs were as kind, compassionate, thorough, and knowledgeable as she is and has the passion to help her patients like she does. , where on the west coast are you? There is Dr Boles at CHLA and Dr Saneto in Seattle. Those are the only ones I know of off the top of my head. Both have long waits to get in to see them, from what I have heard. Hope this helps! Melody, mom to 3 little boys with Mito, complex I From: [mailto: ] On Behalf Of Murrell Sent: Monday, August 09, 2010 7:46 PM Subject: Re: mito & PID families We were told that my daughter has PID as a secondary. Basically that the energy in her body is not enough to run her immune system properly which causes hypogammaglobulenemia which is a type of PID or that is how it is classified at least. When she has more energy problems, then her PID gets worse. That is how it was explained to me at least! I have heard mixed reviews on Dr Koenig. Who all likes her? just wondering good and bad on her... ________________________________ From: Hobbs <hobbsfamily@... <mailto:hobbsfamily%40indy.rr.com> > <mailto:%40> Sent: Mon, August 9, 2010 12:14:21 PM Subject: RE: mito & PID families My kids have mito and immune issues. They are diagnosed with complex I mitochondrial myopathy based on a muscle biopsy on – it’s extended to siblings when there is evidence of disease, which in our case is true of his younger sisters. , especially, presented with immune issues first at about a year and a half and began immunology testing at age 2. He had low IgG (total and subclasses) and pneumococcal antibody deficiency. He has been on IVIG for 5 years (and is 8 tomorrow). Meredith was monitored closely because of and didn’t see a drop in her IgG below the normal range until about age 2 as well. She also doesn’t retain pneumococcal titers very well. Needless to say, we are monitoring Madison (who is 1) to see what she does. As a matter of wording, if your immune issues are a result of mito, you do not have a PID since PID is a PRIMARY diagnosis. Just to clarify. The kids are followed at the mito clinic at Riley Children’s in Indianapolis but we were referred to Dr. Shoffner in Atlanta for biopsy and were able to get a definitive based on that. With our upcoming move to NC, we are transferring their mito care to Dr. Koenig in Houston since they have an immunologist that sees patients in the mito clinic and they are currently doing research looking at the relationship between mito and the immune system – it seemed like a good fit for us! Mom to 4 kids, 3 with mito causing immune deficiencies From: <mailto:%40> [mailto: <mailto:%40> ] On Behalf Of Sent: Monday, August 09, 2010 8:59 AM <mailto:%40> Subject: Re: mito & PID families Thank you for your story - it sounds like you & your son have had a long road. My son has chronic diarrhea, low immunoglobins (but normal antibody response so far), fatigue, elevated liver enzymes, and subclinical seizures. I put 2 and 2 together and I wanted him evaluated for mito. Not an easy task and I work in the field! Wowsers. I didn't think it would be that difficult. There's a lot more that needs to be known about mito and most doctors are uncomfortable with it. Kind of like PID! Does your son do mito cocktail supplements too? My son will have a colonoscopy soon and repeating the titers in a couple of months. I dragged my feet on the colonoscopy due to the anesthesia issues but I'm not sure we can avoid it any longer. ________________________________ From: Sue Bordelon <sudubo@... <mailto:sudubo%40> <mailto:sudubo%40> > <mailto:%40> <mailto:%40> Sent: Sun, August 8, 2010 3:44:25 PM Subject: Re: mito & PID families Hi, as a toddler, my son had good initial response to pneumovax at 1 month, then at 6 months, dropped to pre-vaccine titers (all mostly zero) This was repeated for years, getting two pnemovax a year. Diagnosed with PI now, he has subclass deficiency IgG3, C3 complement deficiency, low IgG, IgM, low NK cells and B and T lymphocyte abnormalities.....He gets IVIG every 2 weeks....he also has a bone marrow failure syndrome....chronic neutropenia, (occas severe) low bone marrow cellularity...he gets Granulocyte Colony Stimulating Factor (Neupogen) injections every Mon Wed Fri. He also has been diagnosed with Mitochondrial disorder....the mito specialist in Houston says he had Pearson's syndrome as an infant, survived that (thankfully!) and now has Kearns Sayre syndrome/Ophthalmoplegia...she said it's on the same spectrum. So she said he has Mitochondrial Myopathy and Cytopathy, and they are related.....This came as a shock, he's having some muscle deterioration which is scary......but it seems like we have the immunity and Bone marrow problems under control for now with the IVIG and the Neupogen. Does your son have the proximal muscle weakness and the immunity problems too? It was my son's hematologist at Cincinnati Children's who insisted on further investigation for the mito disorder. I'm glad he did, because now I know more of the whole picture. I used to think that mito disorders mainly just involved muscles....now I know the immune system is affected greatly too. Keep us updated on what they find with your child. hugs, Sue From: stacy171 <stacy171@... <mailto:stacy171%40> <mailto:stacy171%40> > Subject: mito & PID families <mailto:%40> <mailto:%40> Date: Sunday, August 8, 2010, 6:22 PM Hi, I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? Just curious - my son's being evaluated for both PID and mito. Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 10, 2010 Report Share Posted August 10, 2010 Sue  We see Dr Bleesing for immunology and we are seeing Dr in just a couple of weeks for the first time. We are seeing Dr Kaul for GI in Sept and Dev Peds. Dr Brunner is her rheumatologist. We see Dr Bonsall for opathamology. We do PT and OT evals in the rheumatology clinic and Amy is her dietician. We are seeing Dr deGrauw in a couple of weeks for neurology.  Just curious... what was the thing that you got referred to Dr for? I am a little confused what they want us to tell him or what " symptoms " he is interested in.  We live in East TN. Medical care is HORRIBLE here!!! We went through a false accusation here so we are NOT doing medical care here again. When we went to Cinci, we began to realize how poorly her medical care had been managed. Cinci was just astonished on how things were completely contradicted in her records.  How often do you go to Cinci? ________________________________ From: Sue Bordelon <sudubo@...> Sent: Mon, August 9, 2010 10:17:07 PM Subject: Re: mito & PID families  Hi ! We see Dr in the Bone Marrow Failure clinic, hematology. There my son gets his bone marrow biopsies regularly and is followed. That's where they put in his port....I trust the care there. He's been hospitalized a few times at CCHMC. We were there in April. He's seen Dr Arthur in Neurology....and we've seen Dr Bleesing, Immunology...who found all the extensive immunity problems a few years ago. We live in New Orleans, so it's far! But Dr has been wonderful with helping his bone marrow work better. Do ya'll live in Cincinnati? Who do ya'll see there? I live in New Orleans and honestly, the medical care here is scary, all areas of it. and I am an RN, seen it from the inside and out!.    Hugs, Sue From: stacy171 <stacy171@...> Subject: mito & PID families Date: Sunday, August 8, 2010, 6:22 PM  Hi, I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? Just curious - my son's being evaluated for both PID and mito. Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 10, 2010 Report Share Posted August 10, 2010 , Dr is e's main Dr at Cincinnati Childrens. We first went there because his WBC was staying very low at 1.2   also, his ANC showed severe neutropenia and his platelet count was low....he was referred to Dr for Bone Marrow Failure syndrome. His bone marrow cellularity is only 20%.  Dr said he needed Granulocyte colony Stimulating Factor (Neupogen) which brought his neutrophils up and he did a Bone Marrow biopsy and that's where he goes regularly for bone marrow biopsies. He gets the Neupogen three times a week....Dr Bleesing found all the immune deficiency problems, as he did extensive workup...he had been found to be immune deficient as a toddler, but things had worsened, more areas of problems.  e has seen Dr Kaul too. Ya'll will love Dr , he's so brilliant but very down-to-earth and caring.  How is your child's CBC? so many times, immunity problems go hand in hand with hematological disorders....perhaps he'll eant to look at your child's bone marrow if there are abnormalities in the peripheral blood......  Yeah, I hear what you're saying about an area with poor medical care...when you go somewhere like Cincinnati children's and see how things are supposed to be done, it's shocking..... Sue From: stacy171 <stacy171@...> Subject: mito & PID families Date: Sunday, August 8, 2010, 6:22 PM  Hi, I was wondering how your children presented with PID. Do they have a decent antibody respnse and then lose it? Or did they not have a good response right from the beginning? Just curious - my son's being evaluated for both PID and mito. Thanks, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 15, 2010 Report Share Posted August 15, 2010 thanks so much! I looked into it, and Cleveland is closest to us. We are willing to drive there, but in the meantime I have scheduled an appt with a neurologist in D.C. who is on the list of doctors interested in mito diseases. Hopefully, this is a good start. His migraines have really worsened in the past few months; that, put together with his muscle cramps--I am tired of seeing him in pain and not being able to help him. His quality of life is not very good. I did look up the testing he had done when he was two, and one test was abnormal--blood carnitine was low (he had some elevated urinary acids, but " no specific pattern " was noted). They had used newborn normals and he was 2.5 years old. I don't know if that is a marker, but I will ask his pedi. Mindy, in northern Va. > There is some bloodwork that can look for mito markers, of sorts, but I > think you should start by seeing the neuro again. There have been a lot > of > studies recently linking autism and mito and with his muscle symptoms, > that > would certainly be a red flag. For us, it was the constellation of > symptoms > (far more than immune stuff, mainly metabolic abnormalities) that got our > doctor’s to think about mito. We eventually got the diagnosis from a > muscle > biopsy, fortunately, because there are a lot of false negatives on > biopsies. > Genetic testing is generally a first step, looking at mitochondrial DNA > abnormalities but that only catches about 10% of mito. Sounds like your > son > would benefit from seeing a mito specialist. I don’t know where in > Virginia > you are and where the closest mito clinic to you might be – probably > either > Boston, Cleveland Clinic, or Atlanta depending on where you are. > > > > Mitochondrial disease presents itself in so many different ways that there > is no “one thing” that EVERYONE has that you can say, “check this and > you’ll > get your answer” which is why it’s so important to see a doctor that > specializes in mitochondrial diseases if you can swing it. There really > is > a big difference between a regular neuro or geneticist and one that has > seen > lots of mito patients. > > > > Good luck! > > > > Mom of 4, 3 with Complex I mito with secondary immune deficiency > > > > From: [mailto: ] On Behalf Of > mindy@... > Sent: Monday, August 09, 2010 2:15 PM > > Subject: Re: mito & PID families > > > > > > I am curious as to how you can determine a child has mito also (or ID > because of mito)? My 8 yo son is recently diagnosed with CVID this year > (low IgG--IgG1 and IgG3 too--and IgM), but also has autism, low muscle > tone apraxia, asthma, food allergies, poor growth and reflux. For > example, he has problems with grip strength, requiring hand-over-hand and > frequent rests between in order to hold a pencil. He has always had grasp > issues. Actually using his hands (to turn on a lever faucet) has improved > some with OT, but he can't open bottles or twist knobs easily. He also has > poor shoulder girdle strength, so it is easier for him to work below him > (with gravity), or on a table with arm support, but cannot easily work on > a chalkboard or computer screen for example (which would require him to > raise his arm in a precise manner--he can throw it up there, but not with > control). He also has laxity of his joints, so is double- and > triple-jointed. I just wanted to give examples of his motor weakness > issues as reference. Therapists and doctors have always just indicated > that these muscle issues are common in autism. > > Over the past almost 2 years, he has been noticeably declining, with > weight loss, intermittently severe muscle cramps and pain in his legs, > fatigues easily, and can't walk too far, maybe 2-3 blocks slowly? (we just > bought a bigger stroller so that he can do trips with us), worsening > reflux=type symptoms (but negative scope). He always gets very frequent > GI and respiratory viral infection (with asthma flares), but now less > frequent skin and respiratory bacterial infections on Immune Globulin. We > have been very lucky in the infection department, after hearing your > stories...I have homeschooled him all along, as he has always gotten sick > anywhere he went (did speech therapy and OT at home, too, whenever we > could). > > So how does one say that it might be mito? I have already been concerned > that he needs a neurology check to look into the hypotonia again (the > developmental pedi diagnosed him as central nervous system dysfunction and > autism, which I think the first is just a " catch-all " diagnosis), but the > neuro I have used in this area with another child is not taking new > patients...so I will have to search for another doctor. The pedi and > developmental pedi he had when he was an infant/toddler were concerned > enough to run all the metabolic testing they could think of, which was all > negative. He had initial FISH/DNA testing in 2005, looking for genetic > syndromes that could cause autism--all normal, too. > > You know how it is, I always have to make sure that I have investigated > all possibilities How does one decide to check into mito, as I am sure > one can have separate illnesses, too? Are there other tests, or more > updated tests that might be beneficial? any advice? > > Thanks, I know this is a long post. Before I say most of the past two > years is mostly from CVID, I want to make sure we aren't missing anything. > > Mindy, in Virginia > >> Hi, as a toddler, my son had good initial response to pneumovax at 1 > month, then at 6 months, dropped to pre-vaccine titers (all mostly zero) > This was repeated for years, getting two pnemovax a year. >> Diagnosed with PI now, he has subclass deficiency IgG3, C3 complement > deficiency, low IgG, IgM, low NK cells and B and T lymphocyte >> abnormalities.....He gets IVIG every 2 weeks....he also has a bone > marrow >> failure syndrome....chronic neutropenia, (occas severe) low bone marrow > cellularity...he gets Granulocyte Colony Stimulating Factor (Neupogen) > injections every Mon Wed Fri. >> He also has been diagnosed with Mitochondrial disorder....the mito > specialist in Houston says he had Pearson's syndrome as an infant, > survived that (thankfully!) and now has Kearns Sayre >> syndrome/Ophthalmoplegia...she said it's on the same spectrum. So she > said >> he has Mitochondrial Myopathy and Cytopathy, and they are > related.....This >> came as a shock, he's having some muscle deterioration which is >> scary......but it seems like we have the immunity and Bone marrow > problems >> under control for now with the IVIG and the Neupogen. >> Does your son have the proximal muscle weakness and the immunity > problems >> too? >> It was my son's hematologist at Cincinnati Children's who insisted on > further investigation for the mito disorder. I'm glad he did, because > now >> I know more of the whole picture. I used to think that mito disorders > mainly just involved muscles....now I know the immune system is affected > greatly too. >> Keep us updated on what they find with your child. hugs, Sue >> >> From: stacy171 <stacy171@... <mailto:stacy171%40> > >> Subject: mito & PID families >> <mailto:%40> >> Date: Sunday, August 8, 2010, 6:22 PM >>  >> Hi, >> I was wondering how your children presented with PID. Do they have a > decent antibody respnse and then lose it? Or did they not have a good > response right from the beginning? >> Just curious - my son's being evaluated for both PID and mito. >> Thanks, >> >> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 15, 2010 Report Share Posted August 15, 2010 thanks so much! I looked into it, and Cleveland is closest to us. We are willing to drive there, but in the meantime I have scheduled an appt with a neurologist in D.C. who is on the list of doctors interested in mito diseases. Hopefully, this is a good start. His migraines have really worsened in the past few months; that, put together with his muscle cramps--I am tired of seeing him in pain and not being able to help him. His quality of life is not very good. I did look up the testing he had done when he was two, and one test was abnormal--blood carnitine was low (he had some elevated urinary acids, but " no specific pattern " was noted). They had used newborn normals and he was 2.5 years old. I don't know if that is a marker, but I will ask his pedi. Mindy, in northern Va. > There is some bloodwork that can look for mito markers, of sorts, but I > think you should start by seeing the neuro again. There have been a lot > of > studies recently linking autism and mito and with his muscle symptoms, > that > would certainly be a red flag. For us, it was the constellation of > symptoms > (far more than immune stuff, mainly metabolic abnormalities) that got our > doctor’s to think about mito. We eventually got the diagnosis from a > muscle > biopsy, fortunately, because there are a lot of false negatives on > biopsies. > Genetic testing is generally a first step, looking at mitochondrial DNA > abnormalities but that only catches about 10% of mito. Sounds like your > son > would benefit from seeing a mito specialist. I don’t know where in > Virginia > you are and where the closest mito clinic to you might be – probably > either > Boston, Cleveland Clinic, or Atlanta depending on where you are. > > > > Mitochondrial disease presents itself in so many different ways that there > is no “one thing” that EVERYONE has that you can say, “check this and > you’ll > get your answer” which is why it’s so important to see a doctor that > specializes in mitochondrial diseases if you can swing it. There really > is > a big difference between a regular neuro or geneticist and one that has > seen > lots of mito patients. > > > > Good luck! > > > > Mom of 4, 3 with Complex I mito with secondary immune deficiency > > > > From: [mailto: ] On Behalf Of > mindy@... > Sent: Monday, August 09, 2010 2:15 PM > > Subject: Re: mito & PID families > > > > > > I am curious as to how you can determine a child has mito also (or ID > because of mito)? My 8 yo son is recently diagnosed with CVID this year > (low IgG--IgG1 and IgG3 too--and IgM), but also has autism, low muscle > tone apraxia, asthma, food allergies, poor growth and reflux. For > example, he has problems with grip strength, requiring hand-over-hand and > frequent rests between in order to hold a pencil. He has always had grasp > issues. Actually using his hands (to turn on a lever faucet) has improved > some with OT, but he can't open bottles or twist knobs easily. He also has > poor shoulder girdle strength, so it is easier for him to work below him > (with gravity), or on a table with arm support, but cannot easily work on > a chalkboard or computer screen for example (which would require him to > raise his arm in a precise manner--he can throw it up there, but not with > control). He also has laxity of his joints, so is double- and > triple-jointed. I just wanted to give examples of his motor weakness > issues as reference. Therapists and doctors have always just indicated > that these muscle issues are common in autism. > > Over the past almost 2 years, he has been noticeably declining, with > weight loss, intermittently severe muscle cramps and pain in his legs, > fatigues easily, and can't walk too far, maybe 2-3 blocks slowly? (we just > bought a bigger stroller so that he can do trips with us), worsening > reflux=type symptoms (but negative scope). He always gets very frequent > GI and respiratory viral infection (with asthma flares), but now less > frequent skin and respiratory bacterial infections on Immune Globulin. We > have been very lucky in the infection department, after hearing your > stories...I have homeschooled him all along, as he has always gotten sick > anywhere he went (did speech therapy and OT at home, too, whenever we > could). > > So how does one say that it might be mito? I have already been concerned > that he needs a neurology check to look into the hypotonia again (the > developmental pedi diagnosed him as central nervous system dysfunction and > autism, which I think the first is just a " catch-all " diagnosis), but the > neuro I have used in this area with another child is not taking new > patients...so I will have to search for another doctor. The pedi and > developmental pedi he had when he was an infant/toddler were concerned > enough to run all the metabolic testing they could think of, which was all > negative. He had initial FISH/DNA testing in 2005, looking for genetic > syndromes that could cause autism--all normal, too. > > You know how it is, I always have to make sure that I have investigated > all possibilities How does one decide to check into mito, as I am sure > one can have separate illnesses, too? Are there other tests, or more > updated tests that might be beneficial? any advice? > > Thanks, I know this is a long post. Before I say most of the past two > years is mostly from CVID, I want to make sure we aren't missing anything. > > Mindy, in Virginia > >> Hi, as a toddler, my son had good initial response to pneumovax at 1 > month, then at 6 months, dropped to pre-vaccine titers (all mostly zero) > This was repeated for years, getting two pnemovax a year. >> Diagnosed with PI now, he has subclass deficiency IgG3, C3 complement > deficiency, low IgG, IgM, low NK cells and B and T lymphocyte >> abnormalities.....He gets IVIG every 2 weeks....he also has a bone > marrow >> failure syndrome....chronic neutropenia, (occas severe) low bone marrow > cellularity...he gets Granulocyte Colony Stimulating Factor (Neupogen) > injections every Mon Wed Fri. >> He also has been diagnosed with Mitochondrial disorder....the mito > specialist in Houston says he had Pearson's syndrome as an infant, > survived that (thankfully!) and now has Kearns Sayre >> syndrome/Ophthalmoplegia...she said it's on the same spectrum. So she > said >> he has Mitochondrial Myopathy and Cytopathy, and they are > related.....This >> came as a shock, he's having some muscle deterioration which is >> scary......but it seems like we have the immunity and Bone marrow > problems >> under control for now with the IVIG and the Neupogen. >> Does your son have the proximal muscle weakness and the immunity > problems >> too? >> It was my son's hematologist at Cincinnati Children's who insisted on > further investigation for the mito disorder. I'm glad he did, because > now >> I know more of the whole picture. I used to think that mito disorders > mainly just involved muscles....now I know the immune system is affected > greatly too. >> Keep us updated on what they find with your child. hugs, Sue >> >> From: stacy171 <stacy171@... <mailto:stacy171%40> > >> Subject: mito & PID families >> <mailto:%40> >> Date: Sunday, August 8, 2010, 6:22 PM >>  >> Hi, >> I was wondering how your children presented with PID. Do they have a > decent antibody respnse and then lose it? Or did they not have a good > response right from the beginning? >> Just curious - my son's being evaluated for both PID and mito. >> Thanks, >> >> Quote Link to comment Share on other sites More sharing options...
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