Guest guest Posted August 8, 2010 Report Share Posted August 8, 2010 - Macey presented with repeated infections, strange bacterias and finally sinus polyps at 2 years old. Her initial labwork was low overall. She does not have a mitochondrial disease. Although a few PID families on the list do have children affected by both diseases the vast majority do not. Ursula Mom to (17) and Macey (15) Macey's Caringbridge site Macey's Blog ________________________________ From: stacy171 <stacy171@...> Sent: Sun, August 8, 2010 2:22:55 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 8, 2010 Report Share Posted August 8, 2010 - Macey presented with repeated infections, strange bacterias and finally sinus polyps at 2 years old. Her initial labwork was low overall. She does not have a mitochondrial disease. Although a few PID families on the list do have children affected by both diseases the vast majority do not. Ursula Mom to (17) and Macey (15) Macey's Caringbridge site Macey's Blog ________________________________ From: stacy171 <stacy171@...> Sent: Sun, August 8, 2010 2:22:55 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 8, 2010 Report Share Posted August 8, 2010 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 8, 2010 Report Share Posted August 8, 2010 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 My daughter, Hannah has hyper ige syndrome. She is now 3 years old, but presented with symptoms a couple weeks after birth. She had several ear infections, outer and inner, a huge skin infection that covered her face and the entire back of her head, and she had a lung infection. She was also dropping weight. She had been on seven different antibiotics by the time she was 5 months old. After much persistence from myself, the doctor finally moved us on to a allergist/immunologist who already had an idea of what she had, but he wanted to draw the labs. Just before she was one, her blood work was sent to a genetics lab, and they confirmed her diagnosis with a genetic mutation that they found in her. We just thank God for providing us with awesome doctors who knew what they were looking for and diagnosed her very early. I don't wish this on anyone, but I do hope that you get answers soon. No one wants their child to be diagnosed with an illness, but I know that having answers so that we could move forward, helped me a great deal. God bless you.  Roach  " When I don't measure up to much in this life, I'm a treasure in the arms of Christ " --Sanctus Real From: stacy171 <stacy171@...> Subject: mito & PID families Date: Sunday, August 8, 2010, 1:22 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 daughter, Hannah has hyper ige syndrome. She is now 3 years old, but presented with symptoms a couple weeks after birth. She had several ear infections, outer and inner, a huge skin infection that covered her face and the entire back of her head, and she had a lung infection. She was also dropping weight. She had been on seven different antibiotics by the time she was 5 months old. After much persistence from myself, the doctor finally moved us on to a allergist/immunologist who already had an idea of what she had, but he wanted to draw the labs. Just before she was one, her blood work was sent to a genetics lab, and they confirmed her diagnosis with a genetic mutation that they found in her. We just thank God for providing us with awesome doctors who knew what they were looking for and diagnosed her very early. I don't wish this on anyone, but I do hope that you get answers soon. No one wants their child to be diagnosed with an illness, but I know that having answers so that we could move forward, helped me a great deal. God bless you.  Roach  " When I don't measure up to much in this life, I'm a treasure in the arms of Christ " --Sanctus Real From: stacy171 <stacy171@...> Subject: mito & PID families Date: Sunday, August 8, 2010, 1:22 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 Ursula, I don't think I stated my question well! I was looking to see if children with mitochondrial disorder present with PID differently. Just a thought I had and wanted to get some feedback. However, to respond to your comment, I am willing to bet that many more children with PID have mito than is diagnosed. I work in the genetics field and I'm noticing a lot of overlap with the two conditions. Especially as I hear more and more descriptions from families. However, mito is very difficult to diagnose and therefore will probably go underdiagnosed. ________________________________ From: Ursula Holleman <uahollem@...> Sent: Sun, August 8, 2010 2:43:20 PM Subject: Re: mito & PID families  - Macey presented with repeated infections, strange bacterias and finally sinus polyps at 2 years old. Her initial labwork was low overall. She does not have a mitochondrial disease. Although a few PID families on the list do have children affected by both diseases the vast majority do not. Ursula Mom to (17) and Macey (15) Macey's Caringbridge site Macey's Blog ________________________________ From: stacy171 <stacy171@...> Sent: Sun, August 8, 2010 2:22:55 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 Hi Ursula, I don't think I stated my question well! I was looking to see if children with mitochondrial disorder present with PID differently. Just a thought I had and wanted to get some feedback. However, to respond to your comment, I am willing to bet that many more children with PID have mito than is diagnosed. I work in the genetics field and I'm noticing a lot of overlap with the two conditions. Especially as I hear more and more descriptions from families. However, mito is very difficult to diagnose and therefore will probably go underdiagnosed. ________________________________ From: Ursula Holleman <uahollem@...> Sent: Sun, August 8, 2010 2:43:20 PM Subject: Re: mito & PID families  - Macey presented with repeated infections, strange bacterias and finally sinus polyps at 2 years old. Her initial labwork was low overall. She does not have a mitochondrial disease. Although a few PID families on the list do have children affected by both diseases the vast majority do not. Ursula Mom to (17) and Macey (15) Macey's Caringbridge site Macey's Blog ________________________________ From: stacy171 <stacy171@...> Sent: Sun, August 8, 2010 2:22:55 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 Missy, I've heard the Cleveland Clinic is the best place to go for an evaluation. We live a ways from there, so we are using Kennedy Kreiger in land. The laboratory there is capable of making a diagnosis biochemically.  Other options - doctors could order genetic testing by blood and there's always the muscle biopsy.  Genetic testing is accurate but it doesn't check for every genetic alteration so you could get a false negative.   Our doctor at kennedy kreiger feels a muscle biopsy will likely be false negative since my son does not have significiant muscle disease. He is a little low toned but not bad. Mostly just bad fatigue.  He also has bowel disease and subclinical seizures. ________________________________ From: Missy <monstersmom@...> Sent: Sun, August 8, 2010 3:15:32 PM Subject: RE: mito & PID families  , My son is IGG and IGA deficient and he has suspected Mito. As of right now his antibody response is normal, but they are re-checking it. What hospital are you using for the Mito? Missy Mommy to , my 2 year old Monster with VACTERLS & PDD-NOS Shop 24 hours a day! Visit me, your Discovery Toys Independent Educational Consultant. www.discoverytoyslink.com/mleiby From: [mailto: ] On Behalf Of stacy171 Sent: Sunday, August 08, 2010 2:23 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 Missy, I've heard the Cleveland Clinic is the best place to go for an evaluation. We live a ways from there, so we are using Kennedy Kreiger in land. The laboratory there is capable of making a diagnosis biochemically.  Other options - doctors could order genetic testing by blood and there's always the muscle biopsy.  Genetic testing is accurate but it doesn't check for every genetic alteration so you could get a false negative.   Our doctor at kennedy kreiger feels a muscle biopsy will likely be false negative since my son does not have significiant muscle disease. He is a little low toned but not bad. Mostly just bad fatigue.  He also has bowel disease and subclinical seizures. ________________________________ From: Missy <monstersmom@...> Sent: Sun, August 8, 2010 3:15:32 PM Subject: RE: mito & PID families  , My son is IGG and IGA deficient and he has suspected Mito. As of right now his antibody response is normal, but they are re-checking it. What hospital are you using for the Mito? Missy Mommy to , my 2 year old Monster with VACTERLS & PDD-NOS Shop 24 hours a day! Visit me, your Discovery Toys Independent Educational Consultant. www.discoverytoyslink.com/mleiby From: [mailto: ] On Behalf Of stacy171 Sent: Sunday, August 08, 2010 2:23 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 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@...> 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@...> 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 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@...> 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@...> 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. My son has suspected mito. He has had GI issues from birth and has sutoimmune eosinophilic gastroenteritis. His body essentially treats food as it would a virus and attacks his GI tract. As a result he is only able to eat potato and has a G-tube to receive elemental formula. He is way out of the typical range for his GI disease so his GI doc began investigating further with the group of kids that were more severe and found many had mito. Bens muscle biopsy was abnormal with a high number of subsarcolemnal aggregates of mitochondria but results were negative. Ben also has migraines, fatigue so severe it prevents him from attending school, leg muscle pain requiring a wheelchair fir distances, heat intolerance. His GI doc still thinks he has mito but the testing is imperfect so we can't prove it yet. We found Ben's immune issues when searching for causes for his GI disease, low IgG and no response to titers, and autoimmune disease.... Interesting that you're seeing a connection with mito and immune disease, not real surprising. Ben had huge improvement with leg muscle pain after 5 weeks on CoQ10. I encourage you to pursue the GI issues, they're also common in mito. We've had at least a dozen scopes here. You gotta do what you gotta do... Good luck. Cindi Sent from my iPhone On Aug 9, 2010, at 8:59 AM, <stacy171@...> wrote: > 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@...> > > 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@...> > 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. My son has suspected mito. He has had GI issues from birth and has sutoimmune eosinophilic gastroenteritis. His body essentially treats food as it would a virus and attacks his GI tract. As a result he is only able to eat potato and has a G-tube to receive elemental formula. He is way out of the typical range for his GI disease so his GI doc began investigating further with the group of kids that were more severe and found many had mito. Bens muscle biopsy was abnormal with a high number of subsarcolemnal aggregates of mitochondria but results were negative. Ben also has migraines, fatigue so severe it prevents him from attending school, leg muscle pain requiring a wheelchair fir distances, heat intolerance. His GI doc still thinks he has mito but the testing is imperfect so we can't prove it yet. We found Ben's immune issues when searching for causes for his GI disease, low IgG and no response to titers, and autoimmune disease.... Interesting that you're seeing a connection with mito and immune disease, not real surprising. Ben had huge improvement with leg muscle pain after 5 weeks on CoQ10. I encourage you to pursue the GI issues, they're also common in mito. We've had at least a dozen scopes here. You gotta do what you gotta do... Good luck. Cindi Sent from my iPhone On Aug 9, 2010, at 8:59 AM, <stacy171@...> wrote: > 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@...> > > 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@...> > 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 Sue, We go to Cincinnati Children's as well! Who all do you see there? ________________________________ From: Sue Bordelon <sudubo@...> 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@...> 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 Sue, We go to Cincinnati Children's as well! Who all do you see there? ________________________________ From: Sue Bordelon <sudubo@...> 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@...> 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 Just thought I would chime in here and say that Dr Kendall has been getting amazing reviews and people are just raving about the care they get with her. We have an appointment scheduled with her and so far, I am extremely impressed! ________________________________ From: Missy <monstersmom@...> Sent: Sun, August 8, 2010 3:15:32 PM Subject: RE: mito & PID families  , My son is IGG and IGA deficient and he has suspected Mito. As of right now his antibody response is normal, but they are re-checking it. What hospital are you using for the Mito? Missy Mommy to , my 2 year old Monster with VACTERLS & PDD-NOS Shop 24 hours a day! Visit me, your Discovery Toys Independent Educational Consultant. www.discoverytoyslink.com/mleiby From: [mailto: ] On Behalf Of stacy171 Sent: Sunday, August 08, 2010 2:23 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 Just thought I would chime in here and say that Dr Kendall has been getting amazing reviews and people are just raving about the care they get with her. We have an appointment scheduled with her and so far, I am extremely impressed! ________________________________ From: Missy <monstersmom@...> Sent: Sun, August 8, 2010 3:15:32 PM Subject: RE: mito & PID families  , My son is IGG and IGA deficient and he has suspected Mito. As of right now his antibody response is normal, but they are re-checking it. What hospital are you using for the Mito? Missy Mommy to , my 2 year old Monster with VACTERLS & PDD-NOS Shop 24 hours a day! Visit me, your Discovery Toys Independent Educational Consultant. www.discoverytoyslink.com/mleiby From: [mailto: ] On Behalf Of stacy171 Sent: Sunday, August 08, 2010 2:23 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 , Where is he being evaluated at? My daughter has PID and doctors have said probable mito. She has poor immune responses from the age of 1 and they never came back up nor did her immunoglobulin levels. I am not sure if they were low before 1. I do not think they were checked before then. ________________________________ From: stacy171 <stacy171@...> Sent: Sun, August 8, 2010 2:22:55 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 , Where is he being evaluated at? My daughter has PID and doctors have said probable mito. She has poor immune responses from the age of 1 and they never came back up nor did her immunoglobulin levels. I am not sure if they were low before 1. I do not think they were checked before then. ________________________________ From: stacy171 <stacy171@...> Sent: Sun, August 8, 2010 2:22:55 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 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 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 So I am interested in the DIFFERENCES in Mito and PID? My son is 14 and is currently doing well on SubQ but I am curious since we had a number of years with significant issues with the gut, infections etc. BARBIE ________________________________ From: Hobbs <hobbsfamily@...> Sent: Mon, August 9, 2010 9:14:21 AM 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 So I am interested in the DIFFERENCES in Mito and PID? My son is 14 and is currently doing well on SubQ but I am curious since we had a number of years with significant issues with the gut, infections etc. BARBIE ________________________________ From: Hobbs <hobbsfamily@...> Sent: Mon, August 9, 2010 9:14:21 AM 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 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...
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