Guest guest Posted January 22, 2005 Report Share Posted January 22, 2005 Hey Nicky, Were also somewhat new to all this, we only got final confirmation of s diagnosis yesterday although he got sick for the first time a year ago yesterday (appropriate timing). turned 2 in December, and like you I knew something was wrong well before anyone else... last January he got sick and they insisted it was a viral problem... in May I finally pushed enough to get them to do more testing, and the tests showed something was up (lactic acidosis, low carnatine, low blood sugar, and a bunch of other issues) thye did a biosy in October and it came back this week showing he has a Complex 1 Deficiency. All in all is quite healthy considering... hes is severly speech delayed and doesnt talk, although he has learned over 50 signs now, so is very communicative. His hearing screen came back ok, but they werent able to do a very thorough one as he didnt want to cooperate, though at this time we dont have any concerns about his hearing. As for your questions, our life has been completely changed by all this... my hopes for have completely shifted, I dont take much for granted anymore, Our life has been taken over by medical bills, doctors appointments, speech and physio therapy, pain control, avoiding viruses, and all the while trying to make sure he has a fun time in it all... but in the end we do have alot of fun... i think we appreciate the smaller things more than most families do, because we know how fragile it all is. Feeling out of control? oh yea. the last year has been like a roller coaster ride. everytime he would get the sniffles I would wonder 'what will this turn into??' this summer he had a temp of 101 when we got on a plane in minneapolis, an hour later we got off the plane in Winnipeg and his temp was 107... i mean what do you do in an airport with no tylenol or motrin, and a baby with a temp of 107??? I freaked out in customs (thank goodness they got us through fast as the linup was over an hour otherwise)! not only having to learn about this diagnosis, but taking it upon myself to have to explain it all to the ER doctor when hes sick... who more often than not doesnt appreciate being taught something by a parent. Control is NOT something that goes hand in hand with sick children... I dont imagine your the only one with a strained marriage... sick kids are extremely difficult on couples, especially when both partners deal with this sort of thing differently. My husband likes to pretend everythings fine, while I like to hash out every little detail. this has made it difficult on both of us, as I want to talk about it and he wants to ignore it. But at the same time I have found that its really nice to buy into his point of view sometimes, and pretend life is peachy... likewise he occasionally likes to have 'crash courses' on whats happening, since im primarily the one that takes to doc appointment. I make sure he is there for the pivotal appointments (the ones we get results at and such), but other than that he usually has to work on appt days. (this also makes it easier for him to imagine everythings fine). I thought at first that he didnt care about all of it that much, but over time i realised its just his way of dealing with it, even if it is opposite to teh way i deal with it... How do I keep up? I dont. lol! in all of this im 9 months pregnant right now, so getting through the day in once piece with a happy, well fed child is the only major priority of mine... As for his needs, they change daily, one day he will need 2 naps, the next he needs 1, one night he needs to go to bed at 6, the next night its 8... one day hes up at 6, the next its 9... some days his blood sugar is low and he needs to snack constantly, other days his sugar is fine... some days his legs hurt and he needs to spend lots of time in his high chair, other days his legs are fine... some days hes shakey, otehrs hes not... you get the point... ive figured out that the best way to keep myself sane is to stop trying to predict what kind of a day it will be, and let him call the shots... I never know what he will need, or how he will be feeling (and how that will jibe with how im doing, as i have my own health problems to deal with in all this) until the time comes, so trying to make solid plans is a frustrating thing. Anyawys, i wasnt meaning to come of as whiney, just realistic... in spite of all that we really do have alot of fun... granted lately were pretty slowed down, that has more to do with this baby on the way than anything... Welcome to the group, im sure your going to find everyone here a huge help, theres nothing better than talking to a group of people who honestly DO know exactly how you feel... makes it all a little less scary. Keely (mom to , 2, Complex 1 deficiency) > > > Hi, I new to post to this group. I have a son who is 2.5 yrs. > diagnosed with pyruvate dehydrogen. deficiency. He was diagnosed at > 7 mos. I knew there was something wrong at 3 mos.. I am an > audiologist and my son with diagnosed with a progressive hearing > loss at 6 weeks. As an infant, he screamed all day long. He had > severe head lag. I knew there was something wrong with him. I asked > to see a neurologist at 4 mos. They also thought due to the > progressive nature of his hearing loss that there was something > genetically wrong. They did a ton of labs. Found that he had > severe lactate acidosis. He immediately was put on DCA. Which > revealed a significant improvement. No increased acidosis. His is > now 2, Isaiah is the happiest boy ever. He has a g-tube, deaf (with > a cochlear implant), doesn't sit up, still with poor head control. > He is such a wild man. He rolls all over. We are so glad to be > blessed with him. > > I guess my question is for parents with these sick kids. How has > your life been affected by this. Do you sometimes feel out of > control. Am I the only on that has a strained marriage. HOw do you > keep up. > > Nicky Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2005 Report Share Posted January 22, 2005 Hey Nicky, Were also somewhat new to all this, we only got final confirmation of s diagnosis yesterday although he got sick for the first time a year ago yesterday (appropriate timing). turned 2 in December, and like you I knew something was wrong well before anyone else... last January he got sick and they insisted it was a viral problem... in May I finally pushed enough to get them to do more testing, and the tests showed something was up (lactic acidosis, low carnatine, low blood sugar, and a bunch of other issues) thye did a biosy in October and it came back this week showing he has a Complex 1 Deficiency. All in all is quite healthy considering... hes is severly speech delayed and doesnt talk, although he has learned over 50 signs now, so is very communicative. His hearing screen came back ok, but they werent able to do a very thorough one as he didnt want to cooperate, though at this time we dont have any concerns about his hearing. As for your questions, our life has been completely changed by all this... my hopes for have completely shifted, I dont take much for granted anymore, Our life has been taken over by medical bills, doctors appointments, speech and physio therapy, pain control, avoiding viruses, and all the while trying to make sure he has a fun time in it all... but in the end we do have alot of fun... i think we appreciate the smaller things more than most families do, because we know how fragile it all is. Feeling out of control? oh yea. the last year has been like a roller coaster ride. everytime he would get the sniffles I would wonder 'what will this turn into??' this summer he had a temp of 101 when we got on a plane in minneapolis, an hour later we got off the plane in Winnipeg and his temp was 107... i mean what do you do in an airport with no tylenol or motrin, and a baby with a temp of 107??? I freaked out in customs (thank goodness they got us through fast as the linup was over an hour otherwise)! not only having to learn about this diagnosis, but taking it upon myself to have to explain it all to the ER doctor when hes sick... who more often than not doesnt appreciate being taught something by a parent. Control is NOT something that goes hand in hand with sick children... I dont imagine your the only one with a strained marriage... sick kids are extremely difficult on couples, especially when both partners deal with this sort of thing differently. My husband likes to pretend everythings fine, while I like to hash out every little detail. this has made it difficult on both of us, as I want to talk about it and he wants to ignore it. But at the same time I have found that its really nice to buy into his point of view sometimes, and pretend life is peachy... likewise he occasionally likes to have 'crash courses' on whats happening, since im primarily the one that takes to doc appointment. I make sure he is there for the pivotal appointments (the ones we get results at and such), but other than that he usually has to work on appt days. (this also makes it easier for him to imagine everythings fine). I thought at first that he didnt care about all of it that much, but over time i realised its just his way of dealing with it, even if it is opposite to teh way i deal with it... How do I keep up? I dont. lol! in all of this im 9 months pregnant right now, so getting through the day in once piece with a happy, well fed child is the only major priority of mine... As for his needs, they change daily, one day he will need 2 naps, the next he needs 1, one night he needs to go to bed at 6, the next night its 8... one day hes up at 6, the next its 9... some days his blood sugar is low and he needs to snack constantly, other days his sugar is fine... some days his legs hurt and he needs to spend lots of time in his high chair, other days his legs are fine... some days hes shakey, otehrs hes not... you get the point... ive figured out that the best way to keep myself sane is to stop trying to predict what kind of a day it will be, and let him call the shots... I never know what he will need, or how he will be feeling (and how that will jibe with how im doing, as i have my own health problems to deal with in all this) until the time comes, so trying to make solid plans is a frustrating thing. Anyawys, i wasnt meaning to come of as whiney, just realistic... in spite of all that we really do have alot of fun... granted lately were pretty slowed down, that has more to do with this baby on the way than anything... Welcome to the group, im sure your going to find everyone here a huge help, theres nothing better than talking to a group of people who honestly DO know exactly how you feel... makes it all a little less scary. Keely (mom to , 2, Complex 1 deficiency) > > > Hi, I new to post to this group. I have a son who is 2.5 yrs. > diagnosed with pyruvate dehydrogen. deficiency. He was diagnosed at > 7 mos. I knew there was something wrong at 3 mos.. I am an > audiologist and my son with diagnosed with a progressive hearing > loss at 6 weeks. As an infant, he screamed all day long. He had > severe head lag. I knew there was something wrong with him. I asked > to see a neurologist at 4 mos. They also thought due to the > progressive nature of his hearing loss that there was something > genetically wrong. They did a ton of labs. Found that he had > severe lactate acidosis. He immediately was put on DCA. Which > revealed a significant improvement. No increased acidosis. His is > now 2, Isaiah is the happiest boy ever. He has a g-tube, deaf (with > a cochlear implant), doesn't sit up, still with poor head control. > He is such a wild man. He rolls all over. We are so glad to be > blessed with him. > > I guess my question is for parents with these sick kids. How has > your life been affected by this. Do you sometimes feel out of > control. Am I the only on that has a strained marriage. HOw do you > keep up. > > Nicky Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2005 Report Share Posted January 22, 2005 Hi Nicky, and welcome, I knew from day one something was wrong with my son Matt, the only time he didnt cry and scream is when he was untouched and in absolute quiet. I left my husband when Matt was just 2 months old, and thank God he has nothing to do with us at all. I am remarried to a wonderful man who no one would ever believe wasnt the biological father of all my children. He is there through thick and thin expecially with Matt. I think any illness can be a strain on marriages and families. You just have to work as a team and remember that everyone handles things differently and you have to respect that in one another, kinda agree to disagree, but you must still meet in the middle when it comes to caring for the child, no matter how different the aproach. And it takes awhile to get a system going as far as siblings and husband, but with patience and time things do fall into place, and somehow just to start running somewhat smoothly again. Although our household is not normal to most, when we started being organized with all the medical equip, and doc appts., and such, this has become just as routine a life as anyone elses. Sure there are days that are hard and unorganized, i make sure i get a good cry in, and then some rest and then get on with things again. I also have mito adult onset, and i would have never believed anyone telling me when i first became ill that things would get back to " normal " , but to my surprise even on my worse days, i get through that day, i am blessed with a supportive husband and my other two children are 19 and 22 years of age, so they are a big big help, dont think i could do it without thier love and support. And even when other family members dont understand or cant handle what goes on, i always have this group to turn to and that has made a big difference in the way i deal with things too. Hang in there, and hang out here at this group you will find the support you need, and answers too. Barb Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2005 Report Share Posted January 22, 2005 Hi Nicky, and welcome, I knew from day one something was wrong with my son Matt, the only time he didnt cry and scream is when he was untouched and in absolute quiet. I left my husband when Matt was just 2 months old, and thank God he has nothing to do with us at all. I am remarried to a wonderful man who no one would ever believe wasnt the biological father of all my children. He is there through thick and thin expecially with Matt. I think any illness can be a strain on marriages and families. You just have to work as a team and remember that everyone handles things differently and you have to respect that in one another, kinda agree to disagree, but you must still meet in the middle when it comes to caring for the child, no matter how different the aproach. And it takes awhile to get a system going as far as siblings and husband, but with patience and time things do fall into place, and somehow just to start running somewhat smoothly again. Although our household is not normal to most, when we started being organized with all the medical equip, and doc appts., and such, this has become just as routine a life as anyone elses. Sure there are days that are hard and unorganized, i make sure i get a good cry in, and then some rest and then get on with things again. I also have mito adult onset, and i would have never believed anyone telling me when i first became ill that things would get back to " normal " , but to my surprise even on my worse days, i get through that day, i am blessed with a supportive husband and my other two children are 19 and 22 years of age, so they are a big big help, dont think i could do it without thier love and support. And even when other family members dont understand or cant handle what goes on, i always have this group to turn to and that has made a big difference in the way i deal with things too. Hang in there, and hang out here at this group you will find the support you need, and answers too. Barb Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2005 Report Share Posted January 22, 2005 My son's story is very similar to yours. is now 3.5 and just started to take his first steps in a walker. Around age 2.5 he started scooted everywhere and then by age 3 he started to sit up and now can take a few steps with a walker -- it's hard to keep up with it sometimes. was also diagnosed with profound bilateral sensorineural hearing loss by 3 months of age and his implant was put in at 7 months. Even with his implant would get tired of hearing and want it off by lunch time. By the time he was two it was no longer working for us. The audiologist would reprogram the implant but no matter what they would try the result was the same -- no response. I convinced the doctor's to explant him and perform a MRI. We soon discovered that 's PONS is malformed (almost a molar tooth sign) and that CN VIII was no longer active. So now we use sign language to communicate with . My husband was devastated at first. He didn't want anything to do with our disabled son, but he soon decided to pitch in. Now, he cooks, cleans, stays home with and gives me a break. He even lets me take our daughter on vacation without him and ! I don't know what I would do without him around. Sue Ann Bube son with mito Hi, I new to post to this group. I have a son who is 2.5 yrs. diagnosed with pyruvate dehydrogen. deficiency. He was diagnosed at 7 mos. I knew there was something wrong at 3 mos.. I am an audiologist and my son with diagnosed with a progressive hearing loss at 6 weeks. As an infant, he screamed all day long. He had severe head lag. I knew there was something wrong with him. I asked to see a neurologist at 4 mos. They also thought due to the progressive nature of his hearing loss that there was something genetically wrong. They did a ton of labs. Found that he had severe lactate acidosis. He immediately was put on DCA. Which revealed a significant improvement. No increased acidosis. His is now 2, Isaiah is the happiest boy ever. He has a g-tube, deaf (with a cochlear implant), doesn't sit up, still with poor head control. He is such a wild man. He rolls all over. We are so glad to be blessed with him. I guess my question is for parents with these sick kids. How has your life been affected by this. Do you sometimes feel out of control. Am I the only on that has a strained marriage. HOw do you keep up. Nicky Please contact mito-owner with any problems or questions. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 22, 2005 Report Share Posted January 22, 2005 > I guess my question is for parents with these sick kids. How has > your life been affected by this. Do you sometimes feel out of > control. Am I the only on that has a strained marriage. HOw do you > keep up. > My 2year old (lea) was diagnosed at 7mos old with partial complex one. She still has low muscle tone, but it has increased through use of the mito cocktail. She still isn't walking, although we are hopeful that she will one day take her first steps.... She gets around by scooting on her butt- and she can move fast too! It's the cutest thing. there's a little girl at church who is the same age as our Lea- and of course she's been walking now for more then a year. Anyway, a couple weeks ago during bible study Lea was scooting around the room on her butt... and this other little girl sat down next to her and started scooting around beside her. It was so sweet... brought tears to my eyes. Anyway... this disease has forever changed our lives. We feel blessed to have Lea and all 6 of her healthy siblings... yet sometimes when I look at her I wonder why SHE was chosen to have this. Our youngest baby is 5 1/2 weeks old and I feel like i cannot relax and enjoy her baby-hood because I'm always watching and waiting to find out if she has it too. le Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 23, 2005 Report Share Posted January 23, 2005 Our life changed dramatically after Asenath became affected and then again after we knew Zipporrah too was affected. We entered into the Mito realm in a hard way with intense migraines and a major stroke paralyzing Asenath's left side when she was still a toddler. We had to learn to take it day by day and just try the best we could to provide for her needs, while at the same time dealing with the stress of knowing we weren't able to stop her pain and suffering. We went from having no meds regularly other than asthmatic ones, to 12 meds for Asenath and 5 meds for Zipporrah given up to three times daily for some of them. I have had to start going to Mayo on a regular basis to see tons of specialists, started having therapy (SP/cog, OT, PT) for three different children, needing leg braces for two, a wheelchair for one, and tons of other changes. Like any marriage we have our good days and our bad days, but we have been able to pull together rather than apart when things get rough so we are doing good. My husband has never been one to deny something is wrong and always wants to be informed and a part of the med visits and treatment plans. In the past half of a year he has had to stop going to doc visits due to his job and the fact that when I go to Mayo it often ends up being a 4-5 day run at minimum (something I am hoping to lessen). The way I keep up is to relax my expectations knowing I am not a super-mom and getting accomplished what needs to be done, but after that not stressing about what I unnecessary things I accomplish. There are days that I seem to have to talk to way too many docs, order too many meds, give asthma treatments and steam shower treatments, etc., but I always know that each day is different and tomorrow may be better. I have found that a cheerful attitude goes a long way toward feeling better, more in control, and less flustered/crazy. We all have our coping mechanisms and have our good days and our bad days. Don't feel down when you feel overwhelmed. All of us get that way and need a break. We are just moms (and a few dads and grandmas) trying to care for our kids the best way we can, and sometimes it just wears us out. Hope you are feeling more energized and positive today. See www.caringbridge.org/ia/mitomomof9 and www.heartbeatsformito.org to see a photo look into what Mito looks like Darla: mommy to Asenath (4) Mito, CNS Vasculitis, strokes, migraines, seizures, G-tube, hypotonicity, disautonomy, SID, global delays, asthma, cyclic vomiting, bladder issues, wheelchair for distances, eye issues, autistic behaviors, gastric emptying issues... Zipporrah (14 months) Mito, strokes, neuro-motor planning dys., SID, GERD, dysphasia, 100% G-tube fed, speech delays, extreme fatigue, excessive phlegm, asthma, trach issues, aberrant subclavian artery, disautonomy, hypertonicity, migraines, possible seizures, dumping syndrome, iron deficiency, ... Luke (16), Leah (14), Rachael (13), Isaac (10), Tirzah (8), Kezia (4), & Marquis (3), Joey & (12 months) (some with Mito symptoms) son with mito > > > > Hi, I new to post to this group. I have a son who is 2.5 yrs. > diagnosed with pyruvate dehydrogen. deficiency. He was diagnosed at > 7 mos. I knew there was something wrong at 3 mos.. I am an > audiologist and my son with diagnosed with a progressive hearing > loss at 6 weeks. As an infant, he screamed all day long. He had > severe head lag. I knew there was something wrong with him. I asked > to see a neurologist at 4 mos. They also thought due to the > progressive nature of his hearing loss that there was something > genetically wrong. They did a ton of labs. Found that he had > severe lactate acidosis. He immediately was put on DCA. Which > revealed a significant improvement. No increased acidosis. His is > now 2, Isaiah is the happiest boy ever. He has a g-tube, deaf (with > a cochlear implant), doesn't sit up, still with poor head control. > He is such a wild man. He rolls all over. We are so glad to be > blessed with him. > > I guess my question is for parents with these sick kids. How has > your life been affected by this. Do you sometimes feel out of > control. Am I the only on that has a strained marriage. HOw do you > keep up. > > Nicky > > > > > > > > > > Please contact mito-owner with any problems or questions. > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 28, 2005 Report Share Posted January 28, 2005 It looks like I somehow missed your message to the mito group, sorry. My son is 3 1/4 and also has PDH deficiency. Where do you live? We are in upstate NY. Sheldon can walk but cannot talk. He seems to hear fine but has sensory issues. He can't say any words. I'd love to talk with someone else with PDH def. Is your son on a special diet? Sheldon is also very happy as long as he's not sick or in pain. I definitely feel like we have no control. Hi, I new to post to this group. I have a son who is 2.5 yrs. diagnosed with pyruvate dehydrogen. deficiency. He was diagnosed at 7 mos. I knew there was something wrong at 3 mos.. I am an audiologist and my son with diagnosed with a progressive hearing loss at 6 weeks. As an infant, he screamed all day long. He had severe head lag. I knew there was something wrong with him. I asked to see a neurologist at 4 mos. They also thought due to the progressive nature of his hearing loss that there was something genetically wrong. They did a ton of labs. Found that he had severe lactate acidosis. He immediately was put on DCA. Which revealed a significant improvement. No increased acidosis. His is now 2, Isaiah is the happiest boy ever. He has a g-tube, deaf (with a cochlear implant), doesn't sit up, still with poor head control. He is such a wild man. He rolls all over. We are so glad to be blessed with him. I guess my question is for parents with these sick kids. How has your life been affected by this. Do you sometimes feel out of control. Am I the only on that has a strained marriage. HOw do you keep up. Nicky Please contact mito-owner with any problems or questions. Quote Link to comment Share on other sites More sharing options...
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