Michael has been sick this week. There's nothing like one of your children having a sore throat and a fever to put you into near hysterics. Your heart starts to pound, you get a little short of breath and your mind starts racing. "What now? How long before he goes to the hospital?" All of these thoughts in your mind as you push fluids and treat the fever, wondering when to take him to the doctor.
I took him on Wednesday morning. He was strep and flu tested and they both came back negative. Good, but also kind of annoying. The doctor declared this a virus and told us to bring him back if he got worse. Ok, so when's he going to get better? Don't get me wrong, I don't want him to have strep. But at least if he did, we'd know in a day or two that he was getting better because he'd have antibiotics to fight the bacteria. Viruses are less predictable.
Today Michael is running around a bit. Well, alternating between running around and laying on the couch resting. He's got to rest, get his strength back. Too much exertion when his body is still fighting whatever virus this is and then he's in the hospital.
Some days there's not much pause from the worrying.
On a different note, Nathan had his follow up with the cardiologist today. They did pulmonary function testing and a cardiac stress test. He passed them both! Hooray! His heart is all good and we are quite relieved. Now if we can get the migraines figured out we'll be in good shape. He's on topamax now and sees the neurologist again next week.
Friday, October 11, 2013
Wednesday, September 18, 2013
Confirmation
Today I got word from the Oregon Health & Science University that we are confirmed to participate in a clinical study! We go at the beginning of next year. It's pretty exciting and scary all at the same time. Both kids will participate but only one at a time. There are a lot of tests involved, blood draws, urine collection, exercise, etc. They show us how to use the supplement they are studying.
Currently, the kids can use MCT (medium chain triglyceride) oil as a supplement since their bodies can utilize the medium chain fats. This other oil, C7 or triheptanoin, is being tested to see if it works better than MCT. Either way, the kids will get a supplement that will benefit them. After that rotten trip to the pool, I am definitely happy to try something else!
In the meantime, school is in full swing for all of us. I've got a 96.5 in my communications class currently so that is a good start. Michael has gotten an in school suspension but Ariella's been fine so far. Nathan is liking his classes and I've been approved for FMLA for him as well so I can bring him to his multitude of appointments without my job being at risk. So far, so good! We'll keep plugging away here...
Currently, the kids can use MCT (medium chain triglyceride) oil as a supplement since their bodies can utilize the medium chain fats. This other oil, C7 or triheptanoin, is being tested to see if it works better than MCT. Either way, the kids will get a supplement that will benefit them. After that rotten trip to the pool, I am definitely happy to try something else!
In the meantime, school is in full swing for all of us. I've got a 96.5 in my communications class currently so that is a good start. Michael has gotten an in school suspension but Ariella's been fine so far. Nathan is liking his classes and I've been approved for FMLA for him as well so I can bring him to his multitude of appointments without my job being at risk. So far, so good! We'll keep plugging away here...
Monday, September 2, 2013
Hating the way it is
Saturday afternoon I took my two CPT 2-ers to the pool. They love to swim. They've gotten so they're like little fishes in the water and that is a beautiful sight to behold. Michael especially, who was so afraid of getting his head wet, is now doing cannonballs and pencil dives and somersaults forward and backward. He taught himself all of this. Why, I'm not sure. Perhaps he just decided to conquer his fear. He needed no prompting from me, he just decided to jump in and hasn't looked back.
When I bring the kids to the pool I make sure they've got several snacks and pull them out every twenty minutes or so to have the snack. Then they can get back in the water for more fun. The pool wears them out fast. For any other kid, that would be great for their parents. Wear them out, then they'll go home and nap. For these kids, not so much.
Saturday started off like a regular trip to the pool. We were there a total of about an hour. They had brought three snacks apiece and were having a great time. I pulled them out for their first snack and then they both went back in. About ten minutes later, Michael came to me hobbling saying his legs hurt and he really needed the bathroom. I helped him get in there and he couldn't get up from the toilet. He was in too much pain. I went and got his things and had his sister get out of the pool. She was ok. Michael could barely stand up without assistance so I got him dried off and dressed and carried him to the car. The whole time I was walking out there he was so upset. He kept saying "I hate CP 2!!" He was upset he was in pain, he was upset he had to get out of the pool and be carried and he was upset his sister didn't have the same pain he had. I don't want either one of them to be in pain but I understand where he's coming from. I hate it too.
I asked him again about participating in the research study through OSHU in Portland, Oregon. He said he'd do it. If it makes it so he might not have this pain anymore, he is willing to try. Now just to schedule the time and get out there. It won't be for a while, yet as the research team is going to try to schedule around the kids' school vacations. I am hopeful this will provide us with answers and that his future will be better, as well as his sister's. They both deserve nothing but the best, that's for sure.
When I bring the kids to the pool I make sure they've got several snacks and pull them out every twenty minutes or so to have the snack. Then they can get back in the water for more fun. The pool wears them out fast. For any other kid, that would be great for their parents. Wear them out, then they'll go home and nap. For these kids, not so much.
Saturday started off like a regular trip to the pool. We were there a total of about an hour. They had brought three snacks apiece and were having a great time. I pulled them out for their first snack and then they both went back in. About ten minutes later, Michael came to me hobbling saying his legs hurt and he really needed the bathroom. I helped him get in there and he couldn't get up from the toilet. He was in too much pain. I went and got his things and had his sister get out of the pool. She was ok. Michael could barely stand up without assistance so I got him dried off and dressed and carried him to the car. The whole time I was walking out there he was so upset. He kept saying "I hate CP 2!!" He was upset he was in pain, he was upset he had to get out of the pool and be carried and he was upset his sister didn't have the same pain he had. I don't want either one of them to be in pain but I understand where he's coming from. I hate it too.
I asked him again about participating in the research study through OSHU in Portland, Oregon. He said he'd do it. If it makes it so he might not have this pain anymore, he is willing to try. Now just to schedule the time and get out there. It won't be for a while, yet as the research team is going to try to schedule around the kids' school vacations. I am hopeful this will provide us with answers and that his future will be better, as well as his sister's. They both deserve nothing but the best, that's for sure.
Saturday, August 17, 2013
A busy summer almost at an end
I can't believe the summer has passed by so quickly!! I haven't posted in two months. But then, I've barely had time to breathe so I guess that makes sense. In 1 1/2 weeks the children start school again, as do I. Then what has been a busy summer will morph into an insane school year. My CPT 2'ers don't have to see the doctor again until December so that is good. Here's hoping for no complications that put them in the hospital. We've been doing pretty well lately!
The little ones love to swim. We go to the pool as much as we can, which is usually two or three times a week. Since they're only with me 1/2 the week that's pretty good. :) I have them bring snacks with them as well as a drink so they don't get too worn out. Pulling them out every twenty minutes seems to do the trick. If they don't have the snacks, I am carrying them out to the car and the parking lot is VERY far away from the pool building! I'd rather avoid that...these two are getting heavy. They're each around 65 pounds.
I did make some homemade 'gatorade' for the kids a few weeks ago. It was pretty good! I used a basic recipe with herbal tea, Himalayan sea salt, potassium chloride ('no salt'), honey and lemon juice. It tastes just like the herbal tea so the kids drank it down no problem. All three of them liked it so that was a bonus. We did, however, learn an important lesson about the shelf stability of honey compared with high fructose corn syrup. Honey, when left in a liquid, sealed in a bottle and exposed to heat and light not only breaks down the plastic on the outside of the bottle, it also builds pressure inside the bottle causing it to expand. When the bottle is in this state and you attempt to open it to pour the obviously spent and fermented drink down the drain, please don't point it at anyone. And wear earplugs. Maybe some eye protection too. Nathan opened the first bottle and the cap flew off, breaking into a couple of pieces. Smoke rose from the bottle and the explosive sound make me scream and jump. When we realized what happened we both started laughing. Then I thought...we could use these for exploding targets for shooting practice. I'll have to try that out another time. :)
Nathan finally had his cardiology and neurology appointments. The good news: nothing is structurally wrong with his heart. The not so good news: they're not sure why he is having the symptoms he's having. The cardiologist gave him a patch monitor. It's like an ekg that sticks to your chest and you wear it up to two weeks. Pretty genius and better than a Holter monitor, which you cannot get wet. You can't immerse the patch monitor but you can shower with it. The poor kid would go nuts if he couldn't shower for a week or two. He kept the monitor on for a week 'til it drove him nuts. Then we sent it back. We are still waiting to hear about a cardiac stress test. That hasn't been scheduled yet and is the next step of the process. He may also have to do pulmonary function tests just to be sure his lungs are functioning properly. In the meantime he continues to have chest pain, shortness of breath, dizziness and palpitations. Now...for neurology. The neurologist took Nathan off the propranolol he was taking for his headaches. And after reading a report from psych, who had to evaluate him to rule out underlying mental health concerns before neuro would medically treat the headaches, the doctor was determined not to prescribe him the medications she had originally indicated as beneficial. Because he's depressed. I had hoped that getting his thyroid under control would help but it hasn't. Back to the drawing board. We will treat the depression, re-evaluate and see if the headaches are caused by the mood issues. If the headaches persist, then on to another medication. Nathan's getting pretty damned sick and tired of taking pills and I don't really blame him!! It's a lot for a 16 year old to deal with. And now that he's off the one med that was helping his headaches (even if just marginally), they're getting pretty bad again. I was hoping to have all this ironed out before he started school again but this is not the case. The neurologist did praise Nathan quite nicely about his efforts to reduce stress in his life and do what he can to alleviate his depression. It really made him feel good. So he left neuro somewhat more upbeat while I was just devastated. I am absolutely helpless here. I can fight for him, but I can't make him better. I'll try but it's up to him and the doctors. I've at least gotten his living situation changed so he is with me full time and that makes him much happier. He's got a job he enjoys and gets to spend time with his friends on his days off. And he does things around the house for me with little to no whining. (Most of the time)
One other development is the potential inclusion of Ariella and Michael in a clinical trial at OSHU in Portland, Oregon. The papers are almost filled out and ready to submit. Ariella's ready but I'm not sure how Michael feels about it. It involves two trips to Oregon for each child for four days, three nights, all expenses paid for all of us. It's a pretty neat opportunity. I see many clinical trials in their future with the rarity of their disease.
Onward and upward, we keep moving forward a little at a time.
The little ones love to swim. We go to the pool as much as we can, which is usually two or three times a week. Since they're only with me 1/2 the week that's pretty good. :) I have them bring snacks with them as well as a drink so they don't get too worn out. Pulling them out every twenty minutes seems to do the trick. If they don't have the snacks, I am carrying them out to the car and the parking lot is VERY far away from the pool building! I'd rather avoid that...these two are getting heavy. They're each around 65 pounds.
I did make some homemade 'gatorade' for the kids a few weeks ago. It was pretty good! I used a basic recipe with herbal tea, Himalayan sea salt, potassium chloride ('no salt'), honey and lemon juice. It tastes just like the herbal tea so the kids drank it down no problem. All three of them liked it so that was a bonus. We did, however, learn an important lesson about the shelf stability of honey compared with high fructose corn syrup. Honey, when left in a liquid, sealed in a bottle and exposed to heat and light not only breaks down the plastic on the outside of the bottle, it also builds pressure inside the bottle causing it to expand. When the bottle is in this state and you attempt to open it to pour the obviously spent and fermented drink down the drain, please don't point it at anyone. And wear earplugs. Maybe some eye protection too. Nathan opened the first bottle and the cap flew off, breaking into a couple of pieces. Smoke rose from the bottle and the explosive sound make me scream and jump. When we realized what happened we both started laughing. Then I thought...we could use these for exploding targets for shooting practice. I'll have to try that out another time. :)
Nathan finally had his cardiology and neurology appointments. The good news: nothing is structurally wrong with his heart. The not so good news: they're not sure why he is having the symptoms he's having. The cardiologist gave him a patch monitor. It's like an ekg that sticks to your chest and you wear it up to two weeks. Pretty genius and better than a Holter monitor, which you cannot get wet. You can't immerse the patch monitor but you can shower with it. The poor kid would go nuts if he couldn't shower for a week or two. He kept the monitor on for a week 'til it drove him nuts. Then we sent it back. We are still waiting to hear about a cardiac stress test. That hasn't been scheduled yet and is the next step of the process. He may also have to do pulmonary function tests just to be sure his lungs are functioning properly. In the meantime he continues to have chest pain, shortness of breath, dizziness and palpitations. Now...for neurology. The neurologist took Nathan off the propranolol he was taking for his headaches. And after reading a report from psych, who had to evaluate him to rule out underlying mental health concerns before neuro would medically treat the headaches, the doctor was determined not to prescribe him the medications she had originally indicated as beneficial. Because he's depressed. I had hoped that getting his thyroid under control would help but it hasn't. Back to the drawing board. We will treat the depression, re-evaluate and see if the headaches are caused by the mood issues. If the headaches persist, then on to another medication. Nathan's getting pretty damned sick and tired of taking pills and I don't really blame him!! It's a lot for a 16 year old to deal with. And now that he's off the one med that was helping his headaches (even if just marginally), they're getting pretty bad again. I was hoping to have all this ironed out before he started school again but this is not the case. The neurologist did praise Nathan quite nicely about his efforts to reduce stress in his life and do what he can to alleviate his depression. It really made him feel good. So he left neuro somewhat more upbeat while I was just devastated. I am absolutely helpless here. I can fight for him, but I can't make him better. I'll try but it's up to him and the doctors. I've at least gotten his living situation changed so he is with me full time and that makes him much happier. He's got a job he enjoys and gets to spend time with his friends on his days off. And he does things around the house for me with little to no whining. (Most of the time)
One other development is the potential inclusion of Ariella and Michael in a clinical trial at OSHU in Portland, Oregon. The papers are almost filled out and ready to submit. Ariella's ready but I'm not sure how Michael feels about it. It involves two trips to Oregon for each child for four days, three nights, all expenses paid for all of us. It's a pretty neat opportunity. I see many clinical trials in their future with the rarity of their disease.
Onward and upward, we keep moving forward a little at a time.
Sunday, June 30, 2013
Summertime is finally here
So here it is, a couple of weeks after school let out. So far the children are managing well in the heat. The 'dog days' of summer can be pretty difficult for them so their father and I are always on high alert with any activity. For example, this past week has seen a lot of 90+ degree days here in VT. That's not unusual at all. The children's father kept them inside every day that it was super hot and humid. They want to go play outside but they often forget to hydrate enough when they get too involved in playing with their friends. Last summer, Michael ended up at the hospital overnight when he experienced leg pain after being outside running around for most of the day. He had over a quart of Gatorade but didn't eat much because he wasn't too interested in food. It was another learning experience. And now Gatorade has developed these gummy chews that are 100 calories and contain B vitamins and electrolytes. If the kids don't want to eat, they can eat least chew on those and that gives us some peace of mind.
I am going to start looking into making our own electrolyte solutions. The ones we buy are full of artificial colors, flavors and high fructose corn syrup. Perhaps they don't really bother the children at this point but with the amount they drink, eventually those additives are going to catch up with them. And with natural gelatin, perhaps I can make them some of their own 'gummy' chews as well. Definitely worth investigating...
In the meantime, the children (all three) are managing ok this summer. It is still my oldest, unaffected child Nathan who I remain the most worried about. His headaches continue and he has been having heart palpitations and shortness of breath when he exerts himself. He sees a cardiologist in August to determine if he has the rare Wolff-Parkinson-White syndrome that his grandmother has. It can be hereditary and with the amount of 'luck' my children have had at this point, it seems a likely possibility. I really hope that isn't the issue but at the same time it would explain why such a healthy, fit boy can have so many troubles. It's definitely not asthma or allergies causing his shortness of breath.
I have found through all of this, with all of the children how important it is to be an advocate. A mother bear. A bull. A major pain in the ass. Doctors have many patients. I have three children. It is my job to guide and protect them and make sure they receive the medical care they need despite what the doctors say.
This summer is full of doctor's appointments. July starts off with my own! I am finally getting my own DNA testing to see if I am not only a carrier but also have CPT 2 deficiency as two of my children do. It is also good to find out for Nathan as well as myself. If I have the disease, than Nathan is a carrier without a doubt. If I don't, then Nathan has a 50% chance of being a carrier. He really wants to know if this disease is going to affect HIS life and it will be good to get answers for him as well as for myself.
And other than that, our goal this summer is to have fun and keep the kiddos out of the hospital. Here's hoping! :)
I am going to start looking into making our own electrolyte solutions. The ones we buy are full of artificial colors, flavors and high fructose corn syrup. Perhaps they don't really bother the children at this point but with the amount they drink, eventually those additives are going to catch up with them. And with natural gelatin, perhaps I can make them some of their own 'gummy' chews as well. Definitely worth investigating...
In the meantime, the children (all three) are managing ok this summer. It is still my oldest, unaffected child Nathan who I remain the most worried about. His headaches continue and he has been having heart palpitations and shortness of breath when he exerts himself. He sees a cardiologist in August to determine if he has the rare Wolff-Parkinson-White syndrome that his grandmother has. It can be hereditary and with the amount of 'luck' my children have had at this point, it seems a likely possibility. I really hope that isn't the issue but at the same time it would explain why such a healthy, fit boy can have so many troubles. It's definitely not asthma or allergies causing his shortness of breath.
I have found through all of this, with all of the children how important it is to be an advocate. A mother bear. A bull. A major pain in the ass. Doctors have many patients. I have three children. It is my job to guide and protect them and make sure they receive the medical care they need despite what the doctors say.
This summer is full of doctor's appointments. July starts off with my own! I am finally getting my own DNA testing to see if I am not only a carrier but also have CPT 2 deficiency as two of my children do. It is also good to find out for Nathan as well as myself. If I have the disease, than Nathan is a carrier without a doubt. If I don't, then Nathan has a 50% chance of being a carrier. He really wants to know if this disease is going to affect HIS life and it will be good to get answers for him as well as for myself.
And other than that, our goal this summer is to have fun and keep the kiddos out of the hospital. Here's hoping! :)
Thursday, May 30, 2013
Some days just suck
My son is the most difficult about his diagnosis and frankly, I can't blame him. It is difficult to be the only child at school who can't eat certain foods or has to be careful about how much he runs around. It breaks my heart because he has to be so careful. It makes him angry and anxious about everything he does. I know he just wants to be like every other child but he just isn't. The blessing in disguise is that his sister is now diagnosed so at least he really isn't the only one. But he still doesn't deal with it well.
I am so tired today and all I want to do is go to sleep but it's after 9:30 and Michael is still awake. Being difficult and defiant as usual. Everything is my fault. He is tired, he is thirsty, he is hungry. He won't admit he is tired though so I pray that he wears himself out so I can go to bed too!
It's been a rough couple of days. Nothing profound here right now. Just tired and frustrated. Sometimes it is just too much.
I am so tired today and all I want to do is go to sleep but it's after 9:30 and Michael is still awake. Being difficult and defiant as usual. Everything is my fault. He is tired, he is thirsty, he is hungry. He won't admit he is tired though so I pray that he wears himself out so I can go to bed too!
It's been a rough couple of days. Nothing profound here right now. Just tired and frustrated. Sometimes it is just too much.
Tuesday, May 21, 2013
New Challenges
I swear if I didn't have some sort of outlet I would go insane. For the last nine months I've been dealing with one child with a known genetic disease. Then that morphed into two children with a known genetic disease. In the midst of testing my daughter for CPT 2, my oldest son has been going through some medical issues of his own. After eight months we are finally starting to get testing done so we have some answers. It's about damned time.
Nathan started having headaches last August. He would complain sometimes but for the most part kept the pain to himself. I encouraged him to take acetaminophen or ibuprofen but he said it didn't work. After a while of going through this with no relief, we went to the doctor. She said he needed to drink more water and avoid caffeine. In October or November, Nathan went to bed early and I stayed up to watch television. I realized after about 20 minutes that there was a noise that sounded like crying coming from his room. I went in and he was in the fetal position on his bed, clutching his head. I got my mom to come over to stay with my younger two who were sleeping and took Nathan to the local ER where he had an IV, labs were drawn and he was given pain medication. He felt better afterward.
We followed up with the pediatrician but she didn't seem concerned. She told him to take ibuprofen with a snack since he was having chest pain and sent us on our way.
A month went by and Nathan's headaches weren't getting better. He didn't want to see the same doctor again so I scheduled him with a different one. She prescribed amitriptyline and sent us away, not thinking anything of the chest pain. They did do x-rays which were normal.
A month later we were back for a follow up and the medicine wasn't working. The doctor switched him from amitriptyline to cyproheptadine. The first day he took it, he had to stay home from school because he couldn't wake up. The next day he had some strange symptoms which I wasn't sure about. He was disoriented, slurring his words, moving very slowly and acting like he didn't really know what was going on. Ok, done with that med! Another trip to the doctor yielded a prescription for propranolol. This one has helped, at least a little. He also got an MRI and a neurology consult. Eight months into the process.
Seeing the neurologist brought its own set of issues. The doctor ordered blood work which revealed an elevated TSH, or thyroid stimulating hormone. This hormone is secreted by the pituitary gland and tells the thyroid to do its job. Great. Next, an endocrinologist. He prescribed levothyroxine so Nathan is now taking that. The neurologist won't change Nathan's medication until he does a bunch of tests and sees other specialists in order to rule out potential underlying conditions that could be masked by the migraine treatment. An EEG was yesterday. More endocrinology blood work came back normal. That doctor suspects an autoimmune thyroid disease, Hashimoto's. We won't know until we test for antibodies, which will be in about five weeks.
This kid has been through enough. I have been through enough. I need a nap...as well as a vacation from Dartmouth-Hitchcock Medical Center!! (they are great though, I appreciate everything they are doing for all three of my children!)
Nathan started having headaches last August. He would complain sometimes but for the most part kept the pain to himself. I encouraged him to take acetaminophen or ibuprofen but he said it didn't work. After a while of going through this with no relief, we went to the doctor. She said he needed to drink more water and avoid caffeine. In October or November, Nathan went to bed early and I stayed up to watch television. I realized after about 20 minutes that there was a noise that sounded like crying coming from his room. I went in and he was in the fetal position on his bed, clutching his head. I got my mom to come over to stay with my younger two who were sleeping and took Nathan to the local ER where he had an IV, labs were drawn and he was given pain medication. He felt better afterward.
We followed up with the pediatrician but she didn't seem concerned. She told him to take ibuprofen with a snack since he was having chest pain and sent us on our way.
A month went by and Nathan's headaches weren't getting better. He didn't want to see the same doctor again so I scheduled him with a different one. She prescribed amitriptyline and sent us away, not thinking anything of the chest pain. They did do x-rays which were normal.
A month later we were back for a follow up and the medicine wasn't working. The doctor switched him from amitriptyline to cyproheptadine. The first day he took it, he had to stay home from school because he couldn't wake up. The next day he had some strange symptoms which I wasn't sure about. He was disoriented, slurring his words, moving very slowly and acting like he didn't really know what was going on. Ok, done with that med! Another trip to the doctor yielded a prescription for propranolol. This one has helped, at least a little. He also got an MRI and a neurology consult. Eight months into the process.
Seeing the neurologist brought its own set of issues. The doctor ordered blood work which revealed an elevated TSH, or thyroid stimulating hormone. This hormone is secreted by the pituitary gland and tells the thyroid to do its job. Great. Next, an endocrinologist. He prescribed levothyroxine so Nathan is now taking that. The neurologist won't change Nathan's medication until he does a bunch of tests and sees other specialists in order to rule out potential underlying conditions that could be masked by the migraine treatment. An EEG was yesterday. More endocrinology blood work came back normal. That doctor suspects an autoimmune thyroid disease, Hashimoto's. We won't know until we test for antibodies, which will be in about five weeks.
This kid has been through enough. I have been through enough. I need a nap...as well as a vacation from Dartmouth-Hitchcock Medical Center!! (they are great though, I appreciate everything they are doing for all three of my children!)
Sunday, May 19, 2013
Amazing genetics
You'll have to note that my title is written with a bit of sarcasm, which is something I always have in abundance. With all three of my children, genetics plays a role in their health, as it does for everyone. My CPT 2 kids though, they get to be extra special. CPT 2 deficiency has an autosomal recessive inheritance. What that means is that two people have to be carriers for the deficiency and then both of their carrier genes get passed along to their child, creating the active disease. So in an autosomal recessive pattern, these two children each had a 25% chance of no carrier gene and being completely unaffected. They also had a 50% chance of being a carrier. Then a 25% chance of actually having the disease. And they both have it. I knew we should have bought a Powerball ticket!!! My oldest son has a different biological parent so he has a 25% chance of being a carrier, and a 75% chance of being completely unaffected. (That's assuming that I am only a carrier, which we have yet to determine.)
Now, if there comes a time where you are reading this and feel that maybe you or one of your children may be affected by this incredibly rare illness, fight for the testing. Get it done! Make sure people listen to you. With the brief genetic explanation I've given above, it can be seen that being male or female does not affect your ability to have this disease. There are sex-linked traits out there, like hemophilia and male pattern baldness, but this is NOT one of them. It's a 25% shot, male or female. I say this because one of the first specialists I talked to when I wanted to be tested myself said not to bother because 80% of the people diagnosed were male. And that I shouldn't bother to have my daughter tested either because it was not likely she had it. Well, that doctor was wrong and I knew it then. I am thankful that he wasn't in charge of my children's care and I was able to get my daughter tested! Now both of my CPT 2 kids have a plan in place for emergencies, they have a 504 at school to deal with their health needs and they are adjusting to a low fat, high carb diet. They do get pretty pissy about it when they can't go to McDonald's but that's not the best place for them to be no matter what! They do enjoy what I feed them and I make them chicken nuggets from scratch with panko bread crumbs, MCT oil and seasonings. Then they are baked in the oven so they are nice and crispy and have MUCH less fat. Makes them happy and makes me happier. :)
Now, if there comes a time where you are reading this and feel that maybe you or one of your children may be affected by this incredibly rare illness, fight for the testing. Get it done! Make sure people listen to you. With the brief genetic explanation I've given above, it can be seen that being male or female does not affect your ability to have this disease. There are sex-linked traits out there, like hemophilia and male pattern baldness, but this is NOT one of them. It's a 25% shot, male or female. I say this because one of the first specialists I talked to when I wanted to be tested myself said not to bother because 80% of the people diagnosed were male. And that I shouldn't bother to have my daughter tested either because it was not likely she had it. Well, that doctor was wrong and I knew it then. I am thankful that he wasn't in charge of my children's care and I was able to get my daughter tested! Now both of my CPT 2 kids have a plan in place for emergencies, they have a 504 at school to deal with their health needs and they are adjusting to a low fat, high carb diet. They do get pretty pissy about it when they can't go to McDonald's but that's not the best place for them to be no matter what! They do enjoy what I feed them and I make them chicken nuggets from scratch with panko bread crumbs, MCT oil and seasonings. Then they are baked in the oven so they are nice and crispy and have MUCH less fat. Makes them happy and makes me happier. :)
Saturday, May 18, 2013
How did I get here?
You know when you plan to have children, no matter what age you are, and you think, "I don't care if I have a boy or girl, as long as it is healthy"? I felt that way and up until a year and a half ago, thought I had managed to do just that. I have three incredible, beautiful children. At the time I write this, they are 8, 10 and 15. They are the light of my life, the apples of my eye. They bring joy and happiness to all who meet them. And yes, I include my teenage son in that description! He is an amazing boy; all three children are great. We have our challenges though.
My two younger children, Michael (8) and Ariella (10) have been diagnosed with something called CPT 2 deficiency. That stands for Carnitine palmitoyltransferase type 2 deficiency. So...what is that? Well, how much do you remember from Biology or Anatomy & Physiology with the anatomy and function of the cell?
Mitochondria are the furnaces of the cell. They take broken down pieces from our food and turn them into energy, called ATP. On the mitochondrial cell membranes there are two enzymes responsible for transporting long chain triglycerides (fat) into the cells. One is CPT 1, found on the outer cell membrane, the other is CPT 2, found on the inner cell membrane. In the process of entering the cell, CPT 1 and CPT 2 convert long chain triglycerides into medium chain triglycerides. When one of these enzymes is lacking, this function cannot happen, making the long chain fats useless for energy. So, if a person with CPT 2 deficiency has a higher fat diet, that fat can't be used for energy as it cannot be broken down. This is important when you are physically active. Remember all that talk about aerobic activity and getting into your 'fat burning zone' when you are working out? With CPT 2 deficiency, you can't do that. So what does the mitochondria break down if it can't break down fat? Muscle tissue. Yup, the body goes after the muscle instead of the stored fat. That's where the trouble starts. When your muscle tissue gets broken down, it causes a lot of pain. That's the first sign with my kids that something is up. If the breakdown continues, other things can happen. A high amount of protein breaking down and getting filtered through the kidneys into the urine causes more problems. The kidneys can't handle all that protein filtering through at such a high concentration and they can fail. I don't know about you but I think avoiding kidney failure is a good thing.
So what do we do for them? They are on a low fat, high carbohydrate diet at a ratio of 20/70 with 10 percent remaining for protein intake. This diet ensures that their blood sugar remains at a level where the body has enough to burn for energy. Now, we can supplement medium chain fats into their diet via MCT oil (derived from coconut oil). I also use more coconut oil in cooking as well as butter. Both of these fat sources are around 50% medium chain fat. Yeah, yeah, they're saturated, but for these kids, they're also the best fat they can eat.
This is a highly simplified version of the disorder, which is a genetic disease. It is considered an autosomal recessive disease. More on that another time. My kiddos are wanting breakfast right now so I'm off to fix something for them! Michael wants PB & J. I make it with one tablespoon of peanut butter so he can feel like a regular kid and isn't completely deprived of his favorite things. :)
My two younger children, Michael (8) and Ariella (10) have been diagnosed with something called CPT 2 deficiency. That stands for Carnitine palmitoyltransferase type 2 deficiency. So...what is that? Well, how much do you remember from Biology or Anatomy & Physiology with the anatomy and function of the cell?
Mitochondria are the furnaces of the cell. They take broken down pieces from our food and turn them into energy, called ATP. On the mitochondrial cell membranes there are two enzymes responsible for transporting long chain triglycerides (fat) into the cells. One is CPT 1, found on the outer cell membrane, the other is CPT 2, found on the inner cell membrane. In the process of entering the cell, CPT 1 and CPT 2 convert long chain triglycerides into medium chain triglycerides. When one of these enzymes is lacking, this function cannot happen, making the long chain fats useless for energy. So, if a person with CPT 2 deficiency has a higher fat diet, that fat can't be used for energy as it cannot be broken down. This is important when you are physically active. Remember all that talk about aerobic activity and getting into your 'fat burning zone' when you are working out? With CPT 2 deficiency, you can't do that. So what does the mitochondria break down if it can't break down fat? Muscle tissue. Yup, the body goes after the muscle instead of the stored fat. That's where the trouble starts. When your muscle tissue gets broken down, it causes a lot of pain. That's the first sign with my kids that something is up. If the breakdown continues, other things can happen. A high amount of protein breaking down and getting filtered through the kidneys into the urine causes more problems. The kidneys can't handle all that protein filtering through at such a high concentration and they can fail. I don't know about you but I think avoiding kidney failure is a good thing.
So what do we do for them? They are on a low fat, high carbohydrate diet at a ratio of 20/70 with 10 percent remaining for protein intake. This diet ensures that their blood sugar remains at a level where the body has enough to burn for energy. Now, we can supplement medium chain fats into their diet via MCT oil (derived from coconut oil). I also use more coconut oil in cooking as well as butter. Both of these fat sources are around 50% medium chain fat. Yeah, yeah, they're saturated, but for these kids, they're also the best fat they can eat.
This is a highly simplified version of the disorder, which is a genetic disease. It is considered an autosomal recessive disease. More on that another time. My kiddos are wanting breakfast right now so I'm off to fix something for them! Michael wants PB & J. I make it with one tablespoon of peanut butter so he can feel like a regular kid and isn't completely deprived of his favorite things. :)
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