This past weekend was pretty rough and I am happy to say that the kids made it through relatively unscathed. There were some moments of agony on their part with a slight stomach bug that was going around. All three kids were under the weather. While it isn't a good idea for any of them to fast, it is incredibly important for Ariella and Michael to eat and they were refusing. That is when it gets really frustrating with this disease. You want to acquiesce to their desires, especially because who wants to eat when they are nauseous? No one. But they have to have food in their system. They need the calories to get better, or to keep from getting worse. And you know they are sick when they start requesting Zofran. That has become the magic pill in this house. Once they have some, they can feel better and start to eat. I have to say I am forever thankful for whomever came up with that medication!
Since Sunday, the kids have been much better, which is definitely a huge relief! I am sure they are going to want to go swimming again on Thursday, like they have for the last two weeks. Here's hoping I am feeling well this week; last Thursday I was having a rough day of my own and wasn't able to bring them. Good thing Daddy only lives a mile away! He came and got the little goobers and took them.
Tuesday, October 21, 2014
Tuesday, October 14, 2014
Ok, so now I have a Facebook page for the kids, called 'Raising Rare and Beautiful Children with CPT 2 Deficiency'. I reference the blog on the page too so maybe I'll get some more views here. Which means I should probably write more stuff! haha
I have found over time that my information is different and I am still learning in this process. Please do not take everything I say as gospel because what I wrote originally wasn't quite right. The concept wasn't far off, but the delivery wasn't correct. I hate being wrong so it takes a bit for me to admit that! But I don't want to give people the wrong information either.
Today was a very long day...tomorrow I get the kiddos for my time of the week with them. They had a successful swim at the pool last week so I am guessing they are going to want to go again. MCT oil before the trip swimming is key. Two teaspoons in a drink and off we go!
I have found over time that my information is different and I am still learning in this process. Please do not take everything I say as gospel because what I wrote originally wasn't quite right. The concept wasn't far off, but the delivery wasn't correct. I hate being wrong so it takes a bit for me to admit that! But I don't want to give people the wrong information either.
Today was a very long day...tomorrow I get the kiddos for my time of the week with them. They had a successful swim at the pool last week so I am guessing they are going to want to go again. MCT oil before the trip swimming is key. Two teaspoons in a drink and off we go!
Monday, October 6, 2014
Long time, no post
A lot of time has passed and I am doing a disservice to anyone who may discover this blog by not writing in it. For the little ones, it has been a good year overall. Michael and Ariella have avoided hospital stays through good health and careful management of their symptoms.
Michael, however, was a participant in a clinical trial through the Oregon Health and Science University. Working with Melanie Gillingham, and Cary Harding, MD, I traveled to Portland twice with Michael and Ariella. Ariella was not permitted to participate in the study because her second gene mutation wasn't available in her chart. (Long story, but I did get the answer finally as to why!) Michael was nervous about the tests but participated fully. This link gives information about the specifics of the trial. https://clinicaltrials.gov/ct2/show/NCT01379625?term=CPT+2&rank=4
We traveled in January and again in April, and in between Michael took doses of the study oil, which was either MCT oil or C7 oil, also known as triheptanoin. When the study is completed, we will find out which oil he received.
It was quite an adventure, traveling across the country with a 9 and 11 year old. Twice! They had a lot to say about the flights. The second time we went was a lot better than the first because there wasn't as much turbulence and there weren't as many crying babies. The kids also enjoyed flying United because they got to watch television while we flew. (I wasn't a fan because they broke my suitcase.) They were the most well behaved I think I have ever seen them though, for such a different and intense situation as the entire process of flying. I was very proud of them.
Nathan ran into a little trouble this summer with his headache. His neurologist recommended a lumbar puncture to determine if his two year long headache (it has not remitted even for a day) is from a cerebrospinal fluid pressure issue. His CSF pressure was fine but he didn't react well to the lumbar puncture. We had two ER visits afterward and a week later, during the second visit, Nathan had a procedure called a blood patch and his headache finally calmed back down to his baseline.
Our new health insurance will not cover the medication the neurologist prescribed for his flare ups to the headache so we have to try two other medications first. So far Imitrex is a fail so it's time to try Maxalt and then maybe we can go back to the Amerge that was actually helpful. Insurance companies are so frustrating!
This school year has started a new chapter for Ariella and Michael. They are now being homeschooled by their father and are doing much better with their studies. It is wonderful to see! And their illness doesn't keep them from learning because they are comfortable at home.
More to come...hopefully it won't take another year to post!
I am also thinking of creating a Facebook page for the kids. It is important to get more information out there about CPT 2 deficiency. The biggest news I received in the past couple of weeks is the incidence rate, which is 1:300,000. It's one of the most rare conditions I have ever heard about; the other fatty oxidation disorders are much more common.
Michael, however, was a participant in a clinical trial through the Oregon Health and Science University. Working with Melanie Gillingham, and Cary Harding, MD, I traveled to Portland twice with Michael and Ariella. Ariella was not permitted to participate in the study because her second gene mutation wasn't available in her chart. (Long story, but I did get the answer finally as to why!) Michael was nervous about the tests but participated fully. This link gives information about the specifics of the trial. https://clinicaltrials.gov/ct2/show/NCT01379625?term=CPT+2&rank=4
We traveled in January and again in April, and in between Michael took doses of the study oil, which was either MCT oil or C7 oil, also known as triheptanoin. When the study is completed, we will find out which oil he received.
It was quite an adventure, traveling across the country with a 9 and 11 year old. Twice! They had a lot to say about the flights. The second time we went was a lot better than the first because there wasn't as much turbulence and there weren't as many crying babies. The kids also enjoyed flying United because they got to watch television while we flew. (I wasn't a fan because they broke my suitcase.) They were the most well behaved I think I have ever seen them though, for such a different and intense situation as the entire process of flying. I was very proud of them.
Nathan ran into a little trouble this summer with his headache. His neurologist recommended a lumbar puncture to determine if his two year long headache (it has not remitted even for a day) is from a cerebrospinal fluid pressure issue. His CSF pressure was fine but he didn't react well to the lumbar puncture. We had two ER visits afterward and a week later, during the second visit, Nathan had a procedure called a blood patch and his headache finally calmed back down to his baseline.
Our new health insurance will not cover the medication the neurologist prescribed for his flare ups to the headache so we have to try two other medications first. So far Imitrex is a fail so it's time to try Maxalt and then maybe we can go back to the Amerge that was actually helpful. Insurance companies are so frustrating!
This school year has started a new chapter for Ariella and Michael. They are now being homeschooled by their father and are doing much better with their studies. It is wonderful to see! And their illness doesn't keep them from learning because they are comfortable at home.
More to come...hopefully it won't take another year to post!
I am also thinking of creating a Facebook page for the kids. It is important to get more information out there about CPT 2 deficiency. The biggest news I received in the past couple of weeks is the incidence rate, which is 1:300,000. It's one of the most rare conditions I have ever heard about; the other fatty oxidation disorders are much more common.
Friday, October 11, 2013
Cold season once again
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.
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.
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.
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