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.
Thursday, May 30, 2013
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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