Dear Logan,
As Mommy told you earlier when I came to visit you today, I had an appointment with the Geneticist and the Genetic Counselor. They both seemed to be surprised that Daddy didn't come with me to the appointment. It never occurred to me that this is such an important meeting that he should attend. Well, it's OK. I can deal with meetings with doctors, as I've been doing that since you're hospitalized. I was there with you everyday, speaking with the nurses and doctors, so I could attend this meeting all by myself.
As Mommy told you earlier, you did get your mutated DNA from me. The blood test shows that I possess the same mutated mitochondria DNA, m8993T>G mutation. The result shows that " a low level of heteroplasmic familial m.8993T>G mutation was detected. The level of heteroplasmy is less than 1% as detected by real-time ARMS PCR". This mt8993 is what causes Leigh's Disease.
So basically, Mommy has a less than 1% mutation, which is good news. The Geneticist, Dr. W said that it's very unlikely that I will develop any other symptoms in the future because of such a low level, and because I am a pretty healthy adult. That basically answered one of Mommy's four questions. However, because mitochondria is present in all parts of the body and in all organs, the result only tells us what's in my blood. It does not tell us what's happening to my brain, or liver, or ovaries, or any parts of the body. Of course, if I want to do a liver biopsy or further testing, it's possible. But Dr. W believes the sampling from the blood should be a pretty good representation of what's going on inside my body. He said it usually takes a 40-50% mutation to start seeing other symptoms. The first one would be eye diseases, which I forgot the name of the disease that he said is most common. As for you, my dear, you have a 90% mutation. It's no wonder everything happened so fast all of a sudden. The percentage was so high. I can't believe it could be this high, when Mommy has such a low percentage.
As for your older brother, Dr. W said he should be OK. He has not exhibited any symptoms, and is a healthy 3-year old. Symptoms usually exhibit between 3 months and 2 years old. As I've told you before, I have changed my stand in getting Aidan tested. Dr. W agreed with me. Your brother is very likely to possess that mutated DNA, but it's probably a very small percentage that doesn't affect him. We probably don't want to frighten him with needles. When he gets older, and if we still want to know, then we could proceed with the blood test. I guess for now, we'll just pay attention to his eyes. And since he's a boy, he is not going to pass this to his future children. I am grateful he's not a girl.
When we talked about future pregnancies, Dr. W said it is possible to do pre-natal testing. However, the result might not be definitive as well, just like how he has explained to me regarding the absence of other biopsies and tests for other organs to get the full picture. But if I do decide to have another baby, it's definitely recommended to get the baby tested. Dr. W said, statistically, the chance of having another baby with a high percentage of mutation is pretty low, esp. since you were at 90%. But, is Mommy going to risk it? I told Dr. W that I probably would not have another baby. I am scared. It's when we started talking about this subject, that Mommy started to cry. I could not go through this again. Sometimes it feels like you've been gone for a very long time, but actually, it's only been 2.5 months. The wound is still new, and I don't think I will be able to have a worry-free pregnancyor the first couple years of the new baby's life.
We then started to talk about your Auntie Mena and Uncle Carlos. It's unsure whether Mommy got the DNA mutation from Ah Po, or that I am the first in the family to have that. If they could get tested, then we would know. And since they are both pretty healthy, it's very likely that they both either possess a very low percentage, or not even have it. But the concern becomes, what if Auntie does have the mutated DNA, she might pass it along to her future children. Should she get tested? If so, how the heck are we going to do that in Macau. I am not sure how I am going to explain all this to her and to Ah Po. I don't want to scare them, but I think it's important information that they should know, and to think about.
Mitochondrial disease are so rare, yet Leigh's Disease is one of the more common ones, according to Dr. W. He said most pediatricians probably do not have any patients with this disease. They might have heard of it or studied about it, but do not have first-hand experience with Mitochondrial disease, except PICU. It's not like cancer, or heart disease, or AIDS, that most people have heard of. I hope in the future, a cure will be found. But with such a rare disease, getting funding to do research is even tougher. Mommy hopes by blogging about your experience, we are bringing more awareness to this disease.
Logan, please watch over all of us and make sure this 1% is not getting any higher in other parts of our body.
Mommy will be going back to work tomorrow afternoon. Life will be busy, but more consistent again. I might not have as much time to write to you everyday or to visit you as often, but Mommy will still think about you often.
Love,
Mommy
Showing posts with label geneticist. Show all posts
Showing posts with label geneticist. Show all posts
Monday, June 29, 2009
Genetics and Potty Training
Dear Logan,
In a couple hours, Mommy will be heading down south to meet with the Geneticist to discuss the results of my blood test. I am not sure what the conversation is like, but I have a feeling that I do possess the same DNA mutation in my mitochondria. If not, how else are you going to get that? It would be very rare for you to have the illness without me giving that to you. I was adamant in getting your brother tested, if I were to be positive. However, now that I think about it, if your brother seems to be doing fine, and this mutation is only passed along by mothers, maybe I won't have your brother tested. Afterall, why subject him to the trauma of getting his blood drawn when he's this young. However, I need to consult with the Geneticist and then talk to Daddy to decide what's going to happen. I was going to prepare some questions to ask the Geneticist, but I think they will probably cover all of my questions. The most important thing is, will your brother be OK, and will I be OK. If I were to have another baby, what are the chances that the future baby will have the same mutation, and if this could be tested with the amniocentesis. These are my main questions.
On to the your brother's potty-training, it's not going too well. I don't think we're making much progress and Daddy and Mommy are getting very frustrated. I know we're not supposed to, as all the other experts say, but it's hard not to. It seems like he couldn't feel the urge to go pee pee in the potty. He definitey felt the urge to go poopy, coz he told us. Yay! But he won't go pee all by himself. We had to tell him to go, then he might pee in there. The most upsetting moment was last night before he went to bed. I knew he would pee about every 30 mins if he has drunk something. So, after dinner, we played a little, then brushed his teeth. His 30-minute mark was almost there, and after brushing, I told him to go potty while I drew water for his bath. Once I turned around to draw water, he immediately peed in his pants while standing on the stool (where he stood to brush his teeth). I was so pissed off. I just told him to step down and go potty and he didn't! I was so upset with him, I didn't talk to him much during the whole bath, and after I put him to bed, I told him I was not going to sleep with him and he had to sleep all by himself. I then proceeded to wash his clothes by hand, as I just turned on the washer for all of his other dirty underwear. After I finished washing and checked on him, he already fell asleep.
I felt really bad afterwards. I knew I should have held my cool, afterall, I am the adult here, right? And he was so tired, since he didn't nap yesterday. Maybe being tired has affected his potty-training ability? I don't know. I read that you have to give kids a lot of salty snacks and fluids, so that they will go often. We didn't really do that, just the usual amount of fluid. Maybe we didn't give him enough fluid so that he could feel the urge to go? I don't know. He would go if I forcefully tell him to. But if I asked if he needed to go, he always says no. I don't know if he couldn't feel the urge, he defiantly said no, or by the time he felt it, it was too late. I guess we'll have to try it another weekend. I hope I have not traumatized him. It's hard not to give him pressure.
Well, Logan, I'll see you in a little while. I'm gonna come see you after I see the Geneticist. I also want to take two of the pinwheels away from you, leaving just one, and see if the people are going to take it away on Wednesday during flower clean-up time. See you soon.
Love you,
Mommy
In a couple hours, Mommy will be heading down south to meet with the Geneticist to discuss the results of my blood test. I am not sure what the conversation is like, but I have a feeling that I do possess the same DNA mutation in my mitochondria. If not, how else are you going to get that? It would be very rare for you to have the illness without me giving that to you. I was adamant in getting your brother tested, if I were to be positive. However, now that I think about it, if your brother seems to be doing fine, and this mutation is only passed along by mothers, maybe I won't have your brother tested. Afterall, why subject him to the trauma of getting his blood drawn when he's this young. However, I need to consult with the Geneticist and then talk to Daddy to decide what's going to happen. I was going to prepare some questions to ask the Geneticist, but I think they will probably cover all of my questions. The most important thing is, will your brother be OK, and will I be OK. If I were to have another baby, what are the chances that the future baby will have the same mutation, and if this could be tested with the amniocentesis. These are my main questions.
On to the your brother's potty-training, it's not going too well. I don't think we're making much progress and Daddy and Mommy are getting very frustrated. I know we're not supposed to, as all the other experts say, but it's hard not to. It seems like he couldn't feel the urge to go pee pee in the potty. He definitey felt the urge to go poopy, coz he told us. Yay! But he won't go pee all by himself. We had to tell him to go, then he might pee in there. The most upsetting moment was last night before he went to bed. I knew he would pee about every 30 mins if he has drunk something. So, after dinner, we played a little, then brushed his teeth. His 30-minute mark was almost there, and after brushing, I told him to go potty while I drew water for his bath. Once I turned around to draw water, he immediately peed in his pants while standing on the stool (where he stood to brush his teeth). I was so pissed off. I just told him to step down and go potty and he didn't! I was so upset with him, I didn't talk to him much during the whole bath, and after I put him to bed, I told him I was not going to sleep with him and he had to sleep all by himself. I then proceeded to wash his clothes by hand, as I just turned on the washer for all of his other dirty underwear. After I finished washing and checked on him, he already fell asleep.
I felt really bad afterwards. I knew I should have held my cool, afterall, I am the adult here, right? And he was so tired, since he didn't nap yesterday. Maybe being tired has affected his potty-training ability? I don't know. I read that you have to give kids a lot of salty snacks and fluids, so that they will go often. We didn't really do that, just the usual amount of fluid. Maybe we didn't give him enough fluid so that he could feel the urge to go? I don't know. He would go if I forcefully tell him to. But if I asked if he needed to go, he always says no. I don't know if he couldn't feel the urge, he defiantly said no, or by the time he felt it, it was too late. I guess we'll have to try it another weekend. I hope I have not traumatized him. It's hard not to give him pressure.
Well, Logan, I'll see you in a little while. I'm gonna come see you after I see the Geneticist. I also want to take two of the pinwheels away from you, leaving just one, and see if the people are going to take it away on Wednesday during flower clean-up time. See you soon.
Love you,
Mommy
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