Today was Grayson's genetics appointment. We are getting him checked for the hemachromatosis gene. He could very well be just a carrier, but it is better to be sure than to end up being sorry we didn't check it out sooner. The paperwork is incredible! I must have filled out 20 pages of information to take with us for the appointment.
The doctor has decided that before she draws any blood, she wants to see the results from Randy's test done at the hospital. So I had to call the doctor from then to fax over the information. She basically said that if the place that did the regular test was one she would use, she would use it rather than another place. Her thinking is that they know already the gene they found in Randy and they would better be able to find it in Grayson. So until she gets the information from the other doctor she wants to hold off. If she doesn't want to use the other lab, then we will have to go in to her office to the blood drawn there. Won't that be a happy day? So no news on that front.
However...
While they were doing the check on Grayson they found that he has a heart murmer. The first doctor who does the initial check and gets the history acted a little weird when he left the room, which was my first indication of something odd. When the main doctor came in, she began by matter-of-factly mentioning the murmur. She was a little surprised that this was the first time I had heard of this. She went on to say that many children will exhibit the symptom based on the fact that the lining of the heart walls are thinner in children than in adults. She mentioned that many times it is a false positive because they can hear the blood pumping from inside the heart. Then after listening to him herself, she mentioned that it was distinct. Just when you think you have explored the possibilities, a new one pops up. I am telling you...this family and medical issues. It is phenomenal.
So now we have to take Grayson to a pediatric cardiologist. I suppose the growth issue could be caused by a heart issue. My question is, with all the different doctors he sees, why has no one else caught this? OR is this some new development? I guess we shall see. I am not going to get upset about this until I have a reason to. I will not say that I won't WORRY or be CONCERNED, I just won't go bug crazy and start choking people because of it. Not yet anyway.
Showing posts with label hemachromatosis. Show all posts
Showing posts with label hemachromatosis. Show all posts
Tuesday, November 4, 2008
Wednesday, July 9, 2008
Check-ups!
Nathan and Grayson went for their annual check-ups yesterday. Both of them got shots...and both of them did very well. Nathan cried more before he got the shots than during. Go figure. Poor Grayson had 5 of them! He agreed to only two, and when the others came on the left arm he was not happy. But they both got ice cream for their pain and they were happy.
Both boys are being sent to a geneticist. Nathan for the fact that he has many signs of Albinism. We visited this issue two years ago when the eye doctor said that he had a very light retina (more pink than red). We went to a pediatric ophthalmologist who said he didn't think Nathan had it. After we did the eye exam last week and it was such a dramatic change I decided to revisit the Albinism information. Nathan has many signs, that could be just coincidence of course, but too many to be ignored at this point. The only real way of knowing is to do a genetic test. He has patches of white hair on his head near his temples and one at the back. It is funny because my cousin's son had the same thing but his hair is actually brown so it shows more. Anyway, the patches are called poliosis. If you would like to, there is a great article on the subject. Apparently, the patches can be an indication of an underlying condition, not an actual condition themselves. So this is on tick on the possible Albinism scale. He has the "blonde fundus" which is tick two on the Albinism scale. He now has at least the minimum visual impairment for tick three on that scale. So I just really really want to be sure that he does or does not have Albinism. Apparently there are different types, and the one we are looking for is not your typical Albino disease that you know about with bleached skin, pink eyes etc. The one we are looking into is called Ocular Albinism. If you are interested in learning more here is a link that can give you good information.
Nathan's "spot"
Grayson is being sent to be tested for the markers of hemachromatosis. The pediatrician agreed that is something that we don't want to wait to see if he has. Whatever we can do to prevent organ damage, the better off he will be if he has it. Just knowing will be half of the battle and knowing early will be so good for him. Basically we can watch his iron levels, and when he gets old enough he can begin giving blood once a month as a way to get rid of high iron stores. Heavy metals don't leave the body in easy ways...he would have to bleed it out. If he were a girl we wouldn't have to worry about it until he reached menopause because women "bleed" every month naturally. Apparently too much iron is toxic just like lead or mercury. So it is important to get this information as soon as we can so we can avoid major problems in the future.
Both boys are lean. Nathan is now 51 and 1/4 inches tall (about 4'3") and weighs 57 pounds. That puts him in the 16th percentile...which for him is about his normal...except for when he was a baby and in the 75th percentile! Now the boy eats and eats and who knows where it all goes. Grayson is 39 and 1/4 inches tall (about 3'3") and weighs 33 pounds. He is in the 3rd percentile for weight and the 10th percentile for height. The medicine for the eating has definitely increased his appetite, but omigosh is he hyper! The pediatrician was in awe of his movement and overall activity during the visit yesterday as opposed to all the other times we have been there...and that is saying a LOT. She told us to back down the periactin to only once a day. Apparently he is having some adverse effects! Now I know what an ADD child really looks like. I am so thankful that he is not normally like this, holy moley am I glad! It seems to me that while he is eating more, he is definitely burning more off by running at full speed all the time. In three weeks he has gained a half a pound. So we are only going to give him the medicine once a day instead and see how he does.
Both boys are being sent to a geneticist. Nathan for the fact that he has many signs of Albinism. We visited this issue two years ago when the eye doctor said that he had a very light retina (more pink than red). We went to a pediatric ophthalmologist who said he didn't think Nathan had it. After we did the eye exam last week and it was such a dramatic change I decided to revisit the Albinism information. Nathan has many signs, that could be just coincidence of course, but too many to be ignored at this point. The only real way of knowing is to do a genetic test. He has patches of white hair on his head near his temples and one at the back. It is funny because my cousin's son had the same thing but his hair is actually brown so it shows more. Anyway, the patches are called poliosis. If you would like to, there is a great article on the subject. Apparently, the patches can be an indication of an underlying condition, not an actual condition themselves. So this is on tick on the possible Albinism scale. He has the "blonde fundus" which is tick two on the Albinism scale. He now has at least the minimum visual impairment for tick three on that scale. So I just really really want to be sure that he does or does not have Albinism. Apparently there are different types, and the one we are looking for is not your typical Albino disease that you know about with bleached skin, pink eyes etc. The one we are looking into is called Ocular Albinism. If you are interested in learning more here is a link that can give you good information.
Nathan's "spot"Grayson is being sent to be tested for the markers of hemachromatosis. The pediatrician agreed that is something that we don't want to wait to see if he has. Whatever we can do to prevent organ damage, the better off he will be if he has it. Just knowing will be half of the battle and knowing early will be so good for him. Basically we can watch his iron levels, and when he gets old enough he can begin giving blood once a month as a way to get rid of high iron stores. Heavy metals don't leave the body in easy ways...he would have to bleed it out. If he were a girl we wouldn't have to worry about it until he reached menopause because women "bleed" every month naturally. Apparently too much iron is toxic just like lead or mercury. So it is important to get this information as soon as we can so we can avoid major problems in the future.
Both boys are lean. Nathan is now 51 and 1/4 inches tall (about 4'3") and weighs 57 pounds. That puts him in the 16th percentile...which for him is about his normal...except for when he was a baby and in the 75th percentile! Now the boy eats and eats and who knows where it all goes. Grayson is 39 and 1/4 inches tall (about 3'3") and weighs 33 pounds. He is in the 3rd percentile for weight and the 10th percentile for height. The medicine for the eating has definitely increased his appetite, but omigosh is he hyper! The pediatrician was in awe of his movement and overall activity during the visit yesterday as opposed to all the other times we have been there...and that is saying a LOT. She told us to back down the periactin to only once a day. Apparently he is having some adverse effects! Now I know what an ADD child really looks like. I am so thankful that he is not normally like this, holy moley am I glad! It seems to me that while he is eating more, he is definitely burning more off by running at full speed all the time. In three weeks he has gained a half a pound. So we are only going to give him the medicine once a day instead and see how he does.
Tuesday, June 17, 2008
Hemachromatosis update
Randy's doctor called last night at 9:30! He must have been on-call at the hospital or something. What a really nice guy, by the way. Anyway, he was calling to update Randy on the results of the genetic test they ran in the hospital. Apparently has has two of the markers for the disease. I included a link in a previous post, so if you are interested in checking out the information please scroll back a week or so. I will need to delve a little further with that information because it may be important. Grayson has suffered from migraines since he was two and a half or so. Daily headaches. He has been on the maximum dosage of the Verapamil for about a year. We have never been able to figure out why he has had them. Perhaps he needs to have the genetic test done also to see if he might have this same issue. Before I get all up in arms about anything though I want to talk to Randy's doctor again and find out specifics of which markers where etc. I looked up the information on the juvenile version of the hemachromatosis, but there is really not much mention of brain issues or headaches. So for now we will wait and see.
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