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Genetic Testing

Moms View Message Board: General Discussion Archive: Archive July 2005: Genetic Testing
By Bemerry84 on Friday, July 15, 2005 - 02:48 pm:

My 7 1/2 yr old DS was referred to a Pediatric Endocrinologist by his Ped due to his rapid growth in height and weight. (he's 4'7" and 142 lbs.) There is nothing medically wrong with him and he is in excellent health. My 14 yr old DS is 5'10" and 180 lbs. but was never as big as his brother at that age. She suggested due to family medical history (some of us are on the heavy side but not extemely heavy and all are in good health)that he have a genetic test for early onset obesity (I hate that word) called MC4R. That this would give us an answer why he is the way he is. The decision is entirely up to us. However, this could possibly affect his chance of getting life insurance when he is older. When he is older and has a family of his own he will need insurance. Is is worth the risk?? The Dr. is sure it is genetics as he takes after me. There isn't any type of medicine to help at this point in time, until they actually locate which gene it is. What would you do?

By Missmudd on Friday, July 15, 2005 - 03:53 pm:

Personally I wouldnt get the testing done. You know he is heavy, would it change anything knowing for certain why? Maybe you would have a little peace of minding knowing it had a genetic component but how you deal with his weight would be exactly the same, diet and excersise. So if it were me, I wouldnt have it done, IMO just seems needless.

By Emily7 on Friday, July 15, 2005 - 03:57 pm:

I agree with Kristin, especially since it would affect the possibility of getting health insurance when he is older.

By Amecmom on Friday, July 15, 2005 - 03:57 pm:

The outcome of the testing will change nothing except to possibly prevent your son from getting insurance later on. Since there is no treatment available, I would do as Kristin suggested and combat this from the stance of diet and exercise.
Sounds like the testing can only hyrt.
Ame

By Kellyj on Friday, July 15, 2005 - 04:10 pm:

If the results of any test will not change the way the disorder is managed then I don't see the point of testing. In the future he may wish to reconsider if he was concerned about passing the defect to the next generation.

By Marcia on Friday, July 15, 2005 - 05:22 pm:

Is that all they would be testing for? There are several overgrowth syndromes, and perhaps she's checking several possibilities.

By Bemerry84 on Friday, July 15, 2005 - 07:04 pm:

Marcia, the Dr. ruled out the other syndromes because of all the blood tests that were done and the results were all normal and he doesn't have any type of symptoms. Most of the others, like Prader Willy (sp) etc. the children are short and usually only put on weight, where my DS is very tall for his age. My ped thought he might have a thyroid problem, but the endo said the blood was normal and it is the right size. No signs of Insulin Resistance Syndrome. She suggested the genetic test so we would have an answer and that he would know in his mind that he was born this way and it is not a result of overindulgence. Kids are just now starting to tease him and I know what it's like growing up like that and wanted to spare him the pain. For the past year I have cut carbs, fat, and sugar (I lost 35 lbs., 14 yr DS lost 10, and 7 yr DS and DH none). My daycare also has made special arrangements for when he eats there. He is a very active child (on swim team in winter and soccer in spring and fall), does not play video games and TV is limited. No eating in front of the TV. The only other suggestion the endo had was 30 min. of indoor exercise, treadmill or stationary bike (which sits in our family room and he rides from time to time) and I will now try to have him do at least 5 days a week. My DH is 6'4" and she believes he will be taller than this, which is fine with me if we can keep the weight down somehow. Any suggestions or ideas are welcome from anyone. Thank You.

By Feona on Friday, July 15, 2005 - 07:09 pm:

No reason to get the testing done since it wouldn't help him in any way.

By Feona on Friday, July 15, 2005 - 07:11 pm:

Is there diabetes in the family? Because if there is he probably is carb sensitive. My husband lost 60 pounds cutting the carbs. (sister in law too) Diabetes on both side of their family tree with their parents.

By Ginny~moderator on Friday, July 15, 2005 - 08:36 pm:

I also don't see any reason to do the tests if there is nothing that can be done - assuming the test results come out as the endocrinologist thinks they will. Diet (the types of food he eats) and exercise will probably help some, but may not make a major difference.

I think the endocrinolgist's rationale that having the test will help him in his own mind is a bit specious. I think your son already knows whether he is overindulging, and doesn't need the test to reassure him. And she already knows enough to know that this is a genetic thing, not overindulgence and not the many things that were ruled out.

By the way, I realize a blood test was done to rule out thyroid problems, but did they do a radio-iodine test? That is a more definitive test usually. My ex had a really screwy thyroid and at one point had symptoms that included inabiity to perform fine motor functions (not great for a consulting engineer who was expected to build electronic prototypes), great weakness in his arms and overall weakness. He went from hyper to hypo to hyper several times in the past 40 years.

Overall, I don't see any good reason to do the test except to satisfy the endocrinologist. If you decide to do it, one thing I'd do is write a specific letter to the endocrinologist that the results of your son's test and any diagnosis is not to be included in any paper, report, or other writing. She may be wanting to do this because, in her mind, it is the next logical scientific step, but still, given that if the tests prove her right nothing is gained in terms of treatment, and your son has a permanent medical diagnosis that could, because it is a matter of record, cause problems for him in the future - I would be hesitating myself. It's not like anything can be done as a result of the tests, so where is the gain for your son other than her hypothesis that it would reassure him.

By the way, have you talked with your son about this at all?

By Beth on Saturday, July 16, 2005 - 10:12 am:

I don't think that "knowing" is not going to make that big of a difference. Unfortuately the kids are going to tease him anyway. They are not going to distinguish between this being something that he can't help. Hopefully his weight will even out with his height as he gets older. Poor guy. Kids can be so cruel. ((hugs))

By Bemerry84 on Monday, July 18, 2005 - 12:16 pm:

Thanks everone for your input I appreciate it. We have decided NOT to have the test done. After talking to several exteneded family members at a grad party this weekend, the test will only show what we already know and I do not want to jeopardize his future by being labeled. The endo Dr. really did not think it was necessary but she stated that some people need confirmation and since I grew up and dealt with this already there is no need to confirm what I know. We will continue watching the carbs, fat and sugar and will increase exercise. We have talked to him about this and am teaching him to read nutrition labels and we do not refer to it as a diet but as choices we are making to improve our overall health. Ginny I am going to call and see if they did the radio-iodine test, that one does not sound familiar and I can't tell by reading the results myself. Thanks Again. Mary

By Colette on Monday, July 18, 2005 - 12:43 pm:

I don't think they do radio iodine testing on children.


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