Guest guest Posted January 10, 2008 Report Share Posted January 10, 2008 Just my 2 cents here. My son's immunologist ordered Genetic testing at our very first visit. This has not been an issue, I'm not sure why in the world a doctor would hold off unless he is a part of an HMO and is financially incentivised to increase the insurance companies profits. Why if they feel is could be TRAPS wait on the test? Seems silly to me to wait any longer for answers. My doc mentioned that the insurance companies don't like to pay for it, but we went forward anyways. The testing can cost 3-5K, so we were willing to pay out of pocket if needed for peace of mind. However, our doc is willing to fight the insurance company for us.I personally would not do a T & A prior to genetic testing, for me a T & A is a last ditch effort, obviously this is a last ditch effort for all of us! My son does not have the throat problems (yet), but if he does get them as others describe and if we have ruled out ALL other disorders and settle on a final diagnosis of , then I definitely would go the T & A route. As far as likelihood of TRAPS based on family history, I would not count on that as an indicator. We have no history of these fevers either, but I would not be surprised if any of 's test come back positive. It just takes 2 people with a recessive gene to give the child this disorder. I also personally want to know because we are planning on more children and if we are carriers, I may consider adoption for subsequent kids. What would I do? I would DEMAND the genetic testing; this is not optional for us. We have seen GREAT doctors, but ultimately I still have to drive the ship and demand more and more. I'm impatient, my son is sick, and I won't wait. However, if you do indeed convince the doc to do the testing, it does take 6-8 weeks to get results back, so you would have to decide if you wanted to wait on the T & A. My question is what testing HAS your doctor done in the last year? With all the symptoms you are describing, I'm wondering if the doc is looking at the whole picture. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 10, 2008 Report Share Posted January 10, 2008 Dear Micah, Wow, the load you bear is much! What to do is so personal, but I will give you my thoughts. From all I have read and learned, one of the hallmarks of is perfect wellness between episodes, and it sounds like MC is having an overall rough time. We just saw an ENT today to talk about a T & A, but are not going to opt for surgery just yet. I want Eli, who is 3, to be at least 4 years old before surgery if possible, as there is less chance of complications (mainly dehydration issues). Also, we hope to be part of the NIH study to rule out hereditary problems first. I can understand why your doctor would like to be more certain of a diagnosis before doing surgery. I know you want to do everything possible and as soon as possible to help your doctor, but even a tonsillectomy carries a risk, so the more certainty you have of a diagnosis, the more reasonable going through that risk seems. Tests can be run to prove that MC does not have TRAPS, HIDS, or other genetic fever disorders. Of course, there is not yet a test to prove . If my child were having so many other symptoms besides periodic fevers, apthous stomatitis, and pharyngitis, I would feel much more comfortable testing for all those other fever syndromes before surgery. We are all sailing through uncharted territory, aren't we? And although we all advocate for our children, it sure is hard to know what tests, surgeries, or otherwise we should fight for. I hope you and your daughter find some answers soon! Jen Harvey - ________________________________________________________________________________\ ____ Be a better friend, newshound, and know-it-all with Mobile. Try it now. http://mobile./;_ylt=Ahu06i62sR8HDtDypao8Wcj9tAcJ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 11, 2008 Report Share Posted January 11, 2008 I talked to the doctor's office yesterday afternoon and we are going in for genetic testing next Friday. They said the results should take about 3 months. At least I feel like we are moving in the right direction at this point. She had a UA done last week that showed blood in her urine and a repeat one today that showed the same thing...not sure what that's all about. She has had really bad diarrhea, so I'm hoping it's just irritation from that and not something else. Micah Mom to (2.5) PFS > > > _____________________________________________________________________ _______________ > Be a better friend, newshound, and > know-it-all with Mobile. Try it now. http://mobile./;_ylt=Ahu06i62sR8HDtDypao8Wcj9tAcJ > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 11, 2008 Report Share Posted January 11, 2008 Hi there, just wondering if your daughter has ever been checked for Chrohn's disease or ulcertive colitis ... both of these can cause fevers, rashes, joint pain, and loos bms/diarrhea. These are also associated with eye issues. My son Mason had a colonoscopy/endoscopy to rule this stuff out. Just a thought, as I wasn't sure if this was ever mentioned to you as a possible. Take care and good luck in finding answers. Its definitely a tough road we all travel, and its really tough on us parents trying to make decisions for us kids. If only there was a " Manual " on what we need to do ... Heidi Mommy of Mason Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 11, 2008 Report Share Posted January 11, 2008 Hi there, just wondering if your daughter has ever been checked for Chrohn's disease or ulcertive colitis ... both of these can cause fevers, rashes, joint pain, and loos bms/diarrhea. These are also associated with eye issues. My son Mason had a colonoscopy/endoscopy to rule this stuff out. Just a thought, as I wasn't sure if this was ever mentioned to you as a possible. Take care and good luck in finding answers. Its definitely a tough road we all travel, and its really tough on us parents trying to make decisions for us kids. If only there was a " Manual " on what we need to do ... Heidi Mommy of Mason Quote Link to comment Share on other sites More sharing options...
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