Guest guest Posted April 23, 2008 Report Share Posted April 23, 2008 Hi again all! Well we received the results from the full gene analysis and still only 1 mutation came up heterozygus (carrier). We brought the results to the Ped. Rheum. yesterday and she said because he has the monthly fevers she wants to treat him with the colchicine even though he is showing only carrier status. She said some carriers can actually have symptoms of FMF. She said if he responds to the colichicine then she will diagnose him FMF. If he does not respond she will diagnose him . She wants to see him in 3 mos. She seemed very knowledgeable about all of the periodic fever syndromes. She said it sounds like he clinically presents but because of the heterogygus mutation coming up she wants to treat as if FMF - because the only way to rule out FMF is if there is a response to colichicine. Any thoughts out there on this approach? Thanks all! - Niko (monthly fevers since 6 mos old - now almost 3) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 23, 2008 Report Share Posted April 23, 2008 Hi , My daughter was also tested for the genetic fever conditions and they found that she had one gene mutation for FMF. We put her on colchicine for about 3-4 months, but did not see any improvement, so we took her off of it. Colchicine is a relatively benign medication in that if you don't have FMF, it shouldn't hurt you, so its often used as a way of diagnosing FMF. Because they believe there are gene mutations which have not yet been found, so if your child has one, its possible he has the other but it just hasn't been identified yet. Anyhow, we tried the colchicine and it didn't work. We then got into the study at NIH and met with Dr. Kastner. He indicated that the gene mutation she did have is actually a very common gene mutation and they are not sure if it is even a sign of FMF. Also, given her symptoms (or lack of any stomach pain/issues) and the fact that colchicine didn't help at all, he didn't believe its FMF. Hope this helps some. If you join the FMF Group, they have a lot of information of how to take colchicine inorder to minimize the side effects, etc. Good luck! am Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 23, 2008 Report Share Posted April 23, 2008 Hi , My daughter was also tested for the genetic fever conditions and they found that she had one gene mutation for FMF. We put her on colchicine for about 3-4 months, but did not see any improvement, so we took her off of it. Colchicine is a relatively benign medication in that if you don't have FMF, it shouldn't hurt you, so its often used as a way of diagnosing FMF. Because they believe there are gene mutations which have not yet been found, so if your child has one, its possible he has the other but it just hasn't been identified yet. Anyhow, we tried the colchicine and it didn't work. We then got into the study at NIH and met with Dr. Kastner. He indicated that the gene mutation she did have is actually a very common gene mutation and they are not sure if it is even a sign of FMF. Also, given her symptoms (or lack of any stomach pain/issues) and the fact that colchicine didn't help at all, he didn't believe its FMF. Hope this helps some. If you join the FMF Group, they have a lot of information of how to take colchicine inorder to minimize the side effects, etc. Good luck! am Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 24, 2008 Report Share Posted April 24, 2008 Hi am, Do you know which mutation your daughter had? Nikos came back heterozygus fo V726A. Thanks! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 24, 2008 Report Share Posted April 24, 2008 Hi am, Do you know which mutation your daughter had? Nikos came back heterozygus fo V726A. Thanks! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 24, 2008 Report Share Posted April 24, 2008 Hi , Yes, my daughter has the E148Q gene mutation. Based on Dr. Kastner's input and research I've done, it is questionable whether this gene mutation is really an indicator of FMF. You can do research on the specific gene mutation. Re: the colchicine, I did not by any means want to imply that its totally benign and you shouldn't question whether you should try it. But, it is something that is prescribed to children in the middle east (which is where I'm from) and really felt like it was worth the try - if it can help the fever, it can be a lifesaver. In our case it did not. And, our doctors did monitor her closely while she was on the medication. Hope this helps. am Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 24, 2008 Report Share Posted April 24, 2008 Hi , Yes, my daughter has the E148Q gene mutation. Based on Dr. Kastner's input and research I've done, it is questionable whether this gene mutation is really an indicator of FMF. You can do research on the specific gene mutation. Re: the colchicine, I did not by any means want to imply that its totally benign and you shouldn't question whether you should try it. But, it is something that is prescribed to children in the middle east (which is where I'm from) and really felt like it was worth the try - if it can help the fever, it can be a lifesaver. In our case it did not. And, our doctors did monitor her closely while she was on the medication. Hope this helps. am Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 25, 2008 Report Share Posted April 25, 2008 My son has been on colchicine for six months now. And it has truly helped him. he skipped the whole month of march and half of April but sadly this month it came back. The worst episode this year. But the colchicine has taken his stomach pains away they would get so bad he was ready to pass out. So were happy for that. i can't say the drug does not scare me but it has slowed down his episodes to small ones once a month from every two to three weeks so that's good for now. we go back to ucsf on May 29 for a follow up. we will see. char ************** Need a new ride? Check out the largest site for U.S. used car listings at AOL Autos. (http://autos.aol.com/used?NCID=aolcmp00300000002851) Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.