Guest guest Posted February 6, 2002 Report Share Posted February 6, 2002 In a message dated 2/6/02 9:41:08 PM Pacific Standard Time, mmjw3@... writes: << I have been diagnosed by Dr Buckner as also having Palindromic Rheumatism, >> , I have never heard of it. Do you also have RP? I will do some checking and if you find anything out, please share it with us. How did she determine you had this? Was it a blood test? Boy I sure have lots of questions huh? sorry. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 6, 2002 Report Share Posted February 6, 2002 Yes, unfortunately, I have both conditions. The range of experience of those with PA is similar to RP in that it can range from slightly impacting your life, to totally disabling you. It seems to attack the major joints, as well as tendons and ligaments. I have it mostly in my knees, right ankle, and the last couple of days it has really landed in my elbow and wrist on the right side. The pain ranges from 10 on a 10 scale, to about a 4 so far. the percocet is for the 8-10 range, when I literally cannot stand the pain. It's a bummer, but it also explains a lot of the different experiences I was having that seemed different than how the RP usually manifests. Thanks for your note! How are you? michelle Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 17, 2003 Report Share Posted September 17, 2003 Hi there and welcome! Do you mean 2 cf mutations? As far as I know, which is very limited, if you have 1 cf mutation, you are a carrier. I you have 2 cf mutations, you have cf. mom of a 10 wcf (only one known mutation, delta f508 and one unknown mutation, but 2 very positive sweat tests) Venanzio 10 wocf and Pepe wocf rents , " clairesparents " <kahartner@y...> wrote: > My daughter is one month old. She was born with a hole in her > intestine. The surgeon is unsure as to whether it was meconium ileus > or a kink in her intestine. She has had two PKU screens which have > come back negative for CF. However, her genetic test shows two > mutant genes. She had two blood transfusion before the genetic test > was done. Could this affect the results? They are saying she is too > young to have the sweat test dones. Has anyone experienced this? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 17, 2003 Report Share Posted September 17, 2003 Hi, welcome to the list! My daughter was diagnosed, when I was 5 months pregnant, through an amniocentesis. My understanding is that the genetic testing is the most conclusive, especially if the 2 mutations are known CF mutations. I think sweat tests can be done at 6 weeks. As far as the blood transfusion affecting the results, I have no idea... Good luck, Mom to Ellie 10mo wCF & Jack 3yo noCF New Diagnosis My daughter is one month old. She was born with a hole in her intestine. The surgeon is unsure as to whether it was meconium ileus or a kink in her intestine. She has had two PKU screens which have come back negative for CF. However, her genetic test shows two mutant genes. She had two blood transfusion before the genetic test was done. Could this affect the results? They are saying she is too young to have the sweat test dones. Has anyone experienced this? ------------------------------------------- The opinions and information exchanged on this list should IN NO WAY be construed as medical advice. PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS. ------------------------------------ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 18, 2003 Report Share Posted September 18, 2003 I would think, that If she has 2 gene mutations for CF then she has CF and probably doesn't need to be sweat tested. (though CF clinic will sweat test her when she is old enough just to be sure) I don't think the PKU screens are as reliable as the genetic testing. I would think that the transfusions would only effect the test if the blood was put in and then removed immediately for testing. I hope all is well Mom of nearly 5 yrs with CF. New Diagnosis My daughter is one month old. She was born with a hole in her intestine. The surgeon is unsure as to whether it was meconium ileus or a kink in her intestine. She has had two PKU screens which have come back negative for CF. However, her genetic test shows two mutant genes. She had two blood transfusion before the genetic test was done. Could this affect the results? They are saying she is too young to have the sweat test dones. Has anyone experienced this? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 18, 2003 Report Share Posted September 18, 2003 My son was born with a meconium ileus. The neonatalogist used his negative newborn screen to rule out cf. He was wrong. Zach was 13 months old when he was dna tested for cf and he has it. The 13 months of misdiagnosis was very hard on Zach. I would ask to have the genetic testing redone if the blood transfusions are a concern, but do not assume she does not have it. Try to get her retested or sweat tested ASAP!! Sara - mommy to Zach 19 months wcf > My daughter is one month old. She was born with a hole in her > intestine. The surgeon is unsure as to whether it was meconium ileus > or a kink in her intestine. She has had two PKU screens which have > come back negative for CF. However, her genetic test shows two > mutant genes. She had two blood transfusion before the genetic test > was done. Could this affect the results? They are saying she is too > young to have the sweat test dones. Has anyone experienced this? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 18, 2003 Report Share Posted September 18, 2003 Hi. My daughter had her sweat test done at 3 weeks. Elyse was wrapped up in about 10 blankets and cried the entire time, but she produced a good sample. Good luck! Colleen Mom to Elyse, 2 1/2 w/cf New Diagnosis My daughter is one month old. She was born with a hole in her intestine. The surgeon is unsure as to whether it was meconium ileus or a kink in her intestine. She has had two PKU screens which have come back negative for CF. However, her genetic test shows two mutant genes. She had two blood transfusion before the genetic test was done. Could this affect the results? They are saying she is too young to have the sweat test dones. Has anyone experienced this? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 18, 2003 Report Share Posted September 18, 2003 Colleen, Thank you so much for your reply. We are anxious to get her retested and think that the sweat test is the best way to go. > Hi. My daughter had her sweat test done at 3 weeks. Elyse was wrapped up > in about 10 blankets and cried the entire time, but she produced a good > sample. > Good luck! > Colleen > Mom to Elyse, 2 1/2 w/cf > New Diagnosis > > > My daughter is one month old. She was born with a hole in her > intestine. The surgeon is unsure as to whether it was meconium ileus > or a kink in her intestine. She has had two PKU screens which have > come back negative for CF. However, her genetic test shows two > mutant genes. She had two blood transfusion before the genetic test > was done. Could this affect the results? They are saying she is too > young to have the sweat test dones. Has anyone experienced this? > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 18, 2003 Report Share Posted September 18, 2003 , Thanks so much for your reply. We have yet to be referred to the CF Clinic so its good to know that they will do the sweat test. We, of course, are in total shock at this point in time but I agree with you that the chances that she does not have CF are very very slim. > I would think, that If she has 2 gene mutations for CF then she has CF and probably doesn't need to be sweat tested. (though CF clinic will sweat test her when she is old enough just to be sure) I don't think the PKU screens are as reliable as the genetic testing. I would think that the transfusions would only effect the test if the blood was put in and then removed immediately for testing. > I hope all is well > Mom of nearly 5 yrs with CF. > New Diagnosis > > > My daughter is one month old. She was born with a hole in her > intestine. The surgeon is unsure as to whether it was meconium ileus > or a kink in her intestine. She has had two PKU screens which have > come back negative for CF. However, her genetic test shows two > mutant genes. She had two blood transfusion before the genetic test > was done. Could this affect the results? They are saying she is too > young to have the sweat test dones. Has anyone experienced this? > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 18, 2003 Report Share Posted September 18, 2003 Sara, We have already been experiencing the same roller coaster ride. We were relieved when the screen came back negative and then a few weeks later the DNA test came back positive. We were originally told that the DNA results were 100% until the genetic doctor found out that she had received the blood transfusions. Then the second screen came back negative. We would just like to know. She is not showing any symptoms at this time. They did a culture on her stool to see if she needed enzymes but it came back negative. Did your son require surgery for the meconium ileus? When did he actually start showing symptoms? Thanks, > > My daughter is one month old. She was born with a hole in her > > intestine. The surgeon is unsure as to whether it was meconium > ileus > > or a kink in her intestine. She has had two PKU screens which > have > > come back negative for CF. However, her genetic test shows two > > mutant genes. She had two blood transfusion before the genetic > test > > was done. Could this affect the results? They are saying she is > too > > young to have the sweat test dones. Has anyone experienced this? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 18, 2003 Report Share Posted September 18, 2003 No Zach did not need surgery. He had special enemas that disloged his blockage. He really did not show any obvious cf symptoms. His symptoms were all things you would expect from a premature baby. He had reflux and slow weight gain. At ten months old he stopped gaining weight all together and his stool had a yellow oil in it. It was like he had liquid butter in his poop (sorry so gross). Finally at his one year well baby check up I demanded (like a crazy woman) to have him dna tested and three weeks later we knew. Zach was able to gain weight without enzymes for a long time. I am told that is not uncommon in cf babies. I always said that the NICU roller coaster was the worst thing a parent could go through, boy was I clueless or what?! Hope you continue to get more negative test results. Sara > > > My daughter is one month old. She was born with a hole in her > > > intestine. The surgeon is unsure as to whether it was meconium > > ileus > > > or a kink in her intestine. She has had two PKU screens which > > have > > > come back negative for CF. However, her genetic test shows two > > > mutant genes. She had two blood transfusion before the genetic > > test > > > was done. Could this affect the results? They are saying she is > > too > > > young to have the sweat test dones. Has anyone experienced this? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 18, 2003 Report Share Posted September 18, 2003 My son had a sweat test ran at 10 days old. It can be done it is just not as easy. He also had a hole in his intestines they called his Meconium Peritinitis. His corrected itself in utero however meconium leaked into his gut. They did surgery to correct a malrotation at the area of leak. Ashauna mom to Maxwel and Colgan with CF Quote Link to comment Share on other sites More sharing options...
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