negative genetic testing, two postive sweat tests

[uncertainty]

Thank you so much Momofmia. It's heartbreaking to hear of your daughter's struggle, and I hope you are able to soon receive a diagnosis that will help with medications. I have been prescribed Pulmozyne in the past, and it was not covered for me, as many other things prescribed in the past. It makes treating things complicated, at best. I was disappointed when I was evaluated at Duke, but now, I feel that a CF eval was not really done, but rather a search for Vocal chord dyfunction was their intention. I was unable to tolerate the methacholine challenge test, but I do not have VCD. I also show no evidence of relux disease. Genetic testing again was negative, though I am not sure how many mutations were tested. No one suggested a nasal differential test, or any further work up. I was told to repeat my CT to makes sure the infection cleared up, and eventually, it did. But these infections are a chronic problem, since childhood, and seems there must be something underlying that causes this. It is hard for me to think that it is my asthma alone causing it all, but I suppose it is possible. I don't know anymore, and honestly, when it comes to my own condition, I'm tired of MDs going back and forth, and I was disappointed to know Duke did not evaulate more. That said, please know that I DID NOT see a specialist from the CF clinic, I saw an asthma/allergist, so that may have made a difference. Again, I'm just not sure anymore.
I feel incredibly fortunate when I read the posts on this site. There are so many dedicated parents fighting for their children's care, and there are so many whose health conditions are not even closely comparable to mine. Mine have been minimal, most all being respiratory, andI have been able to enjoy many things that other have not, and I carry much gratitude for this.
Thank you again, Momofmia. I am holding hope that NIH or DUKE are able to help your daughter, and I hope she is getting seen by a CF specialist. If I have learned anything reading this site, it is that a specialist in CF is very important. I suppose that is the next step for me ( and full sequence testing if possible). First though, I want to get my son through his test, which is being done at UNC tomorrow afternoon. I am still asking all of the Gods for a negative result, though it is scary to know that sweat test results, positive or negative, can be soooooo incredibly influential in treatment of respiratory diseases that are not considered CF related.
Wishing you the best of luck!

 

[momofmia]

I will pray for your son. If he does test positive at least he will be able to receive the medications he needs to keep him healthy and you will not feel so helpless. Please keep me informed of his test results.

Wishing you peace.
Lisa
momofmia

 

[uncertainty]

Thank you so much momofmia . . . . . .my son's sweat test is negative, thank all of the Gods! I hope and pray you will soon have better answers for your daughter and that she receives the right treatment for her symptoms. Being in limbo with CF or CFTR metabloic disorder has a "hell" of its own, as there seems so much inconsistency in what MD thinks what, even among the experts. I feel suchgratitude that I will not need to endure this with my son, and my heart goes out to you and your daughter. There have been some great strides in CF treament, and hopefully, that will some day spill down more into those left in the gray. I'm guessing genetics has a long way to go before they know everything about it, as they have discovered sooooo much within just these few years. Hold onto hope, Lisa, because really, it the most consistent thing we've got. Thank you to all who replied and listened to my fears and worries.

 

[LittleLab4CF]

For those with the patience to read my lengthy posts have accurately deduced I am a professional geneticist doing CF research. I attend a few privately held conferences where works in process are presented and discussed. In short I am privy to a lot of unverified research. A number of these are seeking peer review as a step toward publication some have overwheming data, have had their research independently repeated to validate the conclusion(s) for final vetting. I have carefully selected reliable examples in the ongoing research to speak out on the misrepresentations of CF genetics. When Gregor Mendel determined dominant vs recessive genes, the luck in selecting pea plants that present black and white dominance and recessive genetic behavior. CF genetics is most often represented in Mendelian black and white terms. Sadly medical professionals subject their patients to a false negative diagnosis based on a required homozygous (inherited from both parents) two identical recessive mutations to call it CF. Single copy mutations and polymorphisms are categorically nullified. In short the idea is one chromosome functions properly and the chromosome carrying the mutation(s) has no effect. The CFTR gene has nearly 2000 known mutations and rare S1235R, and M470V with 5T/5T or 7T/7T polymorphisms are examples that fly in the face of established convention. I didn't anticipate people marginalized by my chosen examples desperately seeking corroborating publications to wave under the noses of their physicians in effect demanding a CF diagnosis. In my own research into S1235R, I have established that at a minimum, it is just as active as the function imposed by the healthy CFTR gene. My research is at a minimum, is two years away from publication so I warn this is squarely unreliable though I know one redundant research is far further along and their unreliable results point toward a very busy mutation possibly overwhelming the functioning gene.

Please accept my sincere apologies for speaking out of school especially since I have people asking for publications to share with their doctors or their childrens' pediatritions. To that end I am putting my full efforts to rectify any harm I perpetrated. I have emailed a number of my peers to update me on their plans to publish emphasizing a renewed urgency. If and when I have source articles, I will try to propose a forum title listing where all who are desperately seeking corroborating documentation. I hope to have answers soon.

 

[uncertainty]

Thanks Littlelab4CF . . . . you have provided alot of information regarding the genetics of CF, though I admit I felt myself somewhat confused at times. I do feel that what I clearly understand now is that genetics are not all cut and dry . . . . they are not all black or white. It seems with CF, there is still much to discover, and undoubtingly, more genetics links will be found. I'm thrilled that my son's sweat test was negative and that he will not need further testing regarding this disease.

That said, I am interested in getting the full sequence testing for me because of my own history both with respiratory issues as well as two positive sweats that have yet to be proven, or even considered to be, "false". I really do not have interest in trying to get a full CF evaluation unless the sequencing comes back showing a mutation. I have never had testing for all of the 'known' ones, so it makes sense to me to obtain this before once again placing myself under the microscopes of MDs. Two evaluations for this in my adult life, and it is never a 'definite', always a 'maybe', and this because, so far, the two genetic screenings have been negative.

I have not scheduled anything with anyone as of yet, but should the test show anything once it does get completed, I'll let you know. Again, Littlelab, thank you for all the information, and it is great to know their are folks like you out there learning what you can about CF, and getting that info into the hands of the doctors that diagnosis and treat this illness. It's amazing how far CF research has already come, but still, there is much more road to travel.

Take care.