D1152H and G85E
Hello, my son (5 months plus) has inherited the D1152H and G85E mutations. His sweat test at 14 days old came back borderline at 33. His first two fecal elastase tests came back borderline, but his most recent test came back normal. Overall he has been healthy thus far. Any info on these two mutations besides what is available on the CFTR1/CFTR2 websites? I have read that D1152H is a class IV mutation, but I have seen G85E characterized as class II, III or IV on different websites. Is there a possibility for Kalydeco working on either mutation? Thanks for any info. This is a wonderful site! (I apologize I entered this question anonymously first).
Mutations del F508 and 4382del
What are the implications of having the combo of these 2 mutations for my niece in terms of physical effects, severity or mildness, and outcome? I have found only a little on the 4382del mutation on the internet and 2 individuals are living past there 50s. Thank you for any and all information on the combo of these mutations.
Pulmonary rehab for CF patients
Can you send me the latest guidelines or focused reviews on pulmonary rehab and CF Patients? Or just plain pediatric pulmonary rehabilitation.....
Negative for R117H, positive for 5T
Hello Doctor, We are trying to find as many information possible about this, because we are going to do IVF in the next weeks. Both myself and my husband tested positive for the 5T allele, but negative for the rest. I was wondering what are our risks for our baby? All that I found is that we have some risk of having a boy with CBAVD but our CF risk is almost none. Am I correct? Can you provide more info on this and what we can expect? Thank you VERY much! M
nutritional supplements
I have a grandson 8 years with cystic fibrosis. When it prevail problems with the pancreas. Would it just be given a dietary supplement okra pepsin Eze for clearing the accumulated mucus? Thank you.
how serious
my daughter has g551d and 3659del severe is this?
cistic fibroses
DEAR EXPERT TEAM i would like to know more about the availabilty of Kalydeco in Bulgaria and if there will be any point for someone suffering from CF with mutation 621+1G/T,N1303K to try this medication.and also if not suitable what other treatment should we look for in order to keep quality of life better? LOOKING FORWARD FOR YOUR ANSWER GALINA YOVCHEVA +
felopian tube
I am 31years old and i had an ectopic pregnancy before,now i have only one and my boyfriend are trying but i cannot get pregnant. I think that the tube i have left it may be blocked wich i checked and it says that it is not 100percent blocked. My question is ,is there any treatment for that? Thank you! Robu iolanda
newborn with Del f508 and 5T-TG12
Hello My baby boy was screened in California and tested positive for Del F508 and 5T-TG12 variant. His initial sweat test was 20 at 5 weeks of age. Therefore, he is not classified as CF but will be monitored throughout his life. I understand his mutations can put him into a healthy or mildly sick group depending on the amount of working mRNA. Questions: 1. Are there any tests that can determine whether his combinations will affect his CFTR function? At what age? 2. At what age can we find out whether he is infertile? 3. Do all people with this combination have symptoms or some are completely healthy? How many have only infertility, and how many show lung issues? 4. What is MILD cf? How does it express? I understand this combination probably won't cause pancreatic problems, but mostly lung issues. Is that correct?
Echogenic bowel
Since the 24th week of pregnancy, our unborn first child has had an echogenic bowel. After infections were ruled out, and chromosomal aberrations, bleedings and placentar insufficiency were regarded as very unlikely, we had our blood tested for any CF mutations. My husband was found to have dF508, and I R1162X. It is now week 33, the bowel is still echogenic but not dilated. How high would you presume the chances of the child not having CF to be? We are aware of the 25% chance of CF just because of our mutations, but how high is the probability of CF knowing the child has an echogenic bowel? Thank you very much!
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