Atypical CF

[jjdust]

I am 32 years old and I have 2 sons. One was born with hirschsprung disease at 6 weeks old and was treated successfully. My wife tested negative for CF screening, however she is mexican.

I've lived a normal life, had bronchitis about 4-5 times my whole life but not chronic, since it lasted for less than 2 weeks, sinus issues maybe once every few years but quickly resolves so I can say it's chronic sinusitis. However I had seen ENT specialist and had x-ray and test and was determined to have allergies. Another thing, I have had high pancreas enzymes numbers without symptoms of pancreatitis (pain, nausea, etc...) MRCP was clear and EUS showed features of CP but no diagnosis and I did not meet criteria.

Recently I asked doctor if I could have CF sweat test and she did not take me serious, even brought this up with gastro doctor after my consultation from EUS. They say I have macrolipasmia, something like that.

My father side has no family members, same with mother however my mom said her sister died at a young age but she said it wasnt from CF.

Should I demand a test for CF, even though I do not have symptoms (infertility, respiratory issues, pancreatitis and nasal issues). I do have mild asthma but never used inhaler or had asthma attack ever, even when playing high school and college swim and basketball. I am a havery marijuana smoker too, i like to ad.

I have sever anxiety issues, especially when it comes to health. Not sure if I should demand a test for son, since he is having ear infections every few months, but doctors reassure us that it's common for babies.

Thanks

 

[Aboveallislove]

I'm so sorry for the anxiety and worry. Ear infections are not a typical CF thing and nothing you say and your wife's ethnic background all together to me say this isn't something to worry about for your son, in any way. Re you, if it makes you feel better, I'd just say to the doctor you'd really like her to order a sweat test to reassure you, because some have late diagnosis and fairly "normal lives. But also, if you feel that you might be having much of this worry from the anxiety, maybe focus on that now and hold off talking to the doctor yet. Good luck.

 

[jjdust]

Thanks, I think I will hold off on testing myself. I already tried suggsting to doctors to see to see if I should test for genes.

My son on the other hand, I asked 4 doctors about CF since my son has hirschsprung disease and it can be caused from CF.

One question, is atypical almost the same as regular CF, as far as the mechanism goes (inherited copy of gene from one parent), i know atypical is usually those who do not have typical CF symptoms but have the genes that is used to diagnosed CF. Not sure if I am making sense here, sorry.

Thanks Aboveallislove!

 

[Aboveallislove]

I just did some quick reading. I'm not a doctor so maybe they said something else. But it seems like hirschsprung disease is related to the nerve endings. It might be that there is an association in that baby's in the womb who have CF are more likely to have a blockage at birth (Meconium ileus) and that that might cause a problem with the nerve endings. At least from the wiki page on hirschsprung and the description of hirschsprung it seems to me that CF complications might cause some hirschsprung disease. But there it seems that it hirschsprung is a separate disease and that having that isn't something that triggers a concern with CF. Honestly, there is nothing you said that raises any red flags. Ear infections aren't a "cf" thing but are a typical baby thing. Our son who is 5 has never had an ear infection and he has "typical" cf. I really don't think it makes sense to push for any more testing. It is very hard worrying about little ones and having the hirschsprung at birth had to be so scary, I can understand wanting to make sure all is okay. But it sounds as it is. hang in there.

 

[jjdust]

I just did some quick reading. I'm not a doctor so maybe they said something else. But it seems like hirschsprung disease is related to the nerve endings. It might be that there is an association in that baby's in the womb who have CF are more likely to have a blockage at birth (Meconium ileus) and that that might cause a problem with the nerve endings. At least from the wiki page on hirschsprung and the description of hirschsprung it seems to me that CF complications might cause some hirschsprung disease. But there it seems that it hirschsprung is a separate disease and that having that isn't something that triggers a concern with CF. Honestly, there is nothing you said that raises any red flags. Ear infections aren't a "cf" thing but are a typical baby thing. Our son who is 5 has never had an ear infection and he has "typical" cf. I really don't think it makes sense to push for any more testing. It is very hard worrying about little ones and having the hirschsprung at birth had to be so scary, I can understand wanting to make sure all is okay. But it sounds as it is. hang in there.

Thanks again, epspecially taking the time out to look it up.

Crazy thing is, when my son did not pass his stool within the first 48 hours, it's either CF, HD or Meconium Plug. I brought this up to doctor and nurses after second day, the nurses kinda laughed at me and called me WEDMD boy. If doctor would have listend to me they would have done x-ray and seen blockage and signs of HD. Their solution was enema to get his first stool out.

6 weeks later, my son could not pass a stool for almost 4 days. We did prun juice and other OTC solutions and nothing. Finally went to ER and he was diagnosed with HD a few days later after being admitted to hospital. We were there for 3 weeks.

I worry because I am 32 and I might have chronic pancreatitis, even though I never had an attack, i dont drink or smoke. However EUS shows "features of chronic pancreatitis", I know CP and CF are closely related.