Recent content by veggiebin

Hello! Curious if someone could recommend a good ENT here in Denver. My daughter has been having horrible bloody noses that just don’t stop and repeat several times a night. We have an appt at Jewish, but not until the end of February. Anyone have experience with Dr. Kingdom? His ratings...

We had two negative sweat chloride tests on our daughter, but the doc still sent a sample to ambry for genetic testing because of clinical signs. Two pathogenic mutations were found, on separate strands (one from each parent). Ask your dr. to send it to ambry and ask for the full cftr test...

I was reading a post on DIOS from April and your comments on pancreatitis/mucus barrier. I find your posts informative, so I thought I’d ask your opinion. My daughter is in a constant state of some form of pancreatic pain. Docs don’t take it seriously, since her lipase is only slightly...

Fel - Thank you for the reply. The doctor is suggesting it because her sweat chlorides come back low, we've had it done twice, but she has two rare mutations. Before doing any tests, the doctor told her that clinically he would say she has cf. We are trying to determine whether or not the...

I was wondering if anyone on here has had a nasal potential difference test done. How uncomfortable is it? Can anyone compare it to a vocal chord dysfunction test where they put a camera down through your nose? Just wondering if it is worth having it done, the doctor suggested it because...

This thread is over ten years old, but I find it very interesting. I would like some updated information from people. My 19 yo daughter has been sick for a long time, all her life in reality, but it came to a head when she had to have emergency gall bladder removal when she was 15. Symptoms...

Kenna2 - Thank you for all of that. I did look at the med that she was given for the insomnia and it could have the weight loss effect. She was having weight issues before being on it, but that may have sent her over the edge, as she didn't have any tolerance with her being so twiggy to begin...

I have a question that relates to this thread. Has anyone with CF here been diagnosed with POTS (Postural Orthostatic Tachycardia Syndrome)? My daughter was diagnosed with that last year which led us to a CF diagnosis. The symptoms that she has that go along with this thread are: exercise...

Kenna2 - Thank you for your reply! As she is an adult, some of these questions are hard to answer, since she is more private than when she was younger, and she has been very distant lately, especially since I have asked her to be tested. She got very defensive because she wants this to be a...

My nineteen year old was diagnosed with Cystic Fibrosis Related Disease in January, has two mutations in trans on the CFTR gene. My 23 year old daughter has been worried about her weight for years, can't reach 110 lbs. She is worried that she has an eating disorder, and has been seeking...

She's being seen by a gastroenterologist. We have tried going down the reflux route but it didn't help her symptoms. Her fecal elastase was in the 400 range, so she's pancreatic sufficient? He tried her on zenpep, but it made her really sick. Come to find out two years later that she's allergic...

Thank you for responding Kenna2. I have a biochemistry degree, and I'm generally pretty good about researching things, but I just can't find anything on this. Yes. We have been to an accredited CF clinic, National Jewish, which gave us mixed reactions to the genetics. One doc said yes it...

It's been a few weeks since I posted this, and have received no replies. I have been unable to find anything in the research on these mutations together, so am thinking that there aren't any documented cases? The poly T/TG is fairly common, but from what I've read the L375F is mainly...

Hello! I'm kind of new here, been reading posts for a while but was not able to post until recently. I have a nineteen year old daughter with the following mutations: Ambry Full Gene Analysis: Variant, likely pathogenic: p.L375F; variants of unknown significance: none detected; TG...