Looking for Help/Clarification on CF
- Thread starter Kathryn Sneed
- Start date
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windex125
Guest
I was diagnosed as a infant under 6mts.? failure to thrive and constant breathing problems. This was 1954 and the sweat test back then was ???? anyway it came back borerline, we went to clinic every month, got meds and left the one thing I remember is my doctor's name Dr. Allen and that every time I went there was always another child missing? I had a favorite his name was Calvin and one year he was missing as well. He was a young black child, this was always stated as a white disease??? When I was 8 they repeated the sweat test and was told not to come back as the test was borerline again. But I lived the life of a sick child and young adult. We were quite poor and my Mom just did not know any better.she believed them so I went untreated for years. It wasn't until my mid 20's after removal of my gall bladder that the surgeon suggested a CF clinic after I told him some of my history. I started at a CF clinic at that point and took it upon myself to get the proper care, still borderline sweat test and only lung issues at that point. I think I was in my early 30's that my doctor finally ordered a full panel blood work where they found my second mutation, but I also made a trip to UNC at Chapel Hill and they did what was called a nasal choloride test, which came back positive for CF. Many years have passed, much progress has been made. I now have the digestive issues as well, and a lot in between but I also turned 60 in December. I am sure this is so hard on parents today. We know early intervention is the best, finding answers and getting your baby the proper care. I really hv no idea how I am here today typing on this site, considering so much neglect in my healthcare. Please give yourself credit for doing all you can to this point. Don't be so hard on yourself, and also trust yr. instincts as well, we put our faith in the medical field as they are more educated than we are, but if it does not feel right. question all that is being done. I will pray for you. Sorry this sounded like a short story of me, that was not my intention. Every case of CF is different. Pat
Simba15
Member
,
Mine can. She has a masters degree in cellular biology, same as dr freedman, and knows more than my MD's. Freedman was impressed with her.
Kathryn Sneed
New member
Thank you for sharing your story!
Aboveallislove
Super Moderator
Either the clinic or the insurance company likely has a policy of starting with 30 or 100 before ordering the full sequencing. The full sequencing is much more expensive and likely takes a lot longer and is only down in a few locations so the doctors likely are "playing the odds" to try to get a quicker and cheeper answer before doing further testing. Of course they aren't the ones having to wait it out!!!! Hang in there mom. Hugs and prayers,
Love
So as I'm reading through this thread, I see this and it reminds me of something I encountered while going through the steps of referrals, etc.
The baby was about 8 weeks and her Dr wasn't in so we were seeing the Nurse Practitioner. She didn't know what CF was, asked me to describe what it is (how do these people get licensed!) and then asked me......
If I smoked during my pregnancy.
In all seriousness, it saddens me at how uneducated the majority of our Drs up here are, and I fear so many people slip through the cracks, continuing a downward spiral in disease and illness when it comes to proper diagnosis and care.
Kathryn Sneed
New member
Hi I wanted to give an update. They DID check for all mutations and she has none. However they are concerned with her intermediate test result and want to do the sweat test again. They said there other rare things that can cause an intermediate sweat test and if she has an intermediate test again then they will check for those things. Is it possible she could have CRMS or not likely with no mutations? Should we seek out seeing an actual CF specialist if she has another intermediate sweat test? The pulmonologist says that she can't have CRMS without at least one mutation, but the CF website says one cane be diagnosed with it due to intermediate sweat test. Thoughts?