uncertainty
New member
I hope it is ok to post here. I have not been diagnosed with CF, however, I have also been told that there is a possiblilty that I do still have some mild form of the disease. My history is a little complicated, so bear with me. I am 42 years old now, and I underwent CF testing at UNC hospital some 15 years ago. I had two postive sweat tests at that time, yet genetics were negative.
As far as I know, I was diagnosed with asthma at around six years old. Unfortunately, my mother had many mental health issues, so regular treatment and check ups did not happen. I did have a couple of hospitalizations, and numerous ER trips.I had a long hospitalization during my toddler years for severe anemia secondary to malnutrition, and I have always been very thin, even today. I will not deny that dietary habits likely add to that, but minimally so. I had three benign growths removed from my esophagus at the age of ten. After that, I recall only a few ER trips, but no regular MD visits.
In early adulthood, I began seeing doctors. The first asthma/allergist I saw suspected CF, and sent me to UNC for workup. Pancreatic function was normal, IGE level high, chronic sinus disease present, and another infection showing on a lung CT scan. At this time, I was told my lungs showed COPD. Two sweat tests were postive, yet I was not ever formally diagnosed with anything other than severe asthma. The meds they prescribed did little for the repetive lung infections, though they were somewhat helpful with breathing. I had sinus surgery as well, and that provided some level of relief also. Even still, not much did anything to prevent the infections that often occurred in my lungs, and in my mid twenties, I had what was deemed as Guillian Barre syndrome. UNC said it likely stemmed from a pneumonia I was fighting, yet even at that time, there was some uncertainty. There were some MDs who thought I could have had steroid toxicity, but in the end, the DX was Guillian Barre. I spent a year learning to walk and use my hands again. I have been to MD very little since then. Mostly, if it has been bad enough, I have gone to urgent care places for antibiotics. I kept quiet about all the medical history as I was afraid I would not get the antibiotics, but rather get sent for a bunch of testing that never helped much.
It has been hard at times not to have a regular MD, but I have a horrid anxiety when it comes to being a patient. I lost a sister in 2007, and my griefeventually led me to seek grief counselling. Eventually, the counselling went deeper, and soon, my health was mong the issues. ThisDr. worked diligently and patiently with me to help work through my some of my anxiety with doctors. My fear is that my lung damage stemmed from childhood neglect and a very rare abuse called munchausen by proxy. The psychologist thought it was important that my medical MDs knew of this as it could be significant, and eventually, I was brave enough to try seeing one. It was fine at first, ande I felt alright telling her about the abuse. It did not seem to matter to her, so I was relieved. Over the next year or so, I saw her a few times and tried numerous reflux medications as it was thought it may help with the SOB ( sometimes caused by reflux). They never helped, and the first severe cold Igot that winter was one of the worst. She gave me steroids and antibiotics, but after finishing them, I was no better, and was in much pain. I went back, and she wanted to change the reflux meds. At that point, I told her I wanted nomore reflux meds as I did not think I even had relux. Basically, she got angry and told me I should have come back sooner if the pain was really that bad. It had been less than two weeks, and I returned after the antibiotic course. She asked what I expected her to do, and I suggested a CXR. She ordered it though stated she did not think it was necessary. The CXR was normal, and of course, I got a callincinuating the pain was from the chronic cough, and nothing more. I was instructed to take advil and do another course of antibiotics. I knew that something more was wrong though, so I went to see an ashtma/allergist. She was very thorough, noted the postive sweat tests from UNC years earlier, and sent me to DUKE for a revaluation. Duke performed a CT scan that showed a colonized infection in my right lung and a broken ribon the left. They also found no evidence of reflux, and also evaluated me for vocal cord dysfunction, which I do not have. I was tried on Xolair for high IGEs, and a repeat genetics test for CF was done, still showing negative. The xolair was disconitued after three months as all of my symptoms worsened. I have not been back to a doctor since that time, about three years ago.
I am a mother now. My youngest boy ( he is 6)has developed some respiratory issues over this past year or so, mostly a cough that seems to stay around. He has frequent nose bleed and nasal congestion, and I suspected allergies. Placing my anxiety aside to do what is best for him, I scheduledan appointmentwith the allergist I saw several years ago. I did not stop seeing her because I did not like her, I stopped because I feel very confused and uncertain about what I really have. She was very nice and was very happy to see me in her office again. She is actually good with my anxiety, and took it into account when evaluating my son. She thinks he needs to have a sweat test, and I am so terrified. And I know that it is not helpful to speculate, but I worry that if he is positive, he will also test negative genetically, so what does that leave for him? I feel no one has really ever known what to do with me, and mostly, I have felt to be more of a lab rat than an actual person.I do not want this for my son. I also realize that my own reluctance to see MD has likely worsened my symptoms, and of course, I cannot allow that for my son, either. I just want to feel that the doctors will do the right things for him.
Anyway, sorry this is long and complicated, and please accept my apologies if this is not the appropriate place to place such inquiries. I am just curious if anyone has received a CF dx without having a postive gentetics test? Two asthma/allergists believeI have some variation of CF, but UNC would not really say yes or no. Of course, that was fifteen years ago, but DUKE did repeat genetic testing nearly three years ago and no identifiable mutations were found. Any input is appreciated.
As far as I know, I was diagnosed with asthma at around six years old. Unfortunately, my mother had many mental health issues, so regular treatment and check ups did not happen. I did have a couple of hospitalizations, and numerous ER trips.I had a long hospitalization during my toddler years for severe anemia secondary to malnutrition, and I have always been very thin, even today. I will not deny that dietary habits likely add to that, but minimally so. I had three benign growths removed from my esophagus at the age of ten. After that, I recall only a few ER trips, but no regular MD visits.
In early adulthood, I began seeing doctors. The first asthma/allergist I saw suspected CF, and sent me to UNC for workup. Pancreatic function was normal, IGE level high, chronic sinus disease present, and another infection showing on a lung CT scan. At this time, I was told my lungs showed COPD. Two sweat tests were postive, yet I was not ever formally diagnosed with anything other than severe asthma. The meds they prescribed did little for the repetive lung infections, though they were somewhat helpful with breathing. I had sinus surgery as well, and that provided some level of relief also. Even still, not much did anything to prevent the infections that often occurred in my lungs, and in my mid twenties, I had what was deemed as Guillian Barre syndrome. UNC said it likely stemmed from a pneumonia I was fighting, yet even at that time, there was some uncertainty. There were some MDs who thought I could have had steroid toxicity, but in the end, the DX was Guillian Barre. I spent a year learning to walk and use my hands again. I have been to MD very little since then. Mostly, if it has been bad enough, I have gone to urgent care places for antibiotics. I kept quiet about all the medical history as I was afraid I would not get the antibiotics, but rather get sent for a bunch of testing that never helped much.
It has been hard at times not to have a regular MD, but I have a horrid anxiety when it comes to being a patient. I lost a sister in 2007, and my griefeventually led me to seek grief counselling. Eventually, the counselling went deeper, and soon, my health was mong the issues. ThisDr. worked diligently and patiently with me to help work through my some of my anxiety with doctors. My fear is that my lung damage stemmed from childhood neglect and a very rare abuse called munchausen by proxy. The psychologist thought it was important that my medical MDs knew of this as it could be significant, and eventually, I was brave enough to try seeing one. It was fine at first, ande I felt alright telling her about the abuse. It did not seem to matter to her, so I was relieved. Over the next year or so, I saw her a few times and tried numerous reflux medications as it was thought it may help with the SOB ( sometimes caused by reflux). They never helped, and the first severe cold Igot that winter was one of the worst. She gave me steroids and antibiotics, but after finishing them, I was no better, and was in much pain. I went back, and she wanted to change the reflux meds. At that point, I told her I wanted nomore reflux meds as I did not think I even had relux. Basically, she got angry and told me I should have come back sooner if the pain was really that bad. It had been less than two weeks, and I returned after the antibiotic course. She asked what I expected her to do, and I suggested a CXR. She ordered it though stated she did not think it was necessary. The CXR was normal, and of course, I got a callincinuating the pain was from the chronic cough, and nothing more. I was instructed to take advil and do another course of antibiotics. I knew that something more was wrong though, so I went to see an ashtma/allergist. She was very thorough, noted the postive sweat tests from UNC years earlier, and sent me to DUKE for a revaluation. Duke performed a CT scan that showed a colonized infection in my right lung and a broken ribon the left. They also found no evidence of reflux, and also evaluated me for vocal cord dysfunction, which I do not have. I was tried on Xolair for high IGEs, and a repeat genetics test for CF was done, still showing negative. The xolair was disconitued after three months as all of my symptoms worsened. I have not been back to a doctor since that time, about three years ago.
I am a mother now. My youngest boy ( he is 6)has developed some respiratory issues over this past year or so, mostly a cough that seems to stay around. He has frequent nose bleed and nasal congestion, and I suspected allergies. Placing my anxiety aside to do what is best for him, I scheduledan appointmentwith the allergist I saw several years ago. I did not stop seeing her because I did not like her, I stopped because I feel very confused and uncertain about what I really have. She was very nice and was very happy to see me in her office again. She is actually good with my anxiety, and took it into account when evaluating my son. She thinks he needs to have a sweat test, and I am so terrified. And I know that it is not helpful to speculate, but I worry that if he is positive, he will also test negative genetically, so what does that leave for him? I feel no one has really ever known what to do with me, and mostly, I have felt to be more of a lab rat than an actual person.I do not want this for my son. I also realize that my own reluctance to see MD has likely worsened my symptoms, and of course, I cannot allow that for my son, either. I just want to feel that the doctors will do the right things for him.
Anyway, sorry this is long and complicated, and please accept my apologies if this is not the appropriate place to place such inquiries. I am just curious if anyone has received a CF dx without having a postive gentetics test? Two asthma/allergists believeI have some variation of CF, but UNC would not really say yes or no. Of course, that was fifteen years ago, but DUKE did repeat genetic testing nearly three years ago and no identifiable mutations were found. Any input is appreciated.