Story of an Adult Diagnosed CF'er

People often wonder how I could go 21 years without being diagnosed and wonder what led up to my diagnosis so here is a brief, ok not so brief description.

Abbreviated Version: As an infant I had unusual bowel movements but gained weight and looked healthy. Then as a young child I developed painful stomach problems that they never figured out. About middle school I started having wheezing and was diagnosed with asthma and bronchitis stomach problems continued intermittently. I was sweat tested for CF 4 times in middle school and all were borderline passing.

In high school I started getting sick a lot and ended up with pneumonia, mono, etc. First year of college I got sick a lot but I was living in dorm. The second year I got sick enough I had to take incomplete's the first semester and finish a couple weeks late. Second semester I had to drop to a minimal course load and quit going to 2 of my 4 classes because I couldn't keep up, I could barely make it to my 4th floor dorm room (no elevator), slept for a day at a time followed by bouts of insomnia because I was so stressed over my health and suffering from migraines. I tried to bide my time until semester were out so I could go home and see some real docs since campus docs were at a loss (I had been driving home off and on to see my doctor but she was no help). Once home my 'real doc' didn't do any good even when I told her I had done a lot research and I thought I had CF (she later referred me to a shrink - nice eh?)--I ended up firing her and going to a new one who after trying to treat me with a typical round of antibiotics and nebulizers believed me.

She then referred me to an allergist, followed by an infectious disease specialist, followed by an internist, followed by a pulmonologist who finally referred me to my current CF doc - hallelujah!



Full Version: This is as much for me as for anyone else, it is very long but it was healing for me to write since for a while after my diagnosis I was pretty bitter about what I went through prior to being diagnosed.

Now looking back I am happy with my life and had I been diagnosed it would have changed a lot and I might not be as happy with life as I currently am. As a young child I had a lot of stomach problems before and through elementary and middle school. I would get bad stomach aches that would make me roll up in a ball and cry and I would go weeks basically in bed with eating only toast or broth at the coaxing of my mother and even that would cause more pain. Eventually one day it would not hurt when I ate and then I would eat a bit more and if there was still no pain then my mom and I would know I was better. Being a mother now myself I wonder if those times were harder on her than me as she was the one that got me through them and taught me to visualize myself elsewhere and breathe through the pain.

Starting in middle school is when I remember getting short of breath a lot and having problems with 'asthma' and a really productive nasty cough. I was treated for asthma and bronchitis and tried out a myriad of different inhalers to get it 'under control'. I was at one point referred to a specialist who did a sweat test for CF 4, yes count them 4 times! Each time would come back borderline +, -, or inconclusive. My mom remembers them saying that no I didn't have CF and it was possible maybe I was a borderline or mild case but they couldn't diagnose that. Keep in mind that I lived in a very rural area, we had poor or no insurance coverage through probably early middle school, and we moved a lot so I never saw the same doctor for a long period of time.

Half the doctors I did see were worthless and recommended such thing like locking me in my room because I was obviously spoiled and doing all this for attention-that was when I was 4 or t years old. I did visit different doctors and have tests run but nothing ever panned out so it was something we lived with. As I got older the breathing problems increased but there were little to no stomach problems as I had learned some triggers and avoided them thus there was never a doctor that saw me with both the stomach and breathing problems (not that I have a lot of faith they would have put two and two together).

In high school is when I started getting sick. I believe it was my sophomore year in high school I ended up at one point getting pneumonia, mono, strep throat, and a sinus infection all at the same time, I remember feeling like I was going to die and my mom took me to a new doctor who told me it was just viral and sent me home on antibiotics (already proving to be an idiot since antibiotics do no good for a viral infection) he said he would call if results came back bad showing otherwise (I now never assume all is ok I always call). Well, he never noticed when my test results came back showing mono which after walking around with that for over a month led to all the other goodies. After that I started reading and I read about re-occurant mono and how symptoms can last for a long time and you may not feel better for months etc so I thought that must be it! I convinced myself to suck it up and go on.

Through much of high school I would catch every cold, flu, and the like. I would be put on antibiotics which would get me better for a bit but my mom and I both thought it seemed like it only lessened the symptoms, I never truly felt better - we likened it to throwing a bucket of water on a burning house instead of calling the fire department.

My freshman year of college I lived in a dorm and it seemed someone on the floor was always sick and I always seemed to get it. It was at this point I was sure there was something very wrong with me that was being missed to I started reading and taking classes in hopes of one day curing myself. I went back to school my sophomore year as a resident assistant (RA) to help pay for room and board so I was living in the dorms and again was getting sick all the time. It is at this point that I started getting really sick, I would have trouble walking up to my room which was on the 4th floor (there was no elevator), I dreaded doing laundry because that was going up the stairs plus carrying clothes which I remember seemed impossibly hard. I began to feel like I couldn't keep up and I would miss classes to sleep. I got pretty sick but the campus doctors couldn't find anything, I ended up taking an incomplete in a couple classes because I was so ill and had to finish late.

The second semester was worse and I could not keep up with my RA job either, the campus doctors were positive there was something wrong with me but ran every test they could think of and came back with nothing. Since I didn't have a car it was very hard to get home but I borrowed one and drove home to the doc who basically told me it was just the way college was, it was hard but she prescribed me some antibiotics (the same ones she had been giving me past couple years which did nothing) I remember calling back from campus and pleading for something else that what she gave me was not working (I later got a copy of my medical record and read the term 'drug seeking' in there!). She also told me they just had to get my asthma under control and I would feel better! I ended up talking to an advisor on campus about my situation and since the campus docs were not able to find anything wrong and I had all but given up on my family doc I could not get a note to do incomplete's again so I made a hard choice and dropped down to the minimum of twelve credit hours which was 4 classes and I stopped going to 2 of them because I couldn't keep up with classes and my RA duties this was only to get me through the semester so I could go home and figure out what was going on.

Meantime I would cough so badly security woke me up at night because they assumed I was awake and needed to make sure I was ok or if they should call somebody - I was sleeping, well as much as you can through that. I managed to get through the semester and pass 3 of the 4 classes but it was very hard for me ordinarily being such a high achiever. That summer I went home and decided to take over my own healthcare and be my own advocate. While my mother did the best she could when I was a child she is a very nice, quiet person so I decided to pursue this in my typical headstrong manner and see what I could get done. I went to my family doctor after reading one of those articles on how to communicate with your doctor. I bulleted the points I wanted to talk to her about after reading, thinking and researching and I was confident this would work. By this point I was having: migraines, chronic pain, chronic fatigue, productive cough, anxiety issues etc etc etc. My reward for being an informed patient was her telling me she only had a few minutes so if the list was too long I would have to make another appointment (also later read in my medical record the word hypochondriac!). I walked out of the appointment with a referral to get a head CT (supposedly for the migraines), a diagnosis of Chronic Obstructive Pulmonary Disease (COPD) @ 20 years old, and a referral to a shrink that arrived in the mail a couple weeks later. I completely lost it on the doctor and fired her! Anyway I talked with my mom and we switched family physicians - again! Though I hated that family doctor I felt like was taking me back to square one with another person who didn't understand my history but at the same time I was determined this person WOULD listen to me (I felt my life depended on it - hence the anxiety).

I got in to a new clinic with multiple doctors but I got in to see a Physician's Assistant who was fresh out of school. She listened, really listened. I even told her how through my research on the internet and at school I believed I did in fact have a mild form of CF and why. She explained that she believed me, whether or not she did is debatable but she listened and cared, but she explained she had to start at square one and rule everything else out first.

So, first we did the two weeks of antibiotics and albuterol nebulizers which got me a tiny bit better but nowhere near normal, she then referred me to an allergist - wait wait wait for referral appointment 2 months later. Allergist said that while I did have allergies it could not explain the severity of my situation. Then she referred me to an infections disease specialist wait wait wait for referral appointment 2 months later they said no everything checked out fine. The next referral was to an internal specialist wait wait wait for referral appointment 2 months later nope nothing they can think of, finally next referral was to a pulmonologist. During all initial referrals and waiting I had started living at home and went back to a university in my area I was so ashamed to sit through classes because I coughed uncontrollably and I often sat in the back and would pretend to drink but be spitting everything I was coughing up into a cup or napkins, whatever I could conceal.

The pulmonologist visit was the appointment I had been waiting for so I expected great things. Boy was I disappointed! This specialist took the longest to get into and when I got there he ran a few tests and had me come back in a few weeks. While I don't remember exactly what he said because I was so disappointed he basically told me that I had 'bad' lungs with problems that would make me get sick a lot more often than others and I would have to be on antibiotics a lot and to call him the next time I got sick! (I believe he had picked up the bronchiectasis that I have but chose to treat me like an idiot and not explain anything in real terms) And with that and still feeling horrible I was sent home.

The next time I got in to see him (because I was coughing up blood and having what I now know to be pleurisy bad enough I couldn't get out of bed or talk when it happened) I was told that he had talked with a colleague of his and they wanted me to refer with a pulmonary specialist to evaluate me (he was also the area CF doctor). By this time I was so dejected that I was positive that one day I would die in my sleep and they would then go, "boy guess she really was sick". I had no hope of this specialist appointment being any different than the rest but I was able to get my appointment with this specialist very quickly I showed up by myself with no expectations.

When I showed up to the appointment (which was ironically with the same doctor that saw me in middle school when I was sweat tested 4 times) I was confronted with not one doctor ½ listening to me but a team of people all focused on me! This is the first day I met my wonderful CF care team. There was a nutritionist, a respiratory therapist, a pediatric pulmonary specialist, a nurse practitioner, and a social worker. I was flabbergasted when they said they were diagnosing me with cystic fibrosis and the other pulmonologist had already run my gene through for testing which didn't show two mutations but they were certain I had it and would diagnose me symptomatically. They started giving me a bunch of information and I started crying and they were saying how they understood how overwhelming it was and that I didn't have to start all the treatment right away and I remember smiling and explaining through my sobs that I was so HAPPY!

I was finally believed, no one thought I was crazy or referred me to a shrink or told me all my tests were fine, they believed me! I asked to start on every medication they would recommend that day! I ran home and told my mom and of course we were devastated on the one hand but ecstatic on the other to have some peace of mind. At the time of my diagnosis I believe my PFT's were in the 60's and after months of appropriate care and treatments I was well into the 90's. I was feeling better than I knew possible except that I was out of a job since I worked in a smokey bar (I know look back and wonder how I was breathing at all, of course it probably worsened my symptoms to the point I was able to get diagnosed also). My bills were stacking up, I was filled with anxiety, and I wasn't sure what to do with my life.

During all of this my wonderful boyfriend whom I had been dating a few months, now husband, stuck by me and refused to leave. I was scared and tried to scare him and shoo him off, instead he showed his dedication by proposing! He even started paying most of my bills when I had to quit my job. I don't think I could have made it through those early months without him.