Like many of the other posts, this is a long story. I'll try to keep it as short as possible. I truly hope that our stories of diagnosis/misdiagnosis can help new parents out there still stuck in the system. Here goes...
I guess it all started when I had a test during pregnancy. You know, the one that has to be done at week 15. The test is supposed to test for Downes. Well, mine came back with suspect results so my OB sent me in for an amnio. The tech did an ultra sound before I was scheduled for the amnio and was able to rule out Downes from the ultrasound so we didn't go through with the amnio. The Dr. there told me that the Downes test is VERY time sensitive so if my due date was off, so was the timing of the test which can give false positive results. I left elated and didn't give it another thought. Since then, I've discovered other parents with CFers that also showed false positives on this test.
When Sean was born he was pretty darn blue. They couldn't get him to pink up as quickly as they would have liked but he finally came around and again, we didn't think any more of it. By the time we left the hospital, 2 days later, Sean was already eating ~4oz at a feeding and eating every couple of hours. The pediatrician that saw him before we left warned me that he was eating too much. Mind you not from a CF warning type of thing but because she thought I was just feeding him too much.
Once we were home he was eating all the time. By the time he was 8 weeks old he was eating 8oz every couple of hours. His poop was bulky and foul smelling but we didn't think much of it because he was eating soooooo much. Thing was, for as much as he was eating, he was a stick; about 9 lbs. at eight weeks. We knew something wasn't right.
My husband thought Sean tasted salty and remembered a PSA about kissing your baby, salty taste, maybe CF. I dimissed him but knew in my heart he was right. He did a little more research and convinced himself Sean had CF. I tried denying it to myself but I just knew he was right. At our next peds appt., we asked about Sean possibly having CF. His ped asked us if we had any family history and when we told her no, she told us to stop worrying. I held onto her words as tightly as I could but again, in my heart, I just knew.
When Sean was 10 weeks old (and 11lbs), he got a cold that he just couldn't shake. He went downhill pretty fast and his ped admitted him to the hospital with pneumonia. Of course, she still wasn't admitting to the possibility of CF. Sean continued to decline. They put him in a creepy oxygen tent and I thought I was going to die. After three days of GI tests, X-rays, heart tests, etc... They admitted that Sean needed more advanced care and that they wanted to transfer him. We got our choice of two hospitals. Both of which were accredited CF centers but I didn't know that at the time. I prepared to leave one hospital and go to another. My husband went home to pack a few things and make some phone calls in the meantime. A minute or two after he left the Dr. came in and asked me where my husband went. I explained that he'd be back shortly but wanted to take advantage of the "wait time". She then explained to me that there would be no wait time that Sean was being picked up by helicopter and beign transferred ASAP. Within minutes I heard the chopper landing.
I walked down the hallway and into the elevator with Sean and his "team". I remember all the people whispering, "Oh my God there's a little baby in there." This was what I thought to be the worst day of my life. The nurses explained that no matter how fast I drove they would still beat me to UofM so just to take my time. HA! I drove like the crazy person I was and ran every light. The nurse was right, they beat me there and by the time I got there Sean was already resting in the PICU.
The next day, a Dr. came in to take Sean's/our history. He asked a lot of questions that looking back on it, must have given HUGE RED FLAGS to everyone there that Sean did indeed have CF.
Sean was stabilized and moved to a regular room the next day where the nurses began doing CPT on him. The next day, he had a sweat test. I was sitting in his room looking out the door for some reason as the resident walked by and I overheard him say, "Oh good, mom is here." I knew it was bad news. My husband was only gone for a few seconds to get a soda so when the residents and the attending came back, he was there.
I don't remember their exact words but you know you're screwed when the attending comes along. All I remember them saying is cystic fibrosis. They said it very matter of factly and walked out. There was a nurse with the patient in the other bed and she came over immeadiately after the docs walked out and started rubbing my back. My head was down and I was sobbing. I have no idea where my husband was not because he wasnt' there but because I honestly felt like I was the only person there. The nurse only said, "I'm sorry". I wish I knew who she was because IMO she's the best nurse of all time. After a minute or two, my husband said, "It'll be ok. It's not like we'll love him any less." Though I was practically choking on my tears, I said, "I'll love him more."
The pulmonologist stopped by later that afternoon and gave us our "CF for dummies" class. It was all overwhelming but at the same time a little bit of a relief because now we knew what was wrong and what we could do for Sean.
I went home that night to get some sleep while my husband stayed at the hospital. I stood in the doorway of Sean's nursery and cried for hours.
