Cystic Fibrosis: CFTR related metabolic syndrome & pneumonia

Just a year ago, i couldn't have even told you what cystic fibrosis was. In fact, when we were sent for Katie's first sweat test, I asked the doctor that very question. What is cystic fibrosis? Fortunately, Katie does not have CF. However, what she does have (CFTR-related metabolic syndrome) is a fairly new diagnosis. Not a whole lot is known about it. Basically, Katie has a lot of the symptoms of cystic fibrosis, but none of the bad parts of CF. But it is frustrating, trying to determine her treatment plan.

Katie's last clinic visit was at the beginning of the month. It went well :) Her test results for pancreatic sufficiency came back and Katie is no longer on enzymes. She is pancreatic sufficient! Yay! I discussed with the doctor about her ENT considering sinus surgery in the next 12-18 months. They agreed with me, that is should only be done if 100% necessary. I really don't want to start her on sinus surgeries at the age of 4! The only concern with Katie is that her weight isn't keeping up with her height, her BMI keeps decreasing. So, we are adding extra calories to her daily diet. She has also begun taking vitamins. So, it was a great visit! Our next clinic appointment is at the end of December.

This past Friday, Katie started getting congested and sneezed all day long! Her allergies were coming to life! On Saturday, she woke up with a barking cough :( I immediately put her on Xopenex every 4 hours. Sunday she woke up with a fever of 102. She was absolutely miserable. By the end of the day, I couldn't get her breathing completely controlled. It was a horrible night. I knew I should have taken her to the ER, but I was trying my best to keep her as controlled as I could at home to avoid the traumatic experience of a hospital stay. Monday morning I called the doctor's office as soon as they opened and got her an appointment with her pediatrician. The doctor confirmed that yes, I should have taken Katie to the ER the previous night. Next time, I won't hesitate. The dr did a CBC, and her white count was really high. So between that and the crackles in her lungs, we were sent for another xray. Sure enough, positive confirmation of pneumonia. Before we left the office, Katie was given a shot of a heavy dose of antibiotics and a prescription for oral antibiotics. After picking up her meds, we went home to snuggle and rest on the couch with the Disney channel.

This is the second time in three months that Katie has gotten pneumonia. And both times, it happened quickly. Allergy problems first, then the barking cough, and a fever on the third day. I called the CF clinic and left a message. Katie has had the pneumonia vaccine. I am hoping we can come up with a treatment plan to help prevent her from getting pneumonia frequently (and so quickly). Katie's pediatrician quickly taught me airway clearance to help get the gunk out of her lungs. I am supposed to ask the CF clinic to give me full instructions on airway clearance. So, it seems this has been added to her treatment plan.

Katie is doing much better today. The shot she got yesterday seems to have really helped! She is still on breathing treatments every 4 hours. We go back to the doctor tomorrow to see how her lungs are doing. Hopefully, much much better!