Saturday, July 17, 2010

Clinic visit...and more testing?

I had a clinic appointment earlier this week and, first things first (is that a real saying? After I typed that I started second guessing myself...) I'm very happy to say that my PFT's are still very close to what they were in April. A big improvement would have been nice, sure, but when you take into consideration the health scare I had last fall, plus the fact that CF is a progressive disease, I'm definitely satisfied with maintaining a decent lung function at this point.

Something that was brought up during my appointment is the fact that, as many of you already know, Ultrase didn't get their FDA approval, so I'll be needing to switch enzymes. (For those of you who don't know, most CFers take enzymes each time they eat to aid in the digestion and absorption of food and nutrients. There are several different brands of these enzymes and they all work differently in each individual. Once you find a brand that works for you, it's generally a good idea to stick with it.) I've been on Ultrase forever! At least the last dozen years or so. I'm definitely not looking forward to experimenting and figuring out which approved brand and dosage will work best for my body. Fortunately, we knew this would likely be the case, so at my April appointment I was advised to get as many Ultrase as my pharmacy would allow. I was able to get an extra (almost) three months worth of enzymes, so I won't need to make the switch right away.

There was another issue that I wanted to be certain I discussed with my team, but before I tell you about it let me back up a bit. When I was pregnant with Morgan we were obviously concerned about the possibility of her having CF, so Adam had the 32 gene mutation panel test done. He was NOT found to be a carrier of any of those mutations and at the time we were both satisfied with that. However in the months since then, I have become so much more educated about this disease (thanks in large part to all of YOU) and after discovering just how many mutations exist (somewhere around 1500) I'm no longer satisfied with the minimal amount of testing Adam had.

I've expressed my concerns about this in the past and they have been completely dismissed with a quick "she's growing fine" or "you're just being paranoid". The truth is, I've tried to convince myself of the very same thing time and time again. I've tried shutting that door and locking it, but my mind always finds a way to pick the lock and before I know it the door is wide open and I find myself wondering again, WHAT IF? Recently, Morgan's doctor and I were discussing which antibiotic to put Morgan on this time and I felt it again, this voice inside me saying something isn't quite right, here.

She has been sick enough to require antibiotics five times in the past nine months. Granted, most of those instances involved ear infections, but not all of them. Her lungs have also been compromised by infection two times, one of which required the use of antibiotics and steroids before she finally started feeling better. Sure, she's growing fine (some have used the term "chunky") and it's true that kids just get sick sometimes, but this particular kid also happens to have a mother with a genetic disease. A disease whose symptoms are not entirely unlike symptoms the child has been showing. Doesn't it make sense to look into that a little further? For a mother's peace of mind, at the very least? I brought this up at clinic again and this time I was a little (maybe a lot) more pushy about what I wanted. Although I didn't get definite answers, I was finally able to get pointed in the right direction. 

In early 2009 cystic fibrosis screening became a mandatory part of the newborn screening test, meaning that every child born (in a hospital) in the state of Utah is now tested for CF at birth. This particular test screens for elevated IRT (immunoreactive trypsinogen) levels which is very common in infants with CF. The test is extremely sensitive, often producing irregular results for even healthy babies, so if the original test comes back irregular, a repeat screen is collected after 7 days and prior to 6 weeks later. (The elevated levels of IRT in infants with CF decrease to normal after the first several weeks of life, so there is a time limit for this particular form of testing.) If there are two irregular test results, the infant is sent in for a sweat test. Two irregular IRT screens and one positive sweat test warrant a diagnosis for CF. This method of testing costs considerably less than genetic sequencing or the Ambry (a very extensive test, which not only determines if someone has CF, but also identifies which mutations they have) and although it's not as definitive, I feel like it's a great start. I will be taking Morgan in for her one year old check-up in a few weeks, where I'll ask (if necessary, demand) to see the results of her IRT screen and then we'll decide the best course of action from there.

Other than that, there isn't much to report. It was nice to finally have someone actually hear and validate my concerns about Morgan, and also nice to see that my numbers have stayed up. Next time, they'll be even higher...


  1. So glad clinic went well!!! I have faith that those PFT's WILL go up!!! You keep working like you are and finding new things to try.
    So proud of you for pushing for CF testing for Miss Morgan. Your brain will be so at ease once you find out!!! Don't forget that carriers can present with some of the symptoms of CF, so there is still hope!!!

    blessings my dear:)

  2. I hear ya on the enzymes. I was on pancrease for as long as I can remember and then I started on zenpep. Honestly the first month was kinda rough, but I love them now even more than the pancrease.
    I hope Morgan isn't sick, but I completely understand what you mean. When Lily was newborn she was really mucusy (apparently that's normal) but I just knew... J had the same test done and his was negative also and the newborn screen came back perfect and my cf doctor told me it sometimes even picks it up if the baby is just a carrier. I do think Lily has asthma though because if she runs alot and gets really hot she coughs sometimes and sounds a little wheezy but not too bad.

  3. Hi Jenny,
    My name is Cynthia and my neice Kaitlynn is 14 and has CF. She recently moved in with me. I wanted to thank you for telling your story through your blog. I can't wait to share with her a person who is married and has a child. She seems as if not to see much into the future and seems to be reluctant to take her meds or do her treatments. I am not sure if she is angry about the CF daily routine or the recent family dynamics that resulted in her moving with me. I am so excited for her to see your blog and realize she can have a future of happiness awaiting her.
    Thank you
    Cynthia~Belleview, FL


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