What Would You Do?

I've never really shared information about the health of my kids on here before, but I feel like I'm at a point where I need to make some decisions and I'm looking for some advice.

Both of my kids...Emma (age 9) and Jacob (age 5)...have had troublesome lungs their entire lives.  Prior to having children my husband was genetically tested to see if he was a carrier of CF, which he was determines not to be.  At that time they only had the test that identified 83 of the most common genes.  Now, they have a test that can identify more than 120 genes.  I had always been fine with the 83 gene test, especially after both of my kids were sweat tested and came back with relatively low scores.  They are both carriers of CF, but they do not have CF.  This is what I have always been told, so this is what I have been going with for years. 

However, lately we have been less and less able to control their Asthma.  Since October 1st my son has had 3 prednisone bursts, 2 ER visits and 4 rounds of antibiotics.  We can't find the antibiotic that will clear his lungs. We're currently on Biaxin.  He honestly sounds like a full-fledged CFer.  My daughter has had one round of steroids and one round of antibiotics, but she has been needing to go to the nurses office during the school day almost every day for albuterol and needs her rescue inhaler from time to time at home.

I had been taking them to our general pediatrician who has some experience in Asthma for several weeks.  More recently I was able to get them in with their pulminologist.  I adore their pulmonologist.  For many years he was a CF doctor at the CF clinic I go to...  Unfortunately, my children can't go to my clinic, since they have insurance through my husband and he works for (and has insurance that only covers) the competing hospital system.  I feel comfortable taking them to this pulmonologist, though, since he has a CF background.  I feel like he would be able to see if there is ever a connection between their lung issues and my own. 

So, we get to the appointment and the kids have their initial Pulmonary Function Tests (PFT's).  The goal is that they reach 100% of the predicted value that was determined by their age and weight.  My daughter went first and blew 70%.  My son did worse, only blowing a 58%.  I was SHOCKED.  The little guy is only 5 years old...how can he only have 58% lung function. 

The doctor explained that with Asthma they focus less on the numbers and more on the change that happens after albuterol is given and the tests are repeated.  The change for my daughter was significant.  She went from 70% to 100%!  This pattern showed standard Asthma.  We switched around some of her daily medications and increased the doses of others.  I felt very comfortable with this plan. 

My sons PFT following albuterol only increased a bit...he went from 58% to 62%.  This frustrates me.  The doctor explained that it is likely because he is going through an acute illness and when we can get that figured out with the right antibiotic he should improve.  I don't know...

The doctor was limited in his time, but I asked him if my kids...Jake in particular...might have something I have read a little about call "atypical cystic fibrosis".  This is a condition where someone displays CF symptoms when all tests reveal that they are only carriers of the disease or they have non-typical symptoms.  My children are both carriers, this we are sure of.  The doctor said that the lower sweat test results indicate that atypical CF is likely not the case.  He said we could genotype them when I come back in a few months to determine the type of gene they got from me. 

The other thing I have thought about is whether my kids (particularly my son) may be dealing with the mycobacterium that I've had for a while.  I know non-CFer's can contract this infection.  My kids have been exposed to the same environment as I have, so they likely have come in contact with myco.  I'm kicking myself for not asking for a simple culture.  My son certainly has enough of a "sample" to provide.  My own CF doctor told me to get this done during my kids appointment and I completely forgot. 

Since the appointment I haven't felt satisfied.  I have been wondering if sweat tests are ever false negative.  I remember the nurse during my sons sweat test commenting on how she was unsure if she got enough sweat for his sample...the cotton was pretty dry.  Could this make the reading lower, or would it just turn out to be unreadable?  Does it matter if they label what they have as atypical CF?  Would their treatment plan be any different?  Would they benefit from being treated more like a CFer?  I'm just not sure... 

I'm looking for advice on what you would do in this situation.  I don't want to be one of those "difficult" mom's by continually bringing up this issue, if I've already been told it's not likely.  However, my gut tells me there might be more to the story with Emma and Jakes' health.  Johns Hopkins is doing a lot of atypical CF research.  Do I even go that far to get another opinion? 

What would you do???

Why I Fight...Blogger Challenge

Why I Fight for a Cure for Cystic Fibrosis...

When I was born in 1975 the prognosis for Cystic Fibrosis was very bleak.  I was always painfully aware of the current life expectancy and I always had a hard time envisioning life beyond that age. 

Yet, I know that I have shared here before that I feel like one of the "lucky one's".  I have worked hard at staving off CF and for the most part it  has steered clear enough for me to reach milestones that my parents once thought would have been impossible. The current life expectancy is 37.4 years.  I turn 37 next year.  I no longer have trouble imagining a life beyond the life expectancy.  I feel pretty certain that CF won't take me anytime soon. 

So why do I fight for a cure?  I fight for a cure so the next generation of kids with CF can suffer less and live longer.  I fight so new parents of babies with CF don't have to worry about out-living their children.  I fight so this nasty disease can be beaten into submission.  I also fight for all of the amazing men and women I have met with CF who work so very hard every day to stay alive.  I am hopeful that someday in the neat future we will all be able to live without having to work so hard at it...

Please take a look at this video that was put together by my friend, Emily's, family.

Emily's Entourage Video

Then take the challenge below!

Here are your official rules for participation:
1) View Emily's amazing video here, then consider making a donation of your own or "liking" her page on FB (neither is required, but both are encouraged!).

2) Create your own blog post, FB status update, or other form of social networking tool (letter, email, whatever). In the body of the message, place a small paragraph of why YOU fight for a cure for cystic fibrosis and why this cause matters to YOU. This can be your CF story, your wish for the holidays, your version of community -- whatever.

3) Link to Emily's Entourage Website and encourage your own readers to take up the challenge.

4) Comment on Piper's blog here with a link to your blog a message about how you shared this vision for an automatic entry into a drawing for a very special CF/transplant-awareness prize package, including gifts from iheartguts.com, apparel, and other fun goodies!

5) Re-post these rules on your own page.