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???
19 comments:
Be a pain. Be satisfied with your conclusions and answers you are given. NEVER back down from and MD. I'm a nurse, I implore you to second guess and get every test you want.
I would try to get some further genetic testing, since it seems that every year the parameters are changing, and write to pulmonologists at other centers to see what their recommendation is. 58% is a very low reading for an asthma patient.
I hope that you get some more feedback here.
bp
For myself I would get the blood test done to test for all the mutations and make sure he doesn't have CF, to ease your mind somewhat. Second, I would definitely test for the bacteria you have. Third, I've heard of CF carriers having CF symptoms I don't know if this is what you mean with asymptomatic CF. I think definitely he needs to be looked at further.
I would definitely at least get a culture and genetic sequencing done. Some people have CF but it doesn't show up on the sweat test - not until the full Ambry test is done. (The Ambry test tests for over 2,000 CF mutations.) Carriers can have some symptoms, but I've NEVER heard of any that severe - all of my relatives who are carriers have some sinus issues, a few of them have very mild asthma, and a few of them have some GI issues, but they all have totally normal lung function. 58 is extremely low for asthma. That said, there also are a few other things I thought of while reading this - first, not everyone responds to albuterol. Have you ever tried him with a different bronchodilator? It might help. Second, kids don't always have readings that are as high as they should be because they're not as good at blowing, especially if they don't have CF and have a ton of practice! ;) It definitely sounds like there is stuff going on, though. I would keep pushing! Whether or not it's CF, it sounds like he's not getting the treatment he needs, period.
I'd rather be an overwhelming parent than an underwhelming parent when it comes to potential diagnosis. You know your kids and you know somethings off right now. Follow your gut, Stacey.
Sending you lots of love.
I would definately push for the Ambry genetic testing for ALL of the genes and get cultures. Good luck Stacey!
I know nothing about CF besides the little bit of info you have provided. I do know that you are talking about kids. Kids that you need to advocate for. You are their voice and if you are not satisfied with the answers that you have been given, then you continue to be a pain in the a** until you are satisfied. What will happen if you are a pain and turns out to be nothing? What if you are not and it turns out to be something?
Follow your gut Stacey, it's most likely right. I would first start with re-doing sweat test, and then genotype testing. Your children's health is more important then what people think about you being a "difficult" mom.
My daughter passed away from cystic fibrosis in 1992. She was 12 years old. My son is not a carrier, but my daughter is and she has symptoms of cf. I have read in medline that carriers of cf can have those cf type symptoms. Since I was in elemetary school I've suffere with stomach problems. My mom had me at the doctors and I can't tell ya how many times I've drank that chalk stuff to have my stomach x-rayed. My husband sweats really bad...but we are carriers. For your children I would definitely get them genetyped; have them check for any cf gene. Also, you could be right about the bacteria thing. I'd definitely have them both cultured for it.
I have had repeated sweat tests and none have been positive, all have been on the limit or negative, however I do have CF, have had a full genetic testing, postive for two mutations, I definitly think you should go for the genetic testing, good luck.
Thanks everyone! I have called the Pulm this morning to get things moving forward with further testing...even though I'm nervous about what they may find... I'm praying that call continues to be negative and they truly just have Asthma that needs to be managed.
Cindy, I thought about the fact that he may have done the PFT's wrong, too. It's certainly a possibilty. However, he did 6 blows total and they were all pretty consistant with one another. I don't know...
I'll keep everyone posted, for sure!
I don't have kids, but I think that you know your kids better than anyone so you should follow what your gut tells you to do.
Don't you have a more rare mutation of CF? Is it possible that wasn't a mutation that was tested for? Even if it isn't CF related, maybe it will lead to different meds that help them feel better.
Kristin, I have Delta F508 and R117H. The R117H is a milder gene, but it's not necessarily uncommon. It's one of the 4 or 5 more common one's. I called this morning and asked if I could take them to the lab to get the Ambry test done, so hopefully that will be a go. I'll keep you posted! Thanks for reading :-)
My son had a normal sweat test; however, genetic blood testing showed otherwise. He has fairly common mutations.
I do know of a mom wcf whose husband also went thru carrier testing and was told he wasn't a carrier. She wanted to know for sure after her child was born to rule out CF once and for all -- had testing for all known mutations, plus deletions, etc. and it turned out that her child did in fact have CF. I believe her name is Lauren. Check out cystic fibrosis dot com I think she spoke at the NACF this year
I would definitely push until you're satisfied. Hopefully you get some good news back re: Ambry. Thinking about Jake and hope he kicks whatever is going on right now in his little lungs :)
I haven't read all the comments so I apologize if I repeat.
I would ask for another sweat test for sure. I had one last year and I don't remember cotton being involved at all.
Also, get a culture. See if you can drop one off for them. Pick up a sample cup and then drop it back off. Or go in quick just for that.
And I would look into the genotyping for sure.
Many hugs!
Looks like everyone gave you good advice. Cover every base and be agressive. I agree that low PFT is odd for your son when you take into account the CF link. And have him tested for MAC. It sounds like your mommy intuition is right on with your children. No one knows better than you do if something isn't right. However, it may not be CF. Could be other things. Give the docs the info and let them diagnose, but have them do what you need to them to do.
Wishing for the best possible outcome for your kids.
Hi Stacey!
Last winter, my son was sick the entire time with bronchitis and other lung infections. He couldn't sleep at night and was coughing constantly after several courses of antibiotics. I had heard of a couple CF moms who gave birth to CF children, even after their husbands tested negative for the top 85 mutations. So that got me concerned. I knew the chances were not likely, but there was still that chance that he might have one of the other mutations. In fact, he had always had a very bloated-looking stomach since he was born as well. So I asked the pediatrician about testing him for CF, and she was totally against it. She said it was so unlikely that he had CF and that she was sure his lung issues were just acute infections. But I needed peace of mind. So I asked my CF doctor to test my son with the full Ambry genetics testing with sweat test. His sweat test was negative at 8 and his Ambry came back negative as well! But let me tell you, it was the best decision we made to get him tested. Even if you have the speck of doubt in your mind, it will let you have peace about the situation just knowing that it's negative...then you KNOW you are simply dealing with something else that needs to be treated (asthma, etc). If you want to be sure - just have the genetic testing done! I highly encourage you to do it because I went through the same struggles as you just 8 months ago and now I'm content knowing it is truly negative. Good luck!
I know how you feel regarding not wanting to be the pushy parent, but look at it this way; it's your job. It's much easier to get over the regret of being known as pushy than the regret of knowing you could have done more and didn't.
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