Could we be on the road to CF?

RebeccaRose · Feb 25, 2012

Hello everyone. First let me beg your forgiveness for this very long post! <img title="Embarassed" src="include/wysiwyg/tinymce/jscripts/tiny_mce/plugins/emotions/img/smiley-embarassed.gif" alt="Embarassed" border="0" />! We are on a journey with our 7 yr old daughter and I am wondering if it might be leading to CF. Here's some history on her:
She's 7 yrs 8 months, 48 lbs, 47”. When she was born she was 7 lbs 18 3/4”. Keep in mind I am only 5'1”, my DH is only 5'3”, my 14 yr old DS is 5'3”, my MIL is 4'11” & my mom was about 5'3”, so we are a bunch of shorties.
She's had problems w/ constipation since 5 days old. Had tubes put in at 18 months. Had a tough time feeding as a baby... crying screaming very gassy would suck bottle a few minutes then refuse to drink any more. Dr just said colic... went through this for months. At 8 months old she had tests done by pedi gastro dr, had 24 hr PH probe, gastric emptying study & endoscopy. All were normal. Once baby food and solid food was introduced she'd get red rough rash around her mouth with just about anything, even stage 1 carrots. She never lost weight as a baby or child but was/still is low on the percentile scale. Got hives at 18 months after eating walnuts, so labeled tree nut allergy, but never confirmed w/ testing.
She has been on ½ dose of Miralax daily for the past 3 yrs for the constipation. There is no going off it or her BM's are huge and she gets so backed up she ends needing an enema. I do have to say she is not a good drinker. It is a daily battle on my part to get fluids of any kind in her. She's not defiant or anything just has to be “encouraged” all day to drink, drink, drink. If I were not the drinking police she would easily go all day all meals barely drinking anything. She has had a lot of complaints of tummy hurting and/or feeling nauseous, what I feel is maybe more than what the average kid would complain about... and as you will read further down she's been on so many antibiotics that I figured it was from that and/or the miralax.
Besides the tubes from repeat ear infections the majority of her childhood hasn't been filled with more than normal sickness. She had walking pneumonia once a few yrs ago, got over it just fine w/ 5 day zithromax.
The trouble started Sept. 2010. She had repeat sinus infections that Sept, Nov & Dec. The main symptom is cough but also... drainage, stuffiness or swollen nasal passages not in the upper nose but farther back, snoring. So finally got the sinus infections cleared up by Jan 2011 and didn't have any more problems.
Then the sinus infections started again Sept 2011, Nov & Jan 2012 and that January one is the one we are still dealing with as of today. She had Augmentin in Sept, Omnicef in Nov, Omnicef again in Jan, then the Augmentin again, then finally this last one that she's still on is Bactrim.
She has tried 2 months of Zyrtec, 2 weeks of Singulair, several weeks of Nasacort. Various OTC meds. None of those really helped at all except the Nasacort did sorta help with that stuffy nose/snoring thing. With the antibiotics she would sorta start to improve by day 5 and better completely by the end of the course, except that is for this last January infection. She got to a point of being about 75% better then it would just ramp back up a few days after the antibiotic ended. Which is why they tried the Bactrim this last time Pedi said it is good sometimes for resistant strains. But let me back up a bit, on Feb 6th while we were still on the Omnicef, we went back in because the cough was still there and the Pedi heard wheezing. So he started her on Albuteral. That was the only thing so far that made the biggest impact, noticed a big improvement and eventually the cough actually went away. We were only to use the albuteral a week, and by that time she was done with the omnicef too. We had 4 full days of sickness free, no cough no snoring. Then on Thurs Feb 16th she got a fever and what seemed like a simple cold, really stuffy snotty, no wheezing this time & no cough... yet. So Doc thought ok, she's just really unlucky and it's just a virus. The very next day she complained of bad ear pain, went back in... ear infection. Also a small cough had started. That's the day we started the Bactrim. 2 days later on the 20th, fever spiked to 102 (fever had been gone) and the coughing was really bad. So I started the albuteral and nasacort again.
Ended back at the Dr's on Wed the 22nd. He heard more wheezing. So he added Qvar along w/ the albuteral. And he ordered a chest x-ray which turned out to be, exact quote from pedi, “stone cold normal”. So that's where we are today. We are on day 8 of the Bactrim and have had 4 days on the Qvar. The cough is most definitely better in frequency, but when she does cough is sounds terrible, sounds wet and junky. How can it sound so junky but the chest xray was clear?
The coughing at night is better, we've had nights through all this where it was coughing every hour or two. So here lately some nights no coughing at all (at least that I hear) and some nights just a couple/few times.
So the pediatrician said he is leaning towards, again his words, “asthma/allergy phenomenon”. We don't smoke and we have no pets. He also said his next step was to send us to an allergist. After doing my own research online I mentioned to him during one of our many visits CF and he said it could be a possibility but you think the most common first. This last visit we talked about CF again and he said with the chest xray clear he was still leaning towards the asthma/allergy and we'd wait to see if she responds to the Qvar, see an allergist and then if she's no better our next step would be the sweat test. We'd have to go a couple hours away for that.
So if you've made it through this very long post to this point would you care to add your comments and/or advise? I really feel like she meets a lot of the criteria for CF even though she's not had a lot or any really actual lung infections. But I've been lurking on this forum for awhile now and I've seen that sometimes kids just have sinus issues. Plus with her constipation... I'm just wondering if that is the DX we will eventually get.
Thank you so much for your time and any advise.

RebeccaRose · Feb 25, 2012

Hello everyone. First let me beg your forgiveness for this very long post! <img title="Embarassed" src="include/wysiwyg/tinymce/jscripts/tiny_mce/plugins/emotions/img/smiley-embarassed.gif" alt="Embarassed" border="0" />! We are on a journey with our 7 yr old daughter and I am wondering if it might be leading to CF. Here's some history on her:
She's 7 yrs 8 months, 48 lbs, 47”. When she was born she was 7 lbs 18 3/4”. Keep in mind I am only 5'1”, my DH is only 5'3”, my 14 yr old DS is 5'3”, my MIL is 4'11” & my mom was about 5'3”, so we are a bunch of shorties.
She's had problems w/ constipation since 5 days old. Had tubes put in at 18 months. Had a tough time feeding as a baby... crying screaming very gassy would suck bottle a few minutes then refuse to drink any more. Dr just said colic... went through this for months. At 8 months old she had tests done by pedi gastro dr, had 24 hr PH probe, gastric emptying study & endoscopy. All were normal. Once baby food and solid food was introduced she'd get red rough rash around her mouth with just about anything, even stage 1 carrots. She never lost weight as a baby or child but was/still is low on the percentile scale. Got hives at 18 months after eating walnuts, so labeled tree nut allergy, but never confirmed w/ testing.
She has been on ½ dose of Miralax daily for the past 3 yrs for the constipation. There is no going off it or her BM's are huge and she gets so backed up she ends needing an enema. I do have to say she is not a good drinker. It is a daily battle on my part to get fluids of any kind in her. She's not defiant or anything just has to be “encouraged” all day to drink, drink, drink. If I were not the drinking police she would easily go all day all meals barely drinking anything. She has had a lot of complaints of tummy hurting and/or feeling nauseous, what I feel is maybe more than what the average kid would complain about... and as you will read further down she's been on so many antibiotics that I figured it was from that and/or the miralax.
Besides the tubes from repeat ear infections the majority of her childhood hasn't been filled with more than normal sickness. She had walking pneumonia once a few yrs ago, got over it just fine w/ 5 day zithromax.
The trouble started Sept. 2010. She had repeat sinus infections that Sept, Nov & Dec. The main symptom is cough but also... drainage, stuffiness or swollen nasal passages not in the upper nose but farther back, snoring. So finally got the sinus infections cleared up by Jan 2011 and didn't have any more problems.
Then the sinus infections started again Sept 2011, Nov & Jan 2012 and that January one is the one we are still dealing with as of today. She had Augmentin in Sept, Omnicef in Nov, Omnicef again in Jan, then the Augmentin again, then finally this last one that she's still on is Bactrim.
She has tried 2 months of Zyrtec, 2 weeks of Singulair, several weeks of Nasacort. Various OTC meds. None of those really helped at all except the Nasacort did sorta help with that stuffy nose/snoring thing. With the antibiotics she would sorta start to improve by day 5 and better completely by the end of the course, except that is for this last January infection. She got to a point of being about 75% better then it would just ramp back up a few days after the antibiotic ended. Which is why they tried the Bactrim this last time Pedi said it is good sometimes for resistant strains. But let me back up a bit, on Feb 6th while we were still on the Omnicef, we went back in because the cough was still there and the Pedi heard wheezing. So he started her on Albuteral. That was the only thing so far that made the biggest impact, noticed a big improvement and eventually the cough actually went away. We were only to use the albuteral a week, and by that time she was done with the omnicef too. We had 4 full days of sickness free, no cough no snoring. Then on Thurs Feb 16th she got a fever and what seemed like a simple cold, really stuffy snotty, no wheezing this time & no cough... yet. So Doc thought ok, she's just really unlucky and it's just a virus. The very next day she complained of bad ear pain, went back in... ear infection. Also a small cough had started. That's the day we started the Bactrim. 2 days later on the 20th, fever spiked to 102 (fever had been gone) and the coughing was really bad. So I started the albuteral and nasacort again.
Ended back at the Dr's on Wed the 22nd. He heard more wheezing. So he added Qvar along w/ the albuteral. And he ordered a chest x-ray which turned out to be, exact quote from pedi, “stone cold normal”. So that's where we are today. We are on day 8 of the Bactrim and have had 4 days on the Qvar. The cough is most definitely better in frequency, but when she does cough is sounds terrible, sounds wet and junky. How can it sound so junky but the chest xray was clear?
The coughing at night is better, we've had nights through all this where it was coughing every hour or two. So here lately some nights no coughing at all (at least that I hear) and some nights just a couple/few times.
So the pediatrician said he is leaning towards, again his words, “asthma/allergy phenomenon”. We don't smoke and we have no pets. He also said his next step was to send us to an allergist. After doing my own research online I mentioned to him during one of our many visits CF and he said it could be a possibility but you think the most common first. This last visit we talked about CF again and he said with the chest xray clear he was still leaning towards the asthma/allergy and we'd wait to see if she responds to the Qvar, see an allergist and then if she's no better our next step would be the sweat test. We'd have to go a couple hours away for that.
So if you've made it through this very long post to this point would you care to add your comments and/or advise? I really feel like she meets a lot of the criteria for CF even though she's not had a lot or any really actual lung infections. But I've been lurking on this forum for awhile now and I've seen that sometimes kids just have sinus issues. Plus with her constipation... I'm just wondering if that is the DX we will eventually get.
Thank you so much for your time and any advise.

RachelLynne · Feb 25, 2012

Hello,

I'm sure this is tough for you, as it would be for anyone going through this. I don't have much advice except for get the tests done just to rule it out. I was misdiagnosed all of my life from asthma,to brochiectasis and so on. It's better to get the test done if you have any kind of uncertainties so that she doesn't go on with this disease untreated if she has it.
I'd also like to advice you on the usage of miralax. I started on it about 8 years ago for the same issues your daughter is having. I wasn't using the bathroom for weeks at a time if I was taken off the miralax. However, we've been increasing the dose,increasing the dose, and eventually you grow to be taking so much of it, it is barely tolerable. Now currently, I am receiving tests to check if my colon has actually stopped functioning because the miralax somewhat replaces the colon function. My advice: Don't keep your child on miralax. My doctor said my colon issues could have been prevented by being diagnosed at an early age and directly put on enzymes.

Best of luck!

RachelLynne · Feb 25, 2012

Hello,

I'm sure this is tough for you, as it would be for anyone going through this. I don't have much advice except for get the tests done just to rule it out. I was misdiagnosed all of my life from asthma,to brochiectasis and so on. It's better to get the test done if you have any kind of uncertainties so that she doesn't go on with this disease untreated if she has it.
I'd also like to advice you on the usage of miralax. I started on it about 8 years ago for the same issues your daughter is having. I wasn't using the bathroom for weeks at a time if I was taken off the miralax. However, we've been increasing the dose,increasing the dose, and eventually you grow to be taking so much of it, it is barely tolerable. Now currently, I am receiving tests to check if my colon has actually stopped functioning because the miralax somewhat replaces the colon function. My advice: Don't keep your child on miralax. My doctor said my colon issues could have been prevented by being diagnosed at an early age and directly put on enzymes.

Best of luck!

LouLou · Feb 25, 2012

You won't know for sure until you test. Considering she is this healthy she likely has some functionaility in her CFTR if she does even in fact have cf. I bring this up because in a case like her's, it's not conclusive to do just a sweat test but should also seek a genetic sequencing test. The likelihood if she does have cf of her having a rarer mutation is more likely in my mind than of a common one so demand sequencing not a panel test. This will ensure she gets tested for over 1000 mutations...not just a hundred or so. Personally, I'd kick myself if I put it off and then years down the road did find out she had it. Its better to just know so you can get better care for her. Just think each time she goes on antibiotics, she'll be started on one that is going to work. Pretty cool eh? It's because they will do a cultuure on her everytime they see her so when she gets virally sick, they'll be prepared to know what will flare bacteria wise. Good luck! I promise it will be worth the drive and you'll learn a lot either way!

LouLou · Feb 25, 2012

You won't know for sure until you test. Considering she is this healthy she likely has some functionaility in her CFTR if she does even in fact have cf. I bring this up because in a case like her's, it's not conclusive to do just a sweat test but should also seek a genetic sequencing test. The likelihood if she does have cf of her having a rarer mutation is more likely in my mind than of a common one so demand sequencing not a panel test. This will ensure she gets tested for over 1000 mutations...not just a hundred or so. Personally, I'd kick myself if I put it off and then years down the road did find out she had it. Its better to just know so you can get better care for her. Just think each time she goes on antibiotics, she'll be started on one that is going to work. Pretty cool eh? It's because they will do a cultuure on her everytime they see her so when she gets virally sick, they'll be prepared to know what will flare bacteria wise. Good luck! I promise it will be worth the drive and you'll learn a lot either way!

RebeccaRose · Feb 27, 2012

RachelLynne, thank you for your post and advice. Even though our pedi has reassured me time and time again about the miralax, I really hate for her to have to rely on something to use the bathroom. So Enzymes would fix a constipation problem in a child with CF? I guess that would eliminate the need for miralax then, so I see what you are saying... get the test, know for sure, if it's cf then get started on treatment. If it's not cf then I don't know what else to do besides the miralax... this isn't a new battle for us, we've tried everything and that was/is the only thing that helps her.

LouLou, thank you too for your post and advice. How hard is it to get insurance to pay for the full blown sequencing? Will they not insist that we try tests for asthma, allergies, even reflux before they'll pay for the genetic testing? It drives me crazy how slow the process is to figuring out when something is wrong with your child... you spend weeks trying this med then that med then waiting weeks to get in to see one specialist then weeks to see another.

She is about the same I guess. She is definitely coughing less often. But still when she does cough it sounds like there's mucus in there that she needs to hack up. The chest xray was clear so I wonder where this mucus is... is it in her throat??? It sounds like it's in the chest, but maybe I'm wrong. Can you have mucus in the lungs and it not show on an xray? She may have coughed less today than yesterday... but to be honest I get so hyper aware to every little peep she makes here lately I don't know if I can trust that assessment. Maybe I'm over analyzing, as I tend to do. I do know I heard her wheeze several times today.

RebeccaRose · Feb 27, 2012

RachelLynne, thank you for your post and advice. Even though our pedi has reassured me time and time again about the miralax, I really hate for her to have to rely on something to use the bathroom. So Enzymes would fix a constipation problem in a child with CF? I guess that would eliminate the need for miralax then, so I see what you are saying... get the test, know for sure, if it's cf then get started on treatment. If it's not cf then I don't know what else to do besides the miralax... this isn't a new battle for us, we've tried everything and that was/is the only thing that helps her.

LouLou, thank you too for your post and advice. How hard is it to get insurance to pay for the full blown sequencing? Will they not insist that we try tests for asthma, allergies, even reflux before they'll pay for the genetic testing? It drives me crazy how slow the process is to figuring out when something is wrong with your child... you spend weeks trying this med then that med then waiting weeks to get in to see one specialist then weeks to see another.

She is about the same I guess. She is definitely coughing less often. But still when she does cough it sounds like there's mucus in there that she needs to hack up. The chest xray was clear so I wonder where this mucus is... is it in her throat??? It sounds like it's in the chest, but maybe I'm wrong. Can you have mucus in the lungs and it not show on an xray? She may have coughed less today than yesterday... but to be honest I get so hyper aware to every little peep she makes here lately I don't know if I can trust that assessment. Maybe I'm over analyzing, as I tend to do. I do know I heard her wheeze several times today.

sanfloraine · Feb 27, 2012

Rebecca, we are also wondering if our son could have CF. He is pancreatic deficient and is on enzymes now (21 months old). His sweat test was negative and he had a first 32 mutations genetic testing that was negative.

Does not sound like CF... BUT we need to know for sure so we asked that the doctors approve the full genetic testing and they did. Our insurance will cover 70 to 90% of the cost so we will still have to pay for part of it, but we really need to know. Your insurance will probably cover a portion of the cost as well, as long as your doctor submits the request for the test - call them with the insurance code for the test and speak with them. The blood lab was helpful in giving us the test code.

You need to know what's wrong with your daughter: push your doctors to order both the sweat test AND the full genetic sequencing! If they don't want to do it, go see an other doctor.

sanfloraine · Feb 27, 2012

Rebecca, we are also wondering if our son could have CF. He is pancreatic deficient and is on enzymes now (21 months old). His sweat test was negative and he had a first 32 mutations genetic testing that was negative.

Does not sound like CF... BUT we need to know for sure so we asked that the doctors approve the full genetic testing and they did. Our insurance will cover 70 to 90% of the cost so we will still have to pay for part of it, but we really need to know. Your insurance will probably cover a portion of the cost as well, as long as your doctor submits the request for the test - call them with the insurance code for the test and speak with them. The blood lab was helpful in giving us the test code.

You need to know what's wrong with your daughter: push your doctors to order both the sweat test AND the full genetic sequencing! If they don't want to do it, go see an other doctor.

Printer · Feb 27, 2012

I'm not going to hold your hand.

Contact your nearest APPROVED CF CLINIC today, tell them what you have told us. If she has CF, delaying the dx will allow more time for her to develope lung damage.

Printer · Feb 27, 2012

I'm not going to hold your hand.

Contact your nearest APPROVED CF CLINIC today, tell them what you have told us. If she has CF, delaying the dx will allow more time for her to develope lung damage.

carlacox · Feb 27, 2012

I am pretty sure if the doctor requests the test than the insurance will approve it. It is just blood work and they run the CF sequencing for the various mutations.

carlacox · Feb 27, 2012

I am pretty sure if the doctor requests the test than the insurance will approve it. It is just blood work and they run the CF sequencing for the various mutations.

pencf · Feb 27, 2012

I can appreciate getting all the back story out so everyone knows where you are coming from.
Its so hard to tell about these things, but you are right, there are things about your daughter's condition that could be a rare CF gene mutation.
I guess what I would do in your situation is ask for a Sweat Test and nasal differential test. The nasal differential test is somewhat new to the CF diagnostic tools but it is believed to be the most accurate in diagnosing CF since we still don't tests that will isolate ALL the CF mutations.
Good Luck, and keep us posted!

pencf · Feb 27, 2012

I can appreciate getting all the back story out so everyone knows where you are coming from.
Its so hard to tell about these things, but you are right, there are things about your daughter's condition that could be a rare CF gene mutation.
I guess what I would do in your situation is ask for a Sweat Test and nasal differential test. The nasal differential test is somewhat new to the CF diagnostic tools but it is believed to be the most accurate in diagnosing CF since we still don't tests that will isolate ALL the CF mutations.
Good Luck, and keep us posted!

dbsholes · Feb 27, 2012

"I'm not going to hold your hand.

Contact your nearest APPROVED CF CLINIC today, tell them what you have told us. If she has CF, delaying the dx will allow more time for her to develope lung damage. "

Ditto.

David Sholes
Bennington Vermont

dbsholes · Feb 27, 2012

"I'm not going to hold your hand.

Contact your nearest APPROVED CF CLINIC today, tell them what you have told us. If she has CF, delaying the dx will allow more time for her to develope lung damage. "

Ditto.

David Sholes
Bennington Vermont

Beccamom · Feb 27, 2012

Rebecca I wish I could hold your hand. As a mom of a chronically ill child I understand the stress, sadness, and confusion you may be living with for many years. It has been over a year since I really sought all avenues for a diagnosis and my 12 year old daughter remains in CF diagnostic limbo. The good news is she is now treated for CF and her lung function improved from FEV1 55% Jan 2011 to FEV1 110% Jan 2012. This took antibiotics based on the specific bacteria found in her cultures, IV antibiotics, a mucus clearance vest etc. My daughter continues to be failure to thrive, but she is now on the growth chart for the first time in her life. Go with your mom gut and seek testing and second opinions until you feel content. It has been a year and I am now content with my daughter's health, treatment plan, and medical team. If you just need to vent feel free to send a PM.

Best wishes,
Jen

Beccamom · Feb 27, 2012

Rebecca I wish I could hold your hand. As a mom of a chronically ill child I understand the stress, sadness, and confusion you may be living with for many years. It has been over a year since I really sought all avenues for a diagnosis and my 12 year old daughter remains in CF diagnostic limbo. The good news is she is now treated for CF and her lung function improved from FEV1 55% Jan 2011 to FEV1 110% Jan 2012. This took antibiotics based on the specific bacteria found in her cultures, IV antibiotics, a mucus clearance vest etc. My daughter continues to be failure to thrive, but she is now on the growth chart for the first time in her life. Go with your mom gut and seek testing and second opinions until you feel content. It has been a year and I am now content with my daughter's health, treatment plan, and medical team. If you just need to vent feel free to send a PM.

Best wishes,
Jen

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