Not Classic CF

Lindsay - posted on 04/28/2013

Hi my name is Lindsay and my son is 2 years old has a sweat test coming up in a week he has been going back and fourth from 24 to 23 pounds for a year he wears 12 month old clothes and they fall off of him he has been the same height for a year now he is always thirsty and eats all the time but the last 4 days he hasn't had an appetite he had a few lung problems when he was first born he has a slight cough daily his stomach swells and not to sounds nasty or anything but you can tell what he eats when he uses the bathroom he is potty traind . Has anyone else with cf had these experiences and I'm really scared this is my only boy he is my middle child I have a daughter that is 2 years older then him and a daughter that is a year younger then him. Please someone help me the doctors seem like they won't give me any answers they took a stool sample and then called me and said they had to do a sweat test does anyone know what they find in the stool sample for them to do a sweat test? I need help and I'm scared I'm a young mother and don't know what I'm dealing with thank you

Nicole - posted on 11/01/2012

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Nicole - posted on 11/01/2012

My son is eight and has been having health issues for the last three years..his symptoms don't really seen to hit in with CF, but recently our doctor has said he should be tested.for awhile they told us hr had epilepsy.now they are not thinking that is the problem as new symptoms have come about... Now he can't handle heat in general, or by activity. He sweats excessively, drinks tons, snycope when exposed to heat at all.. Can anyone tell me what some atypical symptoms are for mild CF

Karen - posted on 10/10/2012

Hi Amber My daughter has those genes. We do daily physio and everything else. She has had a few hospital admissions over the last 5 years. But is pancreatic sufficiant. Nice to see someone else with the same genes as it is a rare type.

Karen - posted on 10/10/2012

Hi Amber My daughter has those genes. We do daily physio and everything else. She has had a few hospital admissions over the last 5 years. But is pancreatic sufficiant. Nice to see someone else with the same genes as it is a rare type.

Amber - posted on 05/09/2012

My son was diagnosed with a newborn screening and two genes delta f508 and r347h. They started him on a nebuliser with once daily pulmozyme just to keep him healthy. Haven't been able to find anyone with those genes just wondering what to expect.

Maryann - posted on 04/25/2012

Hi , my name is also Maryann. I have mild CF with my pancreas, adrenals, heat intolerance, liver function and sinuses being affected. I found out at 23 when I had my second child who was born with Blood sugar issues. The pediatrician ordered a CF test on me, which to my surprise was positive. However, looking back on my childhood I see red flags. I am now 36 have trouble with pancreatitis, liver function and heat tolerance mostly. I think when you are dealing with respiratory issues it is alot more serious, not to say that I don't have hurdles do to it. My daughter is now 13, has not had mnay issues for a few years now, but from age 3 to 9 had many bouts with pancreatitis due to the CF. I have noticed that cigarette smoke has an immediate negative affect when I am around it, as well as for my daughter. As I age my intolerance to cig smoke has become quite severe. Sending you love and light, and strength to push through any CF issues that come your way. Having a positive outlook can really help get through the tough times, my Doc tells me he is amazed at my resilience, and I believe it is due to my outlook. ~Blessings ~

Laurie - posted on 11/19/2009

Hi Laura-
I hope your twins are doing well. It is very scary to be told your child is being diagnosed with a serious disease and to hear every body else's stories. It's great that you know though so when they have any symptoms your doctors will be right on them and nip them in the bud before they become big problems.

We just got back from our CF appt. and our doctor just got back from a big CF conference and few weeks ago and there are some extremely exciting new treatments that will be available in a few years with amazing results. Also scientists have just learned how to differentiate stem cells and have begun studies on growing lung cells, which could completely replace lung transplantation in CF patients (this is very new and will likely not be a reality for 20 or so years, but probably in our kids life times). So, I guess my point is doctors and scientists around the world are making ways to make our kids have healthier, longer lives.

The day to day treatments, and fear of getting colds and flu's, and old or inaccurate info on the internet scare and stress out us CF moms.

Try to stay positive. People around the world are working very hard to cure this disease and in the mean while there are a lot of good treatments available. CF is probably not what a lot of us expected but when you see those babies smile, talk for the first time, and take their first steps, and so on all the extra work we do to keep our kids healthy is so worth it.

I'm not trying to minimize the seriousness of this disease but I think we have two choices. Either to drown in fear and negativity or to go forth accepting it and make the best of it. Find a great CF center and a doctor you like. Get to know the people there. And most importantly enjoy those sweet babies you have.

Laura - posted on 11/19/2009

I'm glad to hear your stories. We have twins diagnosed from the new born screening. Passed the sweat test but confirmed two cf genes, f508 and d115. They are being monitored by an awesome dr. at childrens hospital boston. So far they do not need meds. It is hard already to determine cf vs preemie issues. We are now super scared hearing what has happened to most of you, but it will keep our eyes open and we can continue to research and learn.

Thank you

Patti - posted on 09/27/2009

Quoting Andrea:

by no means am i trying to sound harsh... but before i found an accredited cf center, i saw a regular peditrician that basically wanted to see my children get sicker before he would treat them because they were "mild". pancreatic sufficient yes, mild no.

I agree with you completely!!! Being that I wasn't that sick when I was young (couple of hospitalizations for GI issues) and then being referred for a double lung and liver transplant at the age of 23 (received it when I was 25), I hate it when people say that their child has "mild" CF. Yes, it is not that bad when they are young, but that's because it's a PROGRESSIVE disease. My Mom started taking me to a CF specialist right when I was diagnosed at 6 months old. I was once the healthiest patient in the clinic...and then the next year needed transplant. There is absolutely nothing mild about that!

Patti - posted on 09/27/2009

Hi...I just wanted to know who said that your daughters case is mild? Being four years old and being in the hospital with a PICC line and antibiotics is not mild. I was never in for antibiotics like that until I hit high school and I am by no means classified as mild. I had a double lung and liver transplant at the age of 25.

Andrea - posted on 08/07/2009

please don't be misled by the "mild" label. all that refers to is pancreatic involvement. cf with any gene variant is progressive. i have 3 children that are all pancreatic sufficient. i can tell you that even amount siblings with the same mutuations, same environment and consistency of care... they all present differently. my baby was hosptialized with iv's 4 times last year for 2 weeks at a time....1 time for 5 days... there is nothing "mild" about this. just know that just because your child doesn't suffer from malabsorbtion now, *that can actually change... and your child has the potential to develop respirtory issues just a "classic cf case". I think it is such a dis-service to label patients one way or another. only time will tell what happens to our children, but please don't be blinded by labels. educate yourself about this disease so that you can advocate for your child.



by no means am i trying to sound harsh... but before i found an accredited cf center, i saw a regular peditrician that basically wanted to see my children get sicker before he would treat them because they were "mild". pancreatic sufficient yes, mild no.

Desiree - posted on 06/29/2009

Hi everyone! though my daughter is only 4 1/2 months old (diagnosed at 2 weeks with 2 of the Delta 508 genes) this is the advice i have to all parents who have kids they think may be CF. Dont listen to your pediatrician. they have almost never seen a kid with CF and havent dealt with much of it since med school. Mine admitted this to me before telling me if anything was ever out of the ordinary to call the childrens hospital first, and then go from there. i say find a CF center near you (mines in Philadelphia) and get to know them really well. they listen to us and what we have to say. our pediatrician ust gives her the shots she needs and thats about it...

Sandra - posted on 06/16/2009

Hi, My name is Sandi and just recently found out my 11 year old daughter (Sierra) has common CF. She has both the lung problems and digestive problems. She bearly weighs 50 pounds and is very short. We were told when she was a baby that her right lung didn't develop properly and it was just because she was premature. Also we were told she has asthma. She is on Advair and proventil as preventive meds, she also takes vitamins daily. It's very hard watching her and not knowing day to day what will happen or not happen. I don't know anyone with a CF child or anyone that has dealt with it so this is hard and scary for all of us.

Susan - posted on 06/10/2009

My son is 17 years old and was diagnosed with cyctic fibrosis when he was 1 month old only because he was 2 months premature and had digestion problems after they stopped feeding him intraveniously and began tube feedings. He has suffered with nasal polyps since he was very little (about 2 years old) and has had 2 surgerys to remove them. he is about to undergo his 3rd surgery and they will fix what they call a deviated septum(crooked nose) to hopefully help the whole sinus situation. He has never had a lot of lung activity. He blows 100% every Dr. visit, although his throat culture tested positive once for psduemonas when he was about thirteen and he did a round of TOBI for precautionary measures. He does have to take enzymes before his meals but we are very blessed so far to have had very "mild" symptoms aside from the sinus stuff.

Laurie - posted on 05/19/2009

Hi Maryanne-
I have a 7 month old with "atypical cystic fibrosis" that was dx'd because of the new born screening. She has Df508 and R810G (which they have pretty much no idea what it is- they have found only 2 people in the entire world with this and they supposedly have mild symptoms, what ever that means). She have been totally healthy except for one bout of pneumonia (which the entire family had). We are stuck going to the specialist every 6 weeks. They have stuck her on proair, hypersal, and pulmozyme. She has no digestive problems and no breathing problems. I finally got the specialists to admit that they don't know what to do with a lot of Cfers who are being identified through newborn screening that are atypical. We have had 2 negative sweat tests, but 2 genes identified with DNA screening. Our other child got lucky and isn't even a carrier. We are planning to do a pulmonary function test and take her off her meds and then repeat a month or two later to make sure her function doesn't change. I can only imagine what a frustrating this must be for you. I am a pediatric nurse and this whole experience has been so nerve wracking. No one has any answers, no one can tell us if our child will ever be sick (at least we are not sick), but it's so hard not knowing what to expect. I wish I had any words of wisdom for you. Hang in there, and keep us posted if you learn anything new.

Julie - posted on 04/21/2009

Hello! This is my first posting!

I am in Michigan and my daughter Jenna is 4 years old. She has a "mild" case too. She does not take enzymes but at the end of last year, she was fitted with a vest and started on pulmozyme.

In December we spent two weeks in the hospital with her so she could have a PICC line and get antibiotics.

I cannot recall the gene pairing my daughter has, but it is not very common at all.

Katie - posted on 04/04/2009

Quoting Danielle:

Hi Maryanne, my name is Danielle and I have a 5 1/2 year old, named Baylor, with Cystic Fibrosis.  For lack of better terms, he has a mild case of CF.  He has a gene called Delta F 508 and R117h-T.  Two copies of Delta F would typically manifest with more symptoms or more severe symptoms.  Sorry to get technical with you, but I too have struggled to find simialar CF patients.  Baylor does not have the digestive involvement that can be so serious.  He has had  very few CF symptoms.  That is, we are not sure if they are normal childhood illnesses or are CF related.  It can be tricky and frustrating to be in our shoes.  You mention CF and they automatically think the worst.  In reality, we would not know he had CF without the pre-natal screening.  All that being said, the pulmonologists at Seattle's Children's Hospital say that they would fully expect that one day, he would have lung disease and possibly need a lung transplant.  Of course, I sit here in denial because I see a relatively healthy child. 

I understand your frustration and would be happy to chat with you as symptoms occur.  I wish you and your children the best.  Warmest regards!

Danielle,

You mentioned your child has the Delta F508 and the R117h  with the "T" variant. Which "T" variant is it exactly? Would it be the 7T or another one? My son is 9 1/2 weeks old, Rhett, and he was screened at birth and found to have the Delta F508 and the R117h 7T. Rhett's doctor says he will have no issues through life except for infertility. I have been reading and seen SEVERAL case studies where children with the same gene mutations normally have later onset of CF symptoms. And then your doctor said he will have lung issues. I have read ALL CF patients will have lung issues, wonder why mine is down playing the issue? Rhett is my husband and my first child so I am a worrier anyways but I do wonder if issues he has had are due to the CF or if they are just "normal baby issues".  I am just glad to see someone who has a child with possibly the same gene mutations.

Maryanne - posted on 03/13/2009

Hi Cherry, It is so helpful to hear from others with similar circumstances. Have your drs ever mentioned a polymorphism. What exactly does a "wild" gene mean. At this point malabsorption isn't an issue for my son or my daughter. My son has had respiratory issues, albuteral and flovent inhalers have worked up til now. The doc is saying it may be time to start a nebulizer therapy. He mentioned pulmozyne and another possibly hypertonic. My Mary Kate will be 6 this year and Michael will be 3 next week. We really don't know what to expect. We just do our best to be dilligent at keeping them healthy. I swear by the cod liver oil! Does Taylor ever get dehydrated? This seems to be an issue with my kids. Thanks for your post I am really finding this helpful to know there are other cases like my children. I am very grateful for all this sharing of information! I hope we can keep in touch!

Cherry - posted on 03/13/2009

Evidently you kids CF is more "mild" than mine as at 5 1/2 he started loosing weight and coughing constantly.  But the drs. have labeled him "mild" CF if guess because he doesn't have  malapsorption.

Cherry - posted on 03/11/2009

I so identify with an active and seemingly healthy child.  But we go to the hospital for PFT's and a sputum culture every three months.  10 year old Taylor has the Delta 508 and a "Wild" gene...I told my husband he got the "Wild" gene from him!!  But like your child, our son is in the 95% in his height and weight.  He's an all star swimmer, plays on a city baseball team and on a select team and plays basketball (different times of the year).  Our peditrician wants us to keep him in bed, etc. when he has psudemonas and he just keeps going.  Then antibiotics mess with his tummy a little, but I give him probiotics, etc. to help that (or eat a piece of chocolate seems to help).  Do any of your children with "mild" CF us the vest, nebulize hypertonic saline or pulmozyme?  Orally Taylor takes Centrum Complete vitamins and extra Vit D.

Cherry - posted on 03/11/2009

My son, Taylor, was not diagnosed until he was 5 1/2 as he also has a "mild" form of CF.  In the state of Texas they do not test for CF with the PKU test....so we considered him our "sick kid".  He does not have malapsorption, his nasal area is fine (but he had his tonsils and adnois out at 3 1/2.  He does get reoccuring psduemonas, but with Tobi and Cipro he gets rid of it.  He has not gone an entire year without getting it.  We have him (10 years old now) in private school.  They are very accommodating with his dr visits.  Tell me about your children.  Do they do treatments of any kind or take medications?

Maryanne - posted on 03/01/2009

Patti, Your message was very helpful. I do feel very fortunate we landed in the hands of the doctor we did at Childrens Hospital in Boston. I'm not sure another dr would have paid as much attention to this. It could have been dismissed easily. From day one he has told us they would eventually be symptomatic. We also have a wonderful pediatrician. Like most drs she didn't know anything other than classic cf was possible. She is very attentive to the kids and to what my concerns are for them. I have encountered doctors in the ER who don't think precautions are necessary because they don't know enough about this Atypical form (thank you for letting me know it's not so atypical) I have found it so important to educate myself about the possibilities so I can make good decisions for my children. I have had people challenge me and infer my children don't have cf because they aren't sick. It's very difficult at times. I am glad to hear you are doing so well after your transplants.

Take care and Thank you, Maryanne

Patti - posted on 02/28/2009

Hi Maryanne and welcome. I hate to say this, but I hate it when doctors say that a child's CF is only a "mild" form. I believe that there is no mild form because no matter what, anyone who has CF can die from it. If anyone wants to classify it at mild, then I would have been considered that when I was a child as I didn't have any symptoms except for GI up until I was in high school. When I got into high school, that's when I started having the lung problems and I would not have considered it mild at all!! My CF was more prevalent during college and then I ended up having to go for double lung and liver transplant evaluations when I was 23. I had the transplants in 2007 and have been doing fine since.

The symptoms that you are explaining are definitely typical to CF. I would say just keep and eye on what is going on with them (which I am sure you do) and anything that is off, report it to the doctor so they can better understand what is going on with your children. Good luck!

Sheila - posted on 02/27/2009

Hello all, I am new to the group and I was just reading the recent posts about the different gene mutations.  I normally don't get involved with groups relating to cystic fibrosis because my daughter has always been so different from the other CF kids.  She actually has the common mutation from myself and my husband (Delta F 508) but yet she was not diagnosed until age 4 and she has 100 % lung function.  She has never really been very sick and she mostly struggles with digestion but even before she was diagnosed as a baby she was always 100 percentile in weight and 95 in height which I think is amazing!  She is 12 now and is about 5' 3 1/2" and 114 lbs.  She is so tall for her age and just perfect in weight.  We often forget she has CF.  Makenzie has also cultured staph but is not symptomatic.  I do get the impression from our doctor that I should expect her health to decline at some point in time but it is hard to fathom since she is soooo healthy!  We don't even know any family members who have had CF so we do not even know what to expect as far as her health.

Maryanne - posted on 02/27/2009

Danielle, I was very pleased to hear from you. It's the first time I have heard of a case even remotely similar to what my children have. My husband is from Scotland and his 24 year old nephew has classic CF, Delta F508. My kids have one mutation, inherited from me, G551D (I have read mostly effects digestion more so than lung function). My daughter has one polymorphism(mutation of a mutation) and my son has two. He seems to be more affected than she is. We just received our clinic results. Michaels chest xray is showing some inflammation similar to eighteen months ago. They will retest in 3 months and possibly begin some regular nebulizer therapy. The doctors have said from the beginning they don't know why their systems were funtioning properly and that things could change anytime. They are now refering to them as Atypical. My daughters throat culture showed Staph, she isn't symptomatic so they aren't treating her at the moment. They have had a really healthy run. I attribute it to their nutrition. They both enjoy fruits and vegetables. They take a Flintstone Multi everyday as well as childrens cod liver oil. I really believe things like blueberries (which they eat a lot of) help them fight off these little bugs that open the door for potentially more serious conditions. Please feel free to share any ideas or info you have found to be helpful. Lets keep in touch, Maryanne

Alexandria - posted on 02/25/2009

I have a newborn now 4ms old, I live in California, and they just started 1 1/2 yr ago newborn screening, they told us ours had  two mutations, the common one and than a rare one called L9971, something like that.  They have done a sweat test and poop test and so far the tests have come back as him being a carrier?  But he is now having breathing problems and have had to get a nebulizer for him, and he has been to the Dr a million times. I am just a freak about his breathing it is hard.  The nebulizer works good, but the albuterol that we have to put into it kind of weirds him out a bit, I guess he gets a bit shakey but only for a few minutes.  We have another sweat test at 6 mos and if that is negative they say for sure that he will be considered a carrier, still I am not satisied.

Danielle - posted on 02/24/2009

Hi Maryanne, my name is Danielle and I have a 5 1/2 year old, named Baylor, with Cystic Fibrosis.  For lack of better terms, he has a mild case of CF.  He has a gene called Delta F 508 and R117h-T.  Two copies of Delta F would typically manifest with more symptoms or more severe symptoms.  Sorry to get technical with you, but I too have struggled to find simialar CF patients.  Baylor does not have the digestive involvement that can be so serious.  He has had  very few CF symptoms.  That is, we are not sure if they are normal childhood illnesses or are CF related.  It can be tricky and frustrating to be in our shoes.  You mention CF and they automatically think the worst.  In reality, we would not know he had CF without the pre-natal screening.  All that being said, the pulmonologists at Seattle's Children's Hospital say that they would fully expect that one day, he would have lung disease and possibly need a lung transplant.  Of course, I sit here in denial because I see a relatively healthy child. 

I understand your frustration and would be happy to chat with you as symptoms occur.  I wish you and your children the best.  Warmest regards!

Maryanne - posted on 02/21/2009

Hi Sandy, My kids are not on any meds or enzymes. Basically they inherited the G551D mutation from me and a polymorphism of a mutation from my husband. (this has been explained to me as a mutation of a mutation) Neither one of them can tolerate milk products. My son is the youngest and has had quite a few upper respiratory infections. My daughter is now experiencing some respiratory stuff possibly triggered by allergies to dogs. They both dehydrate very easily when physicaly active as well as in the warmer weather. Their sweat tests have always been borderline. Apparently before newborn screening people like this wouldn't be diagnosed until they were adults. They are monitored at the CF Clinic every 18 months at the moment. We just had an appointment last week so we are awaiting test results now to see if there have been any changes.



Thanks for asking,

Maryanne

Sandy - posted on 02/21/2009

Maryanne, Can U be more specific about ur childrens CF condition? Like what R there issues. Collins main issue is his sinuses. Is ur children pacreatic insufficicant?



Ur Administrator,

Sandy