Cystic Fibrosis

[Fiddle-Faddle]

I just sneaked a look at the lecture my husband is preparing for tomorrow's biochem lecture--the topic is cystic fibrosis.

The main symptom is thick, sticky mucus clogging the lungs, and it is caused by an abnormal gene.

What caught my eye was something else on the symptom list:

1)ongoing diarrhea or bulky, foul-smelling or greasy stools,

2) huge appetite but poor weight gain and growth as a result of chronic malnutrition, and

3)stomach pains and discomfort caused by too much gas in the intestines.

Sound familiar?

I'm probably at the point where I think the whole world has celiac, and I know that they've isolated the CF gene, but --what if these people also have celiac? Or what if people with celiac are the genetic carriers of CF--being symptom-free for CF, nobody would ever think to test us for that gene.

Radman, where are you? I'd really like to hear your opinion on this?

[trents]

I'm certainly no geneticist or biochemist but I think with CF the mucous problem is not just limited to the digetstive track but is found systemically, i.e., in the respiratory track as well so it would seem to be a coincidence.

[Fiddle-Faddle]

I don't think the mucus is in the digestive tract, just the respiratory tract (but I could be wrong).

[nikki-uk]

Cystic Fibrosis involves excess mucus in the respiratory tract and the digestive tract.

It is a genetic fault (and I think docs now know which one is responsible)

Strangely enough my son was tested for CF as a baby(through a test called a 'sweat test')due to constant chest infections and the foul stools.

Luckily he tested negative to CF.

Fast forward 12yrs and the same son is now being tested for celiac disease (the 'foul stools' never went away)

His Dad was dx 18months ago and it switched on a lightbulb in my head!

I don't think that the CF gene is related to the celiac disease genes as it's a recessive gene.

I think (correct me if I'm wrong anyone)that both parents have to be carriers of the CF gene for your child to have a 1 in 4 chance of having CF.

[num1habsfan]

I think (correct me if I'm wrong anyone)that both parents have to be carriers of the CF gene for your child to have a 1 in 4 chance of having CF.

My sister has CF, and it is only my dad who has the carrier gene, and I guess I do too, so when/if I have kids, they both have the chance of having CF and Celiac.. but it'd be interesting to know if they were connected, because my sis always complains about having stomach pains after eating...

~lisa~

[nikki-uk]

Ok!-thanks for correcting me

[jenvan]

I haven't heard anything of them being connected genetically... So that leads me to think they are both determined with genetic markers independent from each other...and if someone has both it is a coincidence per se. Like, if you have blue eyes and brown hair--they are each determined independently. Developing another autoimmune disease or secondary illness is often linked to Celiac b/c of its impact on the body and long-term effects. Also a coincidence, that some of the 'symptoms' overlap. Perhaps I have missed it, but I have not read anything that might lead me to believe there is genetic overlap between the two. Maybe Tiffany has a good answer..she is a scientist

[TCA]

We went through CF testing for my son. I think they do it pretty standardly for failure to thrive kids. The sweat test was negative. We had a scare with our daughter a couple weeks ago. They found a pneumatocele in her lung and we were researching like crazy to see if it could be CF. It doesn't look like a possibility, thank goodness. From what we read, both parents have to be carriers of the gene. The mucous is very thick in both the respiratory and digestive systems. Meg has horrible mucous problems in the GI track, so we were very concerned. We get to see first had how bad it is with different foods since she has a G-tube.

[Ashley]

I'm not really sure if it could be linked or not, I really don't know much about it. But, I was tested for Cystic Fibrosis last month, and it came back negatively.

[Fiddle-Faddle]

My sister has CF, and it is only my dad who has the carrier gene, and I guess I do too, so when/if I have kids, they both have the chance of having CF and Celiac.. but it'd be interesting to know if they were connected, because my sis always complains about having stomach pains after eating...

~lisa~

My 7-year-old used to complain about stomach pains after eating--until I put the whole family on "gluten-lite" (gluten at only one meal a day) so that I woudn't ahve to prepare 2 breakfasts and 1 lunches. Also, his eczema went away.

[skoki-mom]

My 7-year-old used to complain about stomach pains after eating--until I put the whole family on "gluten-lite" (gluten at only one meal a day) so that I woudn't ahve to prepare 2 breakfasts and 1 lunches. Also, his eczema went away.

Gluten-lite, I like that! That is probably the best way to describe my kids diet around here. I fix whatever they want for breakfast or lunch (except pancakes are always gluten-free now, they like them better anyhow), but dinner is ALWAYS gluten free cuz I am not slaving over dinner I can't eat. Besides, I know for a fact the only thing their dad knows how to cook is pasta, so they eat tons of it at his house. The only thing I make separate at dinner is pasta cuz mine is just too expensive. However, my 5 year old is always pilfering mine and saying she likes it better.

In response to the original CF question, CF is most definitely automsomal recessive. Both parents must carry the recessive gene, giving each child a 25% chance of having the illness, a 50% chance of being a carrier of the gene but not ill with the disease, and a 25% chance of not inheriting the gene at all. As others have posted, digestive troubles are a big part of the disease and people with CF have to take a lot of digestive enzymes to digest their food. I would not think celiac disease would be related, although combinations of illnesses are certainly possible in any individual. I can tell you that CF can present at birth, as we sometimes test premature babies in the NICU for CF if they present with excessive respiratory secretions or feeding intolerance or other bowel issues.

[Felidae]

This is interesting because when I was little (three or four) I was tested for cf. It came back negative, but I wonder if they had tested me for celiac what the result would have been. Back then they didn't know as much about either disease as they do now.

[azmom3]

I know this is an old topic, but I am just now familiarizing myself with celiac since my 22 month old was diagnosed a couple weeks ago. I had never heard of this before and nobody in my family had celiac that we were aware of. I did have 2 brothers and 1 sister who passed away from cystic fibrosis. I was reading a book about Celiac (sorry, I don't remember which one) and one thing that struck me in there was that CF and celiac disease co-exist. I believe it said that if you have CF, you're chances of having celiac disease were greatly increased. When I mentioned to my mom about my son having celiac, she remembered having researched that years ago when they were trying to find out what was going on with my brothers and sister. They were never tested for it though. I wonder, now that I have a child with celiac disease, what the likelyhood was that any of them also had celiac disease. We'll never know,but that's the closest thing we have in our family to resembling the celiac symptoms and since celiac runs in families, I wonder if it's connected.

[2kids4me]

Many diseases can occur more commonly together - diabetics have increased chance of being hypothyroid, celiac and hypothyroidism can occur in the same individual, there are known genetic links for all autoimmune disease and if one family member has one - then relatives are ina higer risk group. It isnt just celiac disease that has this "link", also different conditions can have the same symptoms but not be related - diabetes mellitus and diabetes insipidus have similar sames and symtoms except they are two unrelated conditions. MS can present like severe B 12 deficiency yet are not related.

See the following sites for autoimmune disease with common links:

Open Original Shared Link

Open Original Shared Link

[azmom3]

Thank you for all that information. My grandfather had Parkinsons and one of my brother's had diabetes.

I noticed that your daughter was diagnosed with Aspergers....how much have the symptoms improved with a gluten free diet? Also, I would assume you're pretty knowledgeable about this syndrome...my son exhibits many, but not all of the symptoms, and I'm wondering if you know if there's a wide spectrum for how this affects kids. We are pretty sure he is ODD. He has every symptom of that. In addition to those symptoms though, he exhibits many of the ones under Aspergers, but some he doesn't have at all. I strongly suspect celiac as well. We've always been told he's just small, but he looks very skinny and pale to us. His behavioral problems have gotten out of control and just due to the fact that his brother was just diagnosed, makes us wonder. There are so many things out there and I feel like we have to do all the research and then go to the doctors with what we think is going on. Any insight you could give, I'd greatly appreciate. Thanks!

[2kids4me]

[azmom3]

So what causes this, how do you get diagnose and is there anything else we can do besides the gluten-free diet? Natural or med's.

So much of this sounds like my son. I've been trying to figure out what was wrong with him for 5 years and nothing has ever quite matched his description. He seems very normal most of the time, but only has 1 friend that he met before he started having problems, has very poor social skills, is a walking/talking book of trivia and facts about anything and everything. In fact, he was even called "little professor" by several people. (I'm embarrassed to say, my 10 year old seems a lot smarter than me sometimes!). He is afraid of touching anything that might have germs on it (not a compulsive hand-washer), but seems borderline compulsive about coming in contact with something with germs. I've always thought he had someting wrong with his speech but couldn't quite put my finger on it. Sounds kind of like stuttering, but not the typical stuttering you would think of...it' s more of phrases or words that are repeated, not just one letter of a word. He had tubes put in when he was 15 months old, there was excessive scarring, and it was not a normal surgery because of this. He had 50% hearing loss in one ear for several years before we realized it. I attributed his speech to this. I did have a speech therapist at the school test him, explaining my concerns, and she said he was fine. It still just does not seem right to me though. It takes him a long time sometimes to tell us something simple. It's very frustrating for us sometimes. He is very sensitive to light and noise. He despises music and his eyes tear often in bright lights. He seems to find pleasure in teasing/picking on people far beyond what seems normal for a boy his age. He even teases his little 22 month old brother and the dogs. He has "outbursts" where he makes these screaming type noises. He seems out of control like he can't hear anything that's going on during this (they only last a couple seconds) and then he seems totally normal again. He is very sensitive, gets his feelings hurt very easily. He is full of "what if's".....what if the bus doesn't come on time? What if you're not there to get me? What if...what if....what if... He seems very scared to do something until he gets all these questions answered, but sometimes they seem like they could go on forever....again, much more out of the norm than should be expected. He doesn't seem to want to do much....almost a loner to a certain degree. He loves baseball, but doesn' t have much of a desire to try anything else. Even when his 1 friend comes over, he'll ask "what can we do?" He politely says "no" to almost every single thing.

Anyways, sorry to ramble. I'd love to get your thoughts on if this sounds like aspergers or not and I will check out the link you posted, too. Thanks again so much!

[2kids4me]

Your son sounds very much like Aspergers, all your questions should be answered on the link I posted - it has all sorts of info about diagnostics etc.

The speech pattern you describe is not uncommon wth aspergers. It may be a word retrieval issue or something called echolalia. As I described, my daughter has trouble with conversation, and to relate an event - it is often not chronological and she gets stuck on words, and when stressed has trouble finding the right words (word retreival).

Find a pediatrian who is familar with Aspergers and can help you find some answers. Once you know what it is, there are many approaches that can help a great deal - but individualized therapy is best. Our daughter required physical, occupational, speech and help with activities of daily living. Understanding what the deficits are - will help you help him.

For us, Aspergers has been a remarkable gift - insight I never would have had without Kathryn. Yes, there are many difficult days - but in as much as those days are hard for me dealing with the social blunders, the sensory issues, the school issues - how must it be for my daughter every day as she tries to fit into the neurotypical world? Enjoy the uniqueness and become his advocate, learn how to help him the best you can, develop special talents - he has a knack for trivia - fiqure out how he can use that during his lifetime to reach goals.

There are no meds that cure Aspergers, it is neurologicl glitch (so to speak) - it is the way his brain is wired. Natural approach? Love and finding out about the syndrome and how best to work with him and understand his world.

We adpated the way we do things to avoid loud noise (it bother her too) - we watch movies at home instead of a theater. The sensitvity to light and sound is common as some children have said they see rainbows in flourescent light (they are seeing the color spectrum where "normal" kids would not)... try doing your work under a rainbow! They dont filter sound as well so small noises or sounds most people would not hear - are audible to them. That is why so many behavior problems erupt or else they "tune out" and seem innattentive or rude - their brain is overstimulated and can't cope with all that input.

[azmom3]

Your son sounds very much like Aspergers, all your questions should be answered on the link I posted - it has all sorts of info about diagnostics etc.

The speech pattern you describe is not uncommon wth aspergers. It may be a word retrieval issue or something called echolalia. As I described, my daughter has trouble with conversation, and to relate an event - it is often not chronological and she gets stuck on words, and when stressed has trouble finding the right words (word retreival).

Find a pediatrian who is familar with Aspergers and can help you find some answers. Once you know what it is, there are many approaches that can help a great deal - but individualized therapy is best. Our daughter required physical, occupational, speech and help with activities of daily living. Understanding what the deficits are - will help you help him.

For us, Aspergers has been a remarkable gift - insight I never would have had without Kathryn. Yes, there are many difficult days - but in as much as those days are hard for me dealing with the social blunders, the sensory issues, the school issues - how must it be for my daughter every day as she tries to fit into the neurotypical world? Enjoy the uniqueness and become his advocate, learn how to help him the best you can, develop special talents - he has a knack for trivia - fiqure out how he can use that during his lifetime to reach goals.

Thanks again so much! He's going to the doctor for his yearly check-up in 2 weeks, I'm going to bring these things up and see if my doctor can help. If not, I will find one that will. We obviously just want to make him feel as good about himself as possible, and for me, it's being able to understand what's going through his head, so I can better know how to deal with him. I dont' want to discipline him for something that he doesn't have control over. And I agree with you about enjoying their uniqueness, etc. Thanks again for all the info, the link, and just taking the time to read about him and give your feedback. It's much appreciated!

[2kids4me]

You are very welcome. Be prepared for some testing - they cannot diagnose it in one office visit without ruling out other things. (my daughter had to have "psychoeducational profile" among other things. It varies according to doctors and the patient's symptoms as to what tests are needed. One important thing - does he make eye contact or look off to the side or look down when talking? They have trouble making eye contact. It an important detail to bring to the attention of the pediatrician. Outline your concerns in point form, and basically tell the doctor what you wrote here- you are very articulate so hopefully your doctor will help you find answers. Before then, Look at the site and the links it has - you can try using some of the suggestions from the site and see if they help

[azmom3]

You are very welcome. Be prepared for some testing - they cannot diagnose it in one office visit without ruling out other things. (my daughter had to have "psychoeducational profile" among other things. It varies according to doctors and the patient's symptoms as to what tests are needed. One important thing - does he make eye contact or look off to the side or look down when talking? They have trouble making eye contact. It an important detail to bring to the attention of the pediatrician. Outline your concerns in point form, and basically tell the doctor what you wrote here- you are very articulate so hopefully your doctor will help you find answers. Before then, Look at the site and the links it has - you can try using some of the suggestions from the site and see if they help

Yet another symptom...I never would've mentioned the lack of eye contact, as I always thought this was just his personality. He rarely, if ever, makes eye contact. I feel bad...I'm always scolding him and talking to him later about this being rude and that you look them in the eyes when you are taking to them or them to you. I just thought he was being lazy. This is why I need to know what's going on as I would handle things differently knowing he's not being lazy or rude or whatever, but it's just the way his mind works. I would think it would be much easier to have patience with him knowing this. You have have been SO helpful!!! Thank you!

[RollingAlong]

You were ahead of the science.

This blog post discusses a study showing co-morbidity between celiac and CF.

Open Original Shared Link

[Raven's Mum]

My six year old daughter with Cystic Fibrosis was just diagnosed with Celiac. They are actually starting to do marker testing for all the CFers in our CF clinic.

[ravenwoodglass]

My six year old daughter with Cystic Fibrosis was just diagnosed with Celiac. They are actually starting to do marker testing for all the CFers in our CF clinic.

Welcome to the board. It can be tough at first when diagnosed so don't be afraid to post any questions or vent a little. Make sure your whole family gets tested for celiac, even if they don't seem to have symptoms.

[Raven's Mum]

Welcome to the board. It can be tough at first when diagnosed so don't be afraid to post any questions or vent a little. Make sure your whole family gets tested for celiac, even if they don't seem to have symptoms.

Thank you! Yes, my son and I had planned on going and getting bloodwork done to start. I'm sure you'll hear some venting coming from me!