Are these symptoms of CF? I hate to bother you all.

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anonymous

New member
I'm a little worried about my 14 month old daughter. She has had some weird symptoms over the past few weeks and when I look back, she has had symptoms from the beginning. She has always tasted saltier than my older children. She gets actually a salty, crystal like build up on her eyebrows and between her eyes (this has been happening since birth). I am finding salty skin as a symptom of CF but what about actual salt build up?

She hasn't really had any respiratory issues except that she was a 35 week preemie and on a vent for 4 days and she had bronchiolitis last spring and colds/coughs like the rest of the family. She is allergic to milk/dairy (it gives her mucussy bloody stools and makes her very sleepy). Her poop STINKS but I always assumed that was from her Nutramigen formula. It doesn't look fatty. She has always been underweight. She has thin arms and legs but her belly is big. Her nose is snotty a lot and she snores and sounds junky when she sleeps. Her chest usually sounds fine and she usually doesn't have a cough or anything. The newest thing that I have noticed is that her armpits actually have a odor like adult BO! My 14 month old! What could be causing all of this? Are these symtoms of CF? I have just started to look into this so I know almost nothing so far.

I have a call into our pediatrician and she will call me back tomorrow, I hope. But I am getting worried! Should I be worried or am I making a mountain out of a mole hill?

Thank you for your help.
 
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Robynnemarie

New member
Your daughter sounds alot like mine 13 years ago...
My daughter was born with severe ge reflux, sleep apnea, and had failure to
thrive until she was almost a year old. She was mostly in the hospital until she was 3 yrs old.
When Kate hit 10 yrs or so, she basically became symptom free until last year when she developed acute pancreatitis, and pneumonia.
She was also allergic to milk, and had very bloody stools.
However, the symptoms your daughter is having can be from many conditions.
The first thing to be done would be to have a sweat test. It is a very easy simple inexpensive test.

From what I have gone through, my child had the salty taste to her skin as well as crystals. The foul and greasy stools, but she never had an extended belly.

For peace of mind have CF ruled out. It's much easier to have it diagnosed early.
 
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anonymous

New member
The thing about CF is it doesn't affect everyone the same way. Some are more suseptible to respiratory issues, while others have more problems with digestive and are more "salty". And yes, a salty build up can happen. whenever my husband (who has CF) is in the sun for even 1/2 hour, or is doing some sort of work on a really hot day, I can actually see the salt crystalize on his back and his face.
Dairy is also a common problem affecting those with CF. apparently some can handle it ok, but the majority of those with CF have to stay away or they have serious issues. For my husband it causes him digestive issues (diarrhea that smells bad even on enzymes) as well as makes him have more phlegm.
I would recommend that you have your child tested for CF. Even if you cant recall a family history of it, because the sooner you find out exactly what is going on the sooner you can treat her and if it is CF, you will notice a difference as soon as you start treatments. There are two methods currently and both methods are covered by most insurance plans. There is a sweat test where they measure the chloride level in the sweat your child produces during an induction of rapid sweating. And if that comes back borderline, or even negative (because sometimes the tests have given a false negative) you can have a blood test done that will test for the most common type of CF genes, but if you work with a pediatrician or lab that has experience in CF they can do an expanded genetic test which widens the possibilities and is likely to give you better results.

I wish you luck with everything and please keep all of us posted. And don't worry about being a bother by asking questions, that is the purpose of this website!

Julie-wife of Mark 24
 
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anonymous

New member
I also think it is a good idea to get your daughter tested. A bloated tummy can be a sign of malabsorption. The fact that she has salt crystals and a salty taste is a strong indication that she should get tested. My nephew was four years old when he was diagnosed with cf. He was only tested after my newborn daughter tested positive for cf. He had only minor digestive problems (no respiratory) up until that time and the doctors did not "think" to test him since there was no family history. My daughter has not had ANY respiratory problems in the past two and a half years (praise God!), just digestive. Don't let your child's pediatrician talk you out of testing your daughter. She obviously would have tested your child by now if she thought your daughter had it. Sometimes doctors can't recognize cf if it staring them in the face. Also make sure your daughter is tested at a cf clinic. Local hospitals are more likely to have inaccurate results on a sweat test.

Here is a website with a lot of info/symptoms on cf.
http://www3.nbnet.nb.ca/normap/CF.htm
Try to enjoy the holidays and not worry too much! Keep us updated and I will be praying for a negative result.

Sharon, mom of Sophia, 3 and Jack, 15 months old both with cf, aunt to Joseph, 7 with cf
 
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arabeth

Guest
Hi... I would have to agree with everyone else. Definately have her tested. Either way, you'll know. Hopefully you'll be reassured that she does not have CF but even if the test is positive, she can be treated properly to prevent unnessary damage from being done. The one thing I would really like to stress, though, is what the previous person, Sharon, said below, "do not let your pediatrician talk you out of having her tested"... and don't be suprised if that's exactly what she tries to do. I had to absolutely insist that my (former) pediatrician test my oldest daughter. I had never heard of CF prior to my daugher. There was no family history anywhere on either side of the family. I always knew there was something wrong with her but I couldn't get the doctors to take me seriously. I was reading medical books left and right trying to figure it out and when I came across Cystic Fibrosis it answered every question I had. I had to practically beg my pediatrician to give me a script for the sweat test. He insisted that is not what was wrong with her and did not want to order the test. I wouldn't back down and he finally caved in and gave me the prescription for the test and sure enough it was positive. My daughter was near death at 2 1/2 years of age when I finally figured out what was wrong with her. She just turned 10 last week and hasn't been sick a single day since she turned 3. The diagnosis, which at the time seemed like a death sentence, was actually a lifesaver. Again, I hope and pray that your daughter does not have CF, and there's a good chance she doesn't, but it's always better to know for sure. Just don't take no for an answer when it comes to the test. You need to know for sure for your own sake.

Best Wishes to you and your family!
 
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anonymous

New member
I brought her to the doctor this morning and they took 4 vials of blood for tests. They are testing her for ciliac disease, adrenal problems, thyroid problems, allergies, pituitary problems and a few others that I can't remember because my head was spinning with all of the posibilities. Thank goodness for insurance! Those results will be in next week sometime. And depending on the results we will go to Boston next month for a sweat test and/or an adrenal ultrasound. The doctor said that she is glad we came in because with all of these symptoms adding up we can't ignore them but they could be symptoms of many different problems or none at all. This is so confusing.

The doctor did say though that the newborn screeing test that they did when my daughter was a baby was negative for CF. How accurate is that test? Are there other blood tests for CF?

I have two older kids and my 14 month old is definitely snottier and junkier than they ever were. I hope we figure this out soon.

This is really scaring me! Thanks for your help! And I hope you don't mind me lurking around to learn more.

<img src="i/expressions/face-icon-small-smile.gif" border="0">Steph
 
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anonymous

New member
yes there are blood tests that locate the specific CF gene. and sweat tests have given off false negatives many a time before, hence the genetic blood tests. With the vials your doctor took, he could easily call the lab and add on an EXPANDED cf genetic test. I would recommend it.

Best of luck,

Julie
 
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anonymous

New member
Also, I was wondering why you are waiting to do the sweat test? Is it because that is their soonest appointment or does your doctor want you to wait. There is no harm in doing the sweat test while you wait for the blood test results. I see you said "go to boston", is that far from where you live and that is why you are waiting?
I am just curious because the sooner you know the soone you can start to treat her. Maybe just make an appointment now and then if the tests come back on something else, you can cancel the appointment.
CF can sometimes be coupled with other genetic or non genetic conditions, so dont' rule it out even if they say it looks like something else.

Best of luck,
Julie
 
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anonymous

New member
We live on an island so we either have to go by boat then drive (5 hours total) or fly (1 hour but $200), that's why we are waiting. Next month is only a few weeks away. I'm going to call now to see if the other test can be added to the blood that was already taken. But it's probably too late because the blood was probably already sent to a lab on the mainland.

What about the accuracy of the newborn CF screen? Her's was negative.

<img src="i/expressions/face-icon-small-smile.gif" border="0">Steph
 
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NoDayButToday

New member
I'm assuming that the tests your daughter has as a newborn was through one of those new laws states have enacted. If so, chances are it only tested for the 25 or so most common mutations (otherwise, I'd imagine the tests would be extremely expensive for the state). Which means, that if your daughter does in fact have CF and have rarer mutations, there's a CHANCE that the newborn test was incorrect. There is a blood test provided by Ambry (?) Genetics, that is a blood test which tests for all mutations. Sweat tests can be borderline, so it may be a good idea to also have the Ambry Genetics test. Good Luck
 
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anonymous

New member
Just to reiterate what Coll said, there are over 1000 mutations and most newborn screenings only test for the most common 25. It's really good that her newborn screen was negative but it does NOT mean she can't have cf. Good luck.
 
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anonymous

New member
Steph, I'll ditto what coll and the last poster said. There are many cases where CF tests on infants have been negative (as more and more states are requiring infant testing) but some symptoms show so then the parents do an extended mutation panel and/or sweat test (sometimes in combination) and they results show positive.

Most blood labs keep blood specimines for 2-3 weeks before discarding of them, so usually if it's within 1-2 weeks they can easily add on an additional test if they drew the right colored tube. It wouldn't hurt to call and ask-as I believe you said you did, or were going to do. I would at least call and ask.

Best of luck with everything and keep all of us posted on what you find out, you are in our familys thoughts and prayers

Julie-wife to Mark 24 w/CF
 
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