Undiagnosed, but worried.

LisaGreene

New member
CF is kind of funny. Different people have different symptoms. That's what sort of makes it so hard. I know of one person that was diagnosed because of severe skin problems. Turns out that CF causes vitamin deficiencies so it caused the skin issues. Smart doc that picked that one up...
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<br />So, your symptoms of lung, sinus, ear infections are within the realm of possibility. My children, both with CF, even at ages 10 & 12 don't cough that much unless they are sick.
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<br />So- the waiting is the hardest part. Hang in there. The CF Foundation has a good webpage that might help you at the point that you are now at. Here's the link: www.cff.org/AboutCF/Testing/NewbornScreening/
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<br />We are rooting for you. As hard as this is, knowing what is going on will be a relief. And you can then care for your baby knowing that you are giving him your best.
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<br />Hugs and Hope, Lisa
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<br />- I thought I'd add to this to address your new post about weight gain- it IS hard to know if your first born child has normal stool. I really struggled with that with my son- the docs kept saying: "Is it normal?" And I was like: "What does normal look like?!" Ask your friends if you can watch when they change their child's diaper. Of course it probably should be a really good friend that understands the situation or you may get really weird looks and a phone call from DSHS. ;-)
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<br />Low weight and acid reflux are also common issues associated with CF. You have some of the "signs" but don't leap to conclusions yet. There is also the possibility of having certain CF genetic mutations that cause some of the symptoms but not classified as having "true" CF. It's very complicated and research is still going on with this. Here's a quote:
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<br />"Mutations in the CFTR gene can cause CF, but not all CFTR mutations are disease-causing. The term CFTR-related metabolic syndrome (CRMS) is proposed to describe infants identified by hypertrypsinogenemia on NBS who have sweat chloride values <60 mmol/L and up to 2 CFTR mutations, at least 1 of which is not clearly categorized as a "CF-causing mutation," thus they do not meet CF Foundation guidelines for the diagnosis of CF."
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<br />Get the sweat test as soon as you can. The quicker you know, the better you'll be able to take proper care of your baby. If he does have CF, he needs to get onto pancreatic enzymes as soon as possible to help with the weight gain and reflux.
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<br />Take good care.
 

martysmom

New member
I totally agree with having no clue what to look for. Marty is my first child and in the beginning his weight gain was okay. Once he started eating foods and I stopped nursing, he dropped a lot! From the 50th percentile to the 5th. It was scary but I never thought about the stools. I actually still have no idea what normal baby poop looks like. Since his weight gain is poor maybe recomment a stool study. It will ease you mind and help find answers. The stool tests are what led us to Marty's diagnosis.
 

martysmom

New member
I totally agree with having no clue what to look for. Marty is my first child and in the beginning his weight gain was okay. Once he started eating foods and I stopped nursing, he dropped a lot! From the 50th percentile to the 5th. It was scary but I never thought about the stools. I actually still have no idea what normal baby poop looks like. Since his weight gain is poor maybe recomment a stool study. It will ease you mind and help find answers. The stool tests are what led us to Marty's diagnosis.
 

martysmom

New member
I totally agree with having no clue what to look for. Marty is my first child and in the beginning his weight gain was okay. Once he started eating foods and I stopped nursing, he dropped a lot! From the 50th percentile to the 5th. It was scary but I never thought about the stools. I actually still have no idea what normal baby poop looks like. Since his weight gain is poor maybe recomment a stool study. It will ease you mind and help find answers. The stool tests are what led us to Marty's diagnosis.
 

NixxonsMama

New member
this is alot to take in, since i am very ignorant to the situation.. looks like i have my research cut out for me, and i really appreciate everyones help on this. He was released from the hospital yesterday evening and his sweat test is scheduled for monday morning (this is very quick where i'm from) and they told me it should only take a couple days for results to be sent to our ped. Today, on the advice of my ped, I am going to buy an air purifier specifically for my DS's bedroom.. is this something you moms suggest??
 

NixxonsMama

New member
this is alot to take in, since i am very ignorant to the situation.. looks like i have my research cut out for me, and i really appreciate everyones help on this. He was released from the hospital yesterday evening and his sweat test is scheduled for monday morning (this is very quick where i'm from) and they told me it should only take a couple days for results to be sent to our ped. Today, on the advice of my ped, I am going to buy an air purifier specifically for my DS's bedroom.. is this something you moms suggest??
 

NixxonsMama

New member
this is alot to take in, since i am very ignorant to the situation.. looks like i have my research cut out for me, and i really appreciate everyones help on this. He was released from the hospital yesterday evening and his sweat test is scheduled for monday morning (this is very quick where i'm from) and they told me it should only take a couple days for results to be sent to our ped. Today, on the advice of my ped, I am going to buy an air purifier specifically for my DS's bedroom.. is this something you moms suggest??
 

Ratatosk

Administrator
Staff member
DS was born with a bowel obstruction caused by meconium illeus, so that's how we found out he had cf. Really no lung symptoms, mostly sinus, had reflux. The stools drove me nuts as we were first time parents and we were constantly being told we'd KNOW what normal stools looked like. Hello, didn't have a clue! And DS really didn't have normal looking stools until a couple years ago when we sorta got his digestion, enzymes, etc. figured out.

As for the sweat test, sometimes with infants it isn't exactly accurate and may be difficult to get a good sample. DS' had his at 3-4 weeks and it was normal; however, if he had it today, based on the amount of salt he sweats, I'm sure it's be elevated significantly.

As for air cleaners, avoid the ones with ionization, like the ones they sell at sharper image. Look for ones with a hepa filter and charcoal prefilters. We have a whirlpool whispersure, though there are a number of more that are much cheaper at your local big box home improvement center.
 

Ratatosk

Administrator
Staff member
DS was born with a bowel obstruction caused by meconium illeus, so that's how we found out he had cf. Really no lung symptoms, mostly sinus, had reflux. The stools drove me nuts as we were first time parents and we were constantly being told we'd KNOW what normal stools looked like. Hello, didn't have a clue! And DS really didn't have normal looking stools until a couple years ago when we sorta got his digestion, enzymes, etc. figured out.

As for the sweat test, sometimes with infants it isn't exactly accurate and may be difficult to get a good sample. DS' had his at 3-4 weeks and it was normal; however, if he had it today, based on the amount of salt he sweats, I'm sure it's be elevated significantly.

As for air cleaners, avoid the ones with ionization, like the ones they sell at sharper image. Look for ones with a hepa filter and charcoal prefilters. We have a whirlpool whispersure, though there are a number of more that are much cheaper at your local big box home improvement center.
 

Ratatosk

Administrator
Staff member
DS was born with a bowel obstruction caused by meconium illeus, so that's how we found out he had cf. Really no lung symptoms, mostly sinus, had reflux. The stools drove me nuts as we were first time parents and we were constantly being told we'd KNOW what normal stools looked like. Hello, didn't have a clue! And DS really didn't have normal looking stools until a couple years ago when we sorta got his digestion, enzymes, etc. figured out.
<br />
<br />As for the sweat test, sometimes with infants it isn't exactly accurate and may be difficult to get a good sample. DS' had his at 3-4 weeks and it was normal; however, if he had it today, based on the amount of salt he sweats, I'm sure it's be elevated significantly.
<br />
<br />As for air cleaners, avoid the ones with ionization, like the ones they sell at sharper image. Look for ones with a hepa filter and charcoal prefilters. We have a whirlpool whispersure, though there are a number of more that are much cheaper at your local big box home improvement center.
 

NixxonsMama

New member
thanks! i bought one yesterday afternoon and it is a "true hepa" so hopefully it helps.. i guess it can't hurt.

his sweat test is scheduled for tomorrow morning, but as i've been constantly researching its telling me that you can literally taste the salt on your child when they sweat, if their levels are elevated, i can't with him.. but i suppose this doesn't necessairly mean much.. he has had sinus problems for about 4 months now, and was diagnosed with reflux at 18days old, and has been hospitalized several times for both issues.. i guess it'll be better to know.. if it comes back positive.. then im ready for that.. and if it comes back negative then i know i need to keep searching for answers.. hes currently on prednisone, clavulin, nasonex, ortivin, and pulmicort and ventilin in the mask.. and doesnt seem to be improving much.. something is wrong with that situation to me.
 

NixxonsMama

New member
thanks! i bought one yesterday afternoon and it is a "true hepa" so hopefully it helps.. i guess it can't hurt.

his sweat test is scheduled for tomorrow morning, but as i've been constantly researching its telling me that you can literally taste the salt on your child when they sweat, if their levels are elevated, i can't with him.. but i suppose this doesn't necessairly mean much.. he has had sinus problems for about 4 months now, and was diagnosed with reflux at 18days old, and has been hospitalized several times for both issues.. i guess it'll be better to know.. if it comes back positive.. then im ready for that.. and if it comes back negative then i know i need to keep searching for answers.. hes currently on prednisone, clavulin, nasonex, ortivin, and pulmicort and ventilin in the mask.. and doesnt seem to be improving much.. something is wrong with that situation to me.
 

NixxonsMama

New member
thanks! i bought one yesterday afternoon and it is a "true hepa" so hopefully it helps.. i guess it can't hurt.
<br />
<br />his sweat test is scheduled for tomorrow morning, but as i've been constantly researching its telling me that you can literally taste the salt on your child when they sweat, if their levels are elevated, i can't with him.. but i suppose this doesn't necessairly mean much.. he has had sinus problems for about 4 months now, and was diagnosed with reflux at 18days old, and has been hospitalized several times for both issues.. i guess it'll be better to know.. if it comes back positive.. then im ready for that.. and if it comes back negative then i know i need to keep searching for answers.. hes currently on prednisone, clavulin, nasonex, ortivin, and pulmicort and ventilin in the mask.. and doesnt seem to be improving much.. something is wrong with that situation to me.
 

jendonl

New member
Even if the sweat test comes back negative, you can't completely rule out CF. Some people with CF do not have elevated sweat tests. Push for the genetic test.
 

jendonl

New member
Even if the sweat test comes back negative, you can't completely rule out CF. Some people with CF do not have elevated sweat tests. Push for the genetic test.
 

jendonl

New member
Even if the sweat test comes back negative, you can't completely rule out CF. Some people with CF do not have elevated sweat tests. Push for the genetic test.
 

BaylorCrew07

New member
agreed - even if the sweat test is negative, it cannot rule out CF. If he is still having problems, I would really push for the Ambry Amplified genetic test -- it tests for the largest # of mutations and is MUCH more accurate.

As for tasting salt, some you can, and others you can't. People on here have had negative sweat tests, but still have CF. Mine sweat tests were negative and borderline, but genetic tests revealed I DO have CF. As stated above, it really presents differently in each individual.

Best of luck, and hope you get some difinitive answers soon <img src="i/expressions/heart.gif" border="0">
 
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