Newbie with question: rectal prolapse, negative tests

A

anonymous

New member
Hi! Our fourth son, Toby (18 months old) has many CF symptoms. The most troubling thing is his recurring partial prolapse.

He had a DNA screen for 32 mutations, which was negative.

Yesterday he had a sweat test at a CF center, and scored a 4.

Could he still have CF? Are there rarer mutations that will not show up in the sweat test, and were maybe also missed by his blood test?

Thanks for any info. Our family doctor has been almost no help, and I managed to get appointments with the lung people and the ped. gastro. at our Children's Hospital (which is our local cf care center) but we won't see them for a month and I wish I could have some more info about all this.

Other stuff about Toby: I had very severe polyhydramnios before he was born. He stopped growing so we induced at 37 weeks. He had a meconium obstruction but it was mild (he didn't poop for 4 days. After inserting a rectal thermometer twice, he had a huge, bulky, oily meconium poop). He was (still is) breastfed, and until he started solids at 10 months he always had frothy, pumpkin-mousse fatty poops. After solids, he often has diarrhea. Can't tolerate dairy, soy, or gluten. (has been dx'ed with celiac disease) He also has a chronic runny nose, and coughs at morning and bedtime. He gets 'colds' that are very mucousy, that he doesn't improve for a month or two at a time. He was also severely anemic at 12 months old. And now the prolapse. Our other 3 boys have always been at 90% or above for height and weight, and Toby has always been 40-50%. So he's average, but very small for our family.

Thanks for any thoughts! So far I've just had my internet research, nobody to talk to about it. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
A

anonymous

New member
Hi! Our fourth son, Toby (18 months old) has many CF symptoms. The most troubling thing is his recurring partial prolapse.

He had a DNA screen for 32 mutations, which was negative.

Yesterday he had a sweat test at a CF center, and scored a 4.

Could he still have CF? Are there rarer mutations that will not show up in the sweat test, and were maybe also missed by his blood test?

Thanks for any info. Our family doctor has been almost no help, and I managed to get appointments with the lung people and the ped. gastro. at our Children's Hospital (which is our local cf care center) but we won't see them for a month and I wish I could have some more info about all this.

Other stuff about Toby: I had very severe polyhydramnios before he was born. He stopped growing so we induced at 37 weeks. He had a meconium obstruction but it was mild (he didn't poop for 4 days. After inserting a rectal thermometer twice, he had a huge, bulky, oily meconium poop). He was (still is) breastfed, and until he started solids at 10 months he always had frothy, pumpkin-mousse fatty poops. After solids, he often has diarrhea. Can't tolerate dairy, soy, or gluten. (has been dx'ed with celiac disease) He also has a chronic runny nose, and coughs at morning and bedtime. He gets 'colds' that are very mucousy, that he doesn't improve for a month or two at a time. He was also severely anemic at 12 months old. And now the prolapse. Our other 3 boys have always been at 90% or above for height and weight, and Toby has always been 40-50%. So he's average, but very small for our family.

Thanks for any thoughts! So far I've just had my internet research, nobody to talk to about it. <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
J

julie

New member
Amy, quite honestly it sounds like CF to me. Does Toby have any lung congestion, infections, sinus problems as well? Some people with CF have ONLY digestive problems, some have ONLY lung problems, others have ONLY Reproductive problems. So lack of one of those does not at all rule out CF. I am more or less curious about any lung involvement.

I take it that you had the sweat test done at the pedi office, correct? It is very important to have this test done at an accredited CF center, you can find one near you buy visiting <a target=new class=ftalternatingbarlinklarge href="http://www.cff.org">www.cff.org</a>. Often times, tests conducted in a pedi office, as good as the office's intention is; are grossly inaccurate.

Additionally, I would push for an extended panel CF test. There are over 1000 known CF mutations, your son may not have two of the 32 most common that he was tested for. Not many people diagnosed these days have the common ones anymore. Quest Diagnostics laboratory has a great extended panel test and I would urge you tu push the doctors for it. It usually requires authorization through insurance because it is costly, but that is all dependent upon your insurance company.

Best of luck and come back with more questions whenever you need to ! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
J

julie

New member
Amy, quite honestly it sounds like CF to me. Does Toby have any lung congestion, infections, sinus problems as well? Some people with CF have ONLY digestive problems, some have ONLY lung problems, others have ONLY Reproductive problems. So lack of one of those does not at all rule out CF. I am more or less curious about any lung involvement.

I take it that you had the sweat test done at the pedi office, correct? It is very important to have this test done at an accredited CF center, you can find one near you buy visiting <a target=new class=ftalternatingbarlinklarge href="http://www.cff.org">www.cff.org</a>. Often times, tests conducted in a pedi office, as good as the office's intention is; are grossly inaccurate.

Additionally, I would push for an extended panel CF test. There are over 1000 known CF mutations, your son may not have two of the 32 most common that he was tested for. Not many people diagnosed these days have the common ones anymore. Quest Diagnostics laboratory has a great extended panel test and I would urge you tu push the doctors for it. It usually requires authorization through insurance because it is costly, but that is all dependent upon your insurance company.

Best of luck and come back with more questions whenever you need to ! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
A

anonymous

New member
DS was born with a bowel obstruction because of meconium illeus. Based on the type of blockage, the twisting, rotation, etc. the surgeon told us at the time that 99% of the time it's caused by cystic fibrosis. A blood test was performed and sent to Mayo clinic -- while we waited in the NICU for the test results to come back, they treated DS as if he had CF. We were at a hospital that was part of an accreditted CF program. Meanwhile a sweat test was conducted -- those tests showed DS did NOT have CF -- normal levels. Another blood test was ordered because the local hospital where ds was born had ordered those and they wanted to make sure they had enough blood to test and that it was tested at a proper facility -- both of the blood tests came back positive for CF -- homozygous deltaf508. Liza
 
A

anonymous

New member
DS was born with a bowel obstruction because of meconium illeus. Based on the type of blockage, the twisting, rotation, etc. the surgeon told us at the time that 99% of the time it's caused by cystic fibrosis. A blood test was performed and sent to Mayo clinic -- while we waited in the NICU for the test results to come back, they treated DS as if he had CF. We were at a hospital that was part of an accreditted CF program. Meanwhile a sweat test was conducted -- those tests showed DS did NOT have CF -- normal levels. Another blood test was ordered because the local hospital where ds was born had ordered those and they wanted to make sure they had enough blood to test and that it was tested at a proper facility -- both of the blood tests came back positive for CF -- homozygous deltaf508. Liza
 
H

hhhhhmom

New member
Hi Amy,

I just signed in too (I had asked about the sweat test and what a borderline result meant.)

I'm still looking for answers to my son's medical problems and I don't know if it is cf or not, but DON'T do what I did! I KNEW there was something wrong with my son for 7 years but doctors and family and friends, etc. kept telling me I was overreacting so I listened to everyone and not my own gut feeling. You know your child. You see him every day, not just once in a while. If one doctor won't listen to you, move on. Also, something that has been helpful in my son's case is seeing an immunologist/rheumatologist.

PS: I have 4 boys, too, plus one sweet little girl.
 
H

hhhhhmom

New member
Hi Amy,

I just signed in too (I had asked about the sweat test and what a borderline result meant.)

I'm still looking for answers to my son's medical problems and I don't know if it is cf or not, but DON'T do what I did! I KNEW there was something wrong with my son for 7 years but doctors and family and friends, etc. kept telling me I was overreacting so I listened to everyone and not my own gut feeling. You know your child. You see him every day, not just once in a while. If one doctor won't listen to you, move on. Also, something that has been helpful in my son's case is seeing an immunologist/rheumatologist.

PS: I have 4 boys, too, plus one sweet little girl.
 
A

anonymous

New member
Right, it was at a CF center. Riley Children's hospital here in Indianapolis.

Toby does have chronic runny nose, mucus in the lungs, and cough. Sometimes we think he's over his 'cold' and then he laughs really hard (or cries <img src="i/expressions/face-icon-small-sad.gif" border="0"> ) and starts coughing.

Well, I will certainly push for the extended test when we see the CF doctors next month. I guess between now and then my goal is to keep him healthy! If we can avoid colds and keep his mucus to a reasonable level, maybe he won't prolapse between now and then.

I'll keep you all updated. Thanks for the replies!
 
A

anonymous

New member
Right, it was at a CF center. Riley Children's hospital here in Indianapolis.

Toby does have chronic runny nose, mucus in the lungs, and cough. Sometimes we think he's over his 'cold' and then he laughs really hard (or cries <img src="i/expressions/face-icon-small-sad.gif" border="0"> ) and starts coughing.

Well, I will certainly push for the extended test when we see the CF doctors next month. I guess between now and then my goal is to keep him healthy! If we can avoid colds and keep his mucus to a reasonable level, maybe he won't prolapse between now and then.

I'll keep you all updated. Thanks for the replies!
 
J

julie

New member
I'm sorry, I read in the post that she couldn't get into the CF center for a month so I was assuming it was done at a pedi center but I did just see above that it was done at a CF center-oops.

Amy, maybe you could get a log in or sign your name. It starts to get confusing when lots of anonymous' post and it's hard to figure out who's who <img src="i/expressions/face-icon-small-smile.gif" border="0">

Your pediatric doctor should be able to order an extended panel mutation test, there is no need to wait for the CF center visit. Quest Diagnostics is GREAT! and if your doctor has never sent anything to them they will explain the process to him, tell him where to mail the blood (or the lab at your doctors office) and so on. They are VERY helpful! I woudn't wait a month if I were you.
 
J

julie

New member
I'm sorry, I read in the post that she couldn't get into the CF center for a month so I was assuming it was done at a pedi center but I did just see above that it was done at a CF center-oops.

Amy, maybe you could get a log in or sign your name. It starts to get confusing when lots of anonymous' post and it's hard to figure out who's who <img src="i/expressions/face-icon-small-smile.gif" border="0">

Your pediatric doctor should be able to order an extended panel mutation test, there is no need to wait for the CF center visit. Quest Diagnostics is GREAT! and if your doctor has never sent anything to them they will explain the process to him, tell him where to mail the blood (or the lab at your doctors office) and so on. They are VERY helpful! I woudn't wait a month if I were you.
 
C

Cheryl2424

New member
I know this sounds funny, but when you kiss him does he taste salty? My daughter wasn't diagnosed until she was 3 months old. She was labeled as failure to thrive and they (the doctors) just kept telling me I was a nervous mother! I kept telling them she was sweaty all the time, but what I really should have said is that she tasted salty! I could even smell the salt....
 
C

Cheryl2424

New member
I know this sounds funny, but when you kiss him does he taste salty? My daughter wasn't diagnosed until she was 3 months old. She was labeled as failure to thrive and they (the doctors) just kept telling me I was a nervous mother! I kept telling them she was sweaty all the time, but what I really should have said is that she tasted salty! I could even smell the salt....
 
A

anonymous

New member
Amy,
We've used the pediatric pulmos thru Riley. (Dr. Macke & Dr. Stephens are the two we've seen.) Anyway, you do NOT have to wait for the appt. You can call the nurse line and talk to the nurse. Tell her you want to request the extended genetic panel through quest diagnostics or ambry and why. She'll discuss it with the drs and if they agree it's warranted, they'll have the nurse order it over the phone. Depending on when your appt is, you may even have the results in by then. It will also help if you contact your health insurance carrier first to determine what process is needed to order the extended genetic panel. Good luck!
 
A

anonymous

New member
Amy,
We've used the pediatric pulmos thru Riley. (Dr. Macke & Dr. Stephens are the two we've seen.) Anyway, you do NOT have to wait for the appt. You can call the nurse line and talk to the nurse. Tell her you want to request the extended genetic panel through quest diagnostics or ambry and why. She'll discuss it with the drs and if they agree it's warranted, they'll have the nurse order it over the phone. Depending on when your appt is, you may even have the results in by then. It will also help if you contact your health insurance carrier first to determine what process is needed to order the extended genetic panel. Good luck!
 
You must log in or register to reply here.
Top