CRMS baby: probabilities that it will become CF?

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sanfloraine

Guest
My baby is 23 months old and has pancreas problems. He is PI and taking Zenpep with all meals/snacks. He had the whole CF sequencing test (without deletions and repetitions) and they found one mutation that is related to his pancreas problems.

He has CRMS, we were told by his GI doctor his probabilities of developing CF are very low... Are they really that low??

His newborn test as well as 2 sweat tests were fully negative.. And he has never had pneumonia. But he has asthma (taking Flovent) and had a sinusitis last Summer, lots of allergies with cough and congestion. Does this increase his risk for CF or not?

Family history: I too have asthma (severe shortness of breath, started at 18) as well as severe stomach pains/reflux at times that have yet to be explained (started at 32) - I am 43.

We'd like to believe he will never develop CF...
 
S

sanfloraine

Guest
My baby is 23 months old and has pancreas problems. He is PI and taking Zenpep with all meals/snacks. He had the whole CF sequencing test (without deletions and repetitions) and they found one mutation that is related to his pancreas problems.

He has CRMS, we were told by his GI doctor his probabilities of developing CF are very low... Are they really that low??

His newborn test as well as 2 sweat tests were fully negative.. And he has never had pneumonia. But he has asthma (taking Flovent) and had a sinusitis last Summer, lots of allergies with cough and congestion. Does this increase his risk for CF or not?

Family history: I too have asthma (severe shortness of breath, started at 18) as well as severe stomach pains/reflux at times that have yet to be explained (started at 32) - I am 43.

We'd like to believe he will never develop CF...
 
H

Havoc

New member
Well, one doesn't "develop" CF. He either has it or he doesn't. When you say he had the whole CF sequencing, do you know if this was the Ambry test that screens for all 1800 and something mutations? Also, you mention that he had 2 sweat tests, did they ever do a nasal potential difference? The reason I ask is that a lot of people with CF have normal sweat tests and some even have normal nasal PD. Are you at a CF clinic getting these evaluations done or is this just a regular GI doc? Sorry for the questions, but we need some more information to help you out.

ETA: Do you know which mutation they did find?
 
H

Havoc

New member
Well, one doesn't "develop" CF. He either has it or he doesn't. When you say he had the whole CF sequencing, do you know if this was the Ambry test that screens for all 1800 and something mutations? Also, you mention that he had 2 sweat tests, did they ever do a nasal potential difference? The reason I ask is that a lot of people with CF have normal sweat tests and some even have normal nasal PD. Are you at a CF clinic getting these evaluations done or is this just a regular GI doc? Sorry for the questions, but we need some more information to help you out.

ETA: Do you know which mutation they did find?
 
S

sanfloraine

Guest
Thanks for your help!

No it was not Ambry. It was a local sequencing test that screens for the 1800 mutations excepted for the deletion and repetitions.

Yes the 2 sweat tests were at a CF clinic. He is not being followed there - as they only accept clear cut CF cases, no CRMS cases. He is being followed by a regular GI doctor.

A nasal potential difference test has never been suggested to us...

I have the mutation name somewhere, will look for it.
 
S

sanfloraine

Guest
Thanks for your help!

No it was not Ambry. It was a local sequencing test that screens for the 1800 mutations excepted for the deletion and repetitions.

Yes the 2 sweat tests were at a CF clinic. He is not being followed there - as they only accept clear cut CF cases, no CRMS cases. He is being followed by a regular GI doctor.

A nasal potential difference test has never been suggested to us...

I have the mutation name somewhere, will look for it.
 
S

SarahProcter

Guest
Unfortunately, you can't really judge based on symptoms, especially for a young child.

Your child has many more symptoms than mine, and mine DOES have CF (confirmed two disease-causing mutations).

My daughter is pancreatic sufficient, had borderline-to-normal sweat tests, and has no respiratory issues or asthma or sinus problems. And she has CF. Which we treat, proactively, in order to give her the best chance of a long and healthy life.

I think ill of your local CF center for not tracking and treating your child. Our CF center still tracks and treats kids that they define as CRMS. Is there another center within travel distance where you might obtain a second opinion?
 
S

SarahProcter

Guest
Unfortunately, you can't really judge based on symptoms, especially for a young child.

Your child has many more symptoms than mine, and mine DOES have CF (confirmed two disease-causing mutations).

My daughter is pancreatic sufficient, had borderline-to-normal sweat tests, and has no respiratory issues or asthma or sinus problems. And she has CF. Which we treat, proactively, in order to give her the best chance of a long and healthy life.

I think ill of your local CF center for not tracking and treating your child. Our CF center still tracks and treats kids that they define as CRMS. Is there another center within travel distance where you might obtain a second opinion?
 
S

sanfloraine

Guest
Sarah: may I ask what treatements your daughter is having?

My boy is also prone to infections: currently having a double ears infection and one eye infection, he is going to have adenoid surgery soon to try to prevent that problem.

Yes we have had problems with the local CF clinic, CF gastro doctor thought he had toddler diarrhea... unfortunately no other clinic around here - if needed we'll fly to an other one, not convenient though.
 
S

sanfloraine

Guest
Sarah: may I ask what treatements your daughter is having?

My boy is also prone to infections: currently having a double ears infection and one eye infection, he is going to have adenoid surgery soon to try to prevent that problem.

Yes we have had problems with the local CF clinic, CF gastro doctor thought he had toddler diarrhea... unfortunately no other clinic around here - if needed we'll fly to an other one, not convenient though.
 
S

SarahProcter

Guest
She does regular CF clinic visits, where they monitor her and do periodic cultures and listen to her lungs. She does the standard annual imaging and blood work to make sure that her lungs are doing well and that her fat-soluble vitamin levels are in the right place, her liver is fine, etc. She gets seen and listened to by the CF clinic any time she has a lingering cough, and is given antibiotics as a precaution if a cough stays too long or her lungs don't sound great. She does twice-daily albuterol, nebulized hypertonic saline, and vest CPT. It's annoying. It's burdensome. It's time consuming. I don't like it. I would rather that she not have CF. It would be easy for me to pretend that she doesn't because she is pancreatic sufficient and healthy. Unfortunately, she has CF, and the best practices for CF treatment tell us that proactive management leads to best outcomes. So, we lump it.

The clinic we go to, UCSF in San Francisco, would monitor and treat your child. I wish that your local one would. I would consider investigating flying to another clinic for a work-up.
 
S

SarahProcter

Guest
She does regular CF clinic visits, where they monitor her and do periodic cultures and listen to her lungs. She does the standard annual imaging and blood work to make sure that her lungs are doing well and that her fat-soluble vitamin levels are in the right place, her liver is fine, etc. She gets seen and listened to by the CF clinic any time she has a lingering cough, and is given antibiotics as a precaution if a cough stays too long or her lungs don't sound great. She does twice-daily albuterol, nebulized hypertonic saline, and vest CPT. It's annoying. It's burdensome. It's time consuming. I don't like it. I would rather that she not have CF. It would be easy for me to pretend that she doesn't because she is pancreatic sufficient and healthy. Unfortunately, she has CF, and the best practices for CF treatment tell us that proactive management leads to best outcomes. So, we lump it.

The clinic we go to, UCSF in San Francisco, would monitor and treat your child. I wish that your local one would. I would consider investigating flying to another clinic for a work-up.
 
B

Beccamom

New member
If you have the ability to do so please fly to another CF clinic to make sure your child is monitored for symptoms of CF. I have a 12 year old in CF diagnositic limbo basically her whole life, but recently we really pursued testing beginning Dec 2010. The first pulmonologist she saw as a baby decided CF was imposible based on 1 sweat test and the following 12 years were filled with wrong diagnosis, decreasing lung function, a really sick kid with hospitalizations, and side affects from the wrong medicines.

Now she is followed by a CF specialist and according to my pediatrician from the same hospital system will get her official diagnosis based on her recent tests that came back this week. She is being treated like a CF patient and her lung funtion is way up, and her quality of life is drasticallly improved.

I was a young mom and fealt that doctors knew everything. I now know that they are educatied people, not robuts. They are just as imperfect as the rest of us.

Go with your mother's instinct because with CF early treatment is the key to long term health.
Jen
 
B

Beccamom

New member
If you have the ability to do so please fly to another CF clinic to make sure your child is monitored for symptoms of CF. I have a 12 year old in CF diagnositic limbo basically her whole life, but recently we really pursued testing beginning Dec 2010. The first pulmonologist she saw as a baby decided CF was imposible based on 1 sweat test and the following 12 years were filled with wrong diagnosis, decreasing lung function, a really sick kid with hospitalizations, and side affects from the wrong medicines.

Now she is followed by a CF specialist and according to my pediatrician from the same hospital system will get her official diagnosis based on her recent tests that came back this week. She is being treated like a CF patient and her lung funtion is way up, and her quality of life is drasticallly improved.

I was a young mom and fealt that doctors knew everything. I now know that they are educatied people, not robuts. They are just as imperfect as the rest of us.

Go with your mother's instinct because with CF early treatment is the key to long term health.
Jen
 
P

Printer

Active member
Havoc is correct, either you have CF or you don't, you CAN NOT develope it.

Having said that, your child has one KNOWN mutation. Known is the key word here. When I was first tested, in the early 1990's, there were only 250 KNOWN mutations. Today that number is between 1800 and 1900 and growing. Your son could have one of the UNKNOWN mutations.

If I were you, I would try to find a APPROVED CF CLINIC where thet would treat your child as an "Atypical (having only one mutation) CF patient".

Good luck,
Bill
 
P

Printer

Active member
Havoc is correct, either you have CF or you don't, you CAN NOT develope it.

Having said that, your child has one KNOWN mutation. Known is the key word here. When I was first tested, in the early 1990's, there were only 250 KNOWN mutations. Today that number is between 1800 and 1900 and growing. Your son could have one of the UNKNOWN mutations.

If I were you, I would try to find a APPROVED CF CLINIC where thet would treat your child as an "Atypical (having only one mutation) CF patient".

Good luck,
Bill
 
R

Ratatosk

Administrator
Staff member
IMO, needs to be treated at a CF clinic -- CPT or vest treatments to keep the lungs clear of congestion, regular cultures to see what bugs he may be growing in his lungs and appropriate antibiotics to treat those issues...
 
R

Ratatosk

Administrator
Staff member
IMO, needs to be treated at a CF clinic -- CPT or vest treatments to keep the lungs clear of congestion, regular cultures to see what bugs he may be growing in his lungs and appropriate antibiotics to treat those issues...
 
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