Confused

M

movrich

New member
My 3yr old has had GI probs since birth. He did have Pneumonia at age 2. We finally have a Doc that sent us to GI specialist that has started the CF determination. We have gone from high sweat test results (40's) to blood test, etc.

We just went to a milk free diet for him (doc recommended) and for the first time in 2+ years we are seeing a 'solid' stool from him. He takes Mirolax daily (has for more than a year now and advised by doc to continue at this time.)

Told today from the blood test results he may have mild case of CF he has 1 CF mutation. Told to go see Pulmonary and then also do the stool sample to verify pancreas ability or lack their of.

Does this mean he has CF?

What questions do I need to ask, calling doc office again to better understand what we have been told.
 
M

movrich

New member
My 3yr old has had GI probs since birth. He did have Pneumonia at age 2. We finally have a Doc that sent us to GI specialist that has started the CF determination. We have gone from high sweat test results (40's) to blood test, etc.

We just went to a milk free diet for him (doc recommended) and for the first time in 2+ years we are seeing a 'solid' stool from him. He takes Mirolax daily (has for more than a year now and advised by doc to continue at this time.)

Told today from the blood test results he may have mild case of CF he has 1 CF mutation. Told to go see Pulmonary and then also do the stool sample to verify pancreas ability or lack their of.

Does this mean he has CF?

What questions do I need to ask, calling doc office again to better understand what we have been told.
 
M

movrich

New member
My 3yr old has had GI probs since birth. He did have Pneumonia at age 2. We finally have a Doc that sent us to GI specialist that has started the CF determination. We have gone from high sweat test results (40's) to blood test, etc.
<br />
<br />We just went to a milk free diet for him (doc recommended) and for the first time in 2+ years we are seeing a 'solid' stool from him. He takes Mirolax daily (has for more than a year now and advised by doc to continue at this time.)
<br />
<br />Told today from the blood test results he may have mild case of CF he has 1 CF mutation. Told to go see Pulmonary and then also do the stool sample to verify pancreas ability or lack their of.
<br />
<br />Does this mean he has CF?
<br />
<br />What questions do I need to ask, calling doc office again to better understand what we have been told.
 
A

AleksandraKaczynska

New member
Hi,
At this stage you should concentrate on the dx if it is CF.
It may not - it may.
Sweat test in 40's in a 3 yr old is not very high - but above normal. My Joanna had a second sweat test half year ago and it was 112 - and she has a mild cf.
if you know one cf mutation you should ask for a genetic test most of all. You can also test yourselves for cf mutations.
It's good you're testing for pancreas ability - if youd child needs it - the sooner the better.

The only questions (I guess) would be what to do to help your child while waiting for test results and maybe to explain the numebers of the tests to you like what is "normal" and what is "cf". And what you should watch out for - symptoms - that should make you contact the cf center at once - and who to contact...
Make sure the test results come our clear - if they are not - ask for more testing - different genetic test or simply repeating them later.
Waiting for dx is the worst time of all....
Good luck
 
A

AleksandraKaczynska

New member
Hi,
At this stage you should concentrate on the dx if it is CF.
It may not - it may.
Sweat test in 40's in a 3 yr old is not very high - but above normal. My Joanna had a second sweat test half year ago and it was 112 - and she has a mild cf.
if you know one cf mutation you should ask for a genetic test most of all. You can also test yourselves for cf mutations.
It's good you're testing for pancreas ability - if youd child needs it - the sooner the better.

The only questions (I guess) would be what to do to help your child while waiting for test results and maybe to explain the numebers of the tests to you like what is "normal" and what is "cf". And what you should watch out for - symptoms - that should make you contact the cf center at once - and who to contact...
Make sure the test results come our clear - if they are not - ask for more testing - different genetic test or simply repeating them later.
Waiting for dx is the worst time of all....
Good luck
 
A

AleksandraKaczynska

New member
Hi,
<br />At this stage you should concentrate on the dx if it is CF.
<br />It may not - it may.
<br />Sweat test in 40's in a 3 yr old is not very high - but above normal. My Joanna had a second sweat test half year ago and it was 112 - and she has a mild cf.
<br />if you know one cf mutation you should ask for a genetic test most of all. You can also test yourselves for cf mutations.
<br />It's good you're testing for pancreas ability - if youd child needs it - the sooner the better.
<br />
<br />The only questions (I guess) would be what to do to help your child while waiting for test results and maybe to explain the numebers of the tests to you like what is "normal" and what is "cf". And what you should watch out for - symptoms - that should make you contact the cf center at once - and who to contact...
<br />Make sure the test results come our clear - if they are not - ask for more testing - different genetic test or simply repeating them later.
<br />Waiting for dx is the worst time of all....
<br />Good luck
 
R

Rebjane

Super Moderator
Are you going to a CF center to see this pulmonologist? You can check by going to www.cff.org the Cystic Fibrosis Foundation's website to know if it is a CF clinic, that is accredidated.

For someone to have CF you need to have two mutations for CF; one from the mother and one from the father. If you only have one mutation you are only a carrier and do not have CF. That being said; there are over 1500 identified CF mutations found in bloodwork. Most docs do not order a full comprehensive genetic panel of CF mutations because of the cost. I would ask how many mutations the test you child got looked for. For example, the blood test our family had only looked for the 97 most common CF mutations...Which my daughter has 2 of; she just has very typical mutations.

Do you have someone to go with you to the doc appointment? It is just helpful to absorb all the info. Write down your questions on a piece of paper so you don't forget, I often did this when we went to the doc; because I would get overwhelmed and would be sure to forget something.

has your child had other bloodwork? Vitamin levels? CXR? Does he have a cough? Have they done a sputum sample?

Good luck. I am sure others have more to add...
 
R

Rebjane

Super Moderator
Are you going to a CF center to see this pulmonologist? You can check by going to www.cff.org the Cystic Fibrosis Foundation's website to know if it is a CF clinic, that is accredidated.

For someone to have CF you need to have two mutations for CF; one from the mother and one from the father. If you only have one mutation you are only a carrier and do not have CF. That being said; there are over 1500 identified CF mutations found in bloodwork. Most docs do not order a full comprehensive genetic panel of CF mutations because of the cost. I would ask how many mutations the test you child got looked for. For example, the blood test our family had only looked for the 97 most common CF mutations...Which my daughter has 2 of; she just has very typical mutations.

Do you have someone to go with you to the doc appointment? It is just helpful to absorb all the info. Write down your questions on a piece of paper so you don't forget, I often did this when we went to the doc; because I would get overwhelmed and would be sure to forget something.

has your child had other bloodwork? Vitamin levels? CXR? Does he have a cough? Have they done a sputum sample?

Good luck. I am sure others have more to add...
 
R

Rebjane

Super Moderator
Are you going to a CF center to see this pulmonologist? You can check by going to www.cff.org the Cystic Fibrosis Foundation's website to know if it is a CF clinic, that is accredidated.
<br />
<br />For someone to have CF you need to have two mutations for CF; one from the mother and one from the father. If you only have one mutation you are only a carrier and do not have CF. That being said; there are over 1500 identified CF mutations found in bloodwork. Most docs do not order a full comprehensive genetic panel of CF mutations because of the cost. I would ask how many mutations the test you child got looked for. For example, the blood test our family had only looked for the 97 most common CF mutations...Which my daughter has 2 of; she just has very typical mutations.
<br />
<br />Do you have someone to go with you to the doc appointment? It is just helpful to absorb all the info. Write down your questions on a piece of paper so you don't forget, I often did this when we went to the doc; because I would get overwhelmed and would be sure to forget something.
<br />
<br />has your child had other bloodwork? Vitamin levels? CXR? Does he have a cough? Have they done a sputum sample?
<br />
<br />Good luck. I am sure others have more to add...
 
You must log in or register to reply here.
Top