Definitive CF Diagnosis

thinkpositive

New member
I am so sorry that your daughter was diagnosed with CF. However, our son - who is 18 now - and diagnosed at 10 - has been SOOOO much healthier since his diagnosis. Before that, we were at the doctor all the time. He missed alot of school. And since he has been diagnosed - he has only missed 2 days of school for cf related problems!! So I am so sorry about the diagnosis - but also thankful that you have some answers to her problems.

When he was diagnosed - they asked if we wanted to test our other two children. We did - of course - but we already knew that our youngest had it. Everything about her paralleled what her brother dealt with. Fortunately, our middle child is not even a carrier! We were fortunate to know which gene our oldest was affected by so our other two children just had to have a saliva test. I pray that your son is not affected by CF.

To answer your question about did it affect our decision to have more children --- I think that is one of the many blessings that has come from this - and that is if we had known about the dianosis - i do think we would have had one more child - however, i don't think we would have chosen to have our third child. So I am thankful that we did not find out sooner.

Having two children with CF has its positives and negatives. The positive is that neither of them feel "alone" in this journey. These two children are 9 years apart - and when our youngest is going through a tough time - our oldest is there to talk to her and help her through it. A response that i almost always hear from her when I try to tell her that doing her vest therapy and taking the medicines is so that she will stay healthy - she always tell me that i don't understand b/c i don't have CF. So having a sibling experience this with her helps tremendously. However, the negative is that sometimes I get tremendously overwhelmed at all that we do in regards to their CF therapies. But we always work through that.

I will be praying for you little boy and for you all and of course, your little girl.
 

heatherrose415

New member
Your case sounds alot like my sons.

what is pseudomonis?

My son is pancreatic insufficient and had a borderline sweat test and is getting tested for the genes now.

Is it normal for them to diagnose it without finding any mutations???
 

heatherrose415

New member
Your case sounds alot like my sons.

what is pseudomonis?

My son is pancreatic insufficient and had a borderline sweat test and is getting tested for the genes now.

Is it normal for them to diagnose it without finding any mutations???
 

heatherrose415

New member
Your case sounds alot like my sons.

what is pseudomonis?

My son is pancreatic insufficient and had a borderline sweat test and is getting tested for the genes now.

Is it normal for them to diagnose it without finding any mutations???
 

briellemom

New member
Thank you everyone for your responses.

Heatherrose -- Pseudomonas is a bacteria that is commonly found in the lungs of CF patients, it likes to live there, due to the extra mucus. If undiagnosed, it can turn into a nasty lung infection. It is diagnosed with a throat culture. Has your son had any throat cultures? How old is he? Is he on enzymes for his pancreas? In some cases it is normal for it to be diagnosed without finding any mutations...They usually need at least 2 symptoms to do this--a combination of a positive sweat test, pseudomonas, pancreatic insufficiency, etc. In our case it was the last 2. For the last 15 months Delaney was on their "we dont know what she has" list. But now that has changed--they are calling her CF. It just so happens that my husband and I have rare mutations that can as of yet not be identified. What type of panel is your son having? Delaneys took 3 months for the results and they still could not find anything. So we have accepted the fact that she has atypical CF and we will never know. This has proven difficult to explain to our families though. Good Luck...
 

briellemom

New member
Thank you everyone for your responses.

Heatherrose -- Pseudomonas is a bacteria that is commonly found in the lungs of CF patients, it likes to live there, due to the extra mucus. If undiagnosed, it can turn into a nasty lung infection. It is diagnosed with a throat culture. Has your son had any throat cultures? How old is he? Is he on enzymes for his pancreas? In some cases it is normal for it to be diagnosed without finding any mutations...They usually need at least 2 symptoms to do this--a combination of a positive sweat test, pseudomonas, pancreatic insufficiency, etc. In our case it was the last 2. For the last 15 months Delaney was on their "we dont know what she has" list. But now that has changed--they are calling her CF. It just so happens that my husband and I have rare mutations that can as of yet not be identified. What type of panel is your son having? Delaneys took 3 months for the results and they still could not find anything. So we have accepted the fact that she has atypical CF and we will never know. This has proven difficult to explain to our families though. Good Luck...
 

briellemom

New member
Thank you everyone for your responses.

Heatherrose -- Pseudomonas is a bacteria that is commonly found in the lungs of CF patients, it likes to live there, due to the extra mucus. If undiagnosed, it can turn into a nasty lung infection. It is diagnosed with a throat culture. Has your son had any throat cultures? How old is he? Is he on enzymes for his pancreas? In some cases it is normal for it to be diagnosed without finding any mutations...They usually need at least 2 symptoms to do this--a combination of a positive sweat test, pseudomonas, pancreatic insufficiency, etc. In our case it was the last 2. For the last 15 months Delaney was on their "we dont know what she has" list. But now that has changed--they are calling her CF. It just so happens that my husband and I have rare mutations that can as of yet not be identified. What type of panel is your son having? Delaneys took 3 months for the results and they still could not find anything. So we have accepted the fact that she has atypical CF and we will never know. This has proven difficult to explain to our families though. Good Luck...
 

heatherrose415

New member
yeah he is on enzymes with every meal. my dr. told us he can outgrow it???

he hasnt had a throat culture but if his testing comes back negative i might ask. he has a congested cough almost all the time but ive never focsed on it because ive been to focused on his FTT. hes so small he isnt even on the growth chart.

right now unfortanetly he is only getting the most common genes tested.

im sorry its been hard to explain to your family. i hope they understasnd
 

heatherrose415

New member
yeah he is on enzymes with every meal. my dr. told us he can outgrow it???

he hasnt had a throat culture but if his testing comes back negative i might ask. he has a congested cough almost all the time but ive never focsed on it because ive been to focused on his FTT. hes so small he isnt even on the growth chart.

right now unfortanetly he is only getting the most common genes tested.

im sorry its been hard to explain to your family. i hope they understasnd
 

heatherrose415

New member
yeah he is on enzymes with every meal. my dr. told us he can outgrow it???

he hasnt had a throat culture but if his testing comes back negative i might ask. he has a congested cough almost all the time but ive never focsed on it because ive been to focused on his FTT. hes so small he isnt even on the growth chart.

right now unfortanetly he is only getting the most common genes tested.

im sorry its been hard to explain to your family. i hope they understasnd
 
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