Anyone with single mutation w/CF symptoms?

[fkewatson]

Hi - Within the past two weeks we discoved my 4 year old son has a single deltaF508 deletion. Yesterday the full Ambry genetics data came back showing no other deletions/mutations, thank God! However, he is malabsorbing fats and fat soluble vitamins. Pancreatic enzymes are helping, indicating pancreatic involvement.

He had a normal sweat test and stool for elastase test was normal.

Is there anyone else on this forum with a similar situation of a single deletion/mutation who has CF symptoms? My son's most critical symptoms are of Vitamin E deficiency-induced sensory disorganization and essential fatty acid deficiency-induced motor planning problems (apraxia).

I guess there is still a possibility that his carrier status is incidental to the apparent pancreatic insufficiency, but I doubt it.

 

[fkewatson]

Hi - Within the past two weeks we discoved my 4 year old son has a single deltaF508 deletion. Yesterday the full Ambry genetics data came back showing no other deletions/mutations, thank God! However, he is malabsorbing fats and fat soluble vitamins. Pancreatic enzymes are helping, indicating pancreatic involvement.

He had a normal sweat test and stool for elastase test was normal.

Is there anyone else on this forum with a similar situation of a single deletion/mutation who has CF symptoms? My son's most critical symptoms are of Vitamin E deficiency-induced sensory disorganization and essential fatty acid deficiency-induced motor planning problems (apraxia).

I guess there is still a possibility that his carrier status is incidental to the apparent pancreatic insufficiency, but I doubt it.

 

[fkewatson]

Hi - Within the past two weeks we discoved my 4 year old son has a single deltaF508 deletion. Yesterday the full Ambry genetics data came back showing no other deletions/mutations, thank God! However, he is malabsorbing fats and fat soluble vitamins. Pancreatic enzymes are helping, indicating pancreatic involvement.

He had a normal sweat test and stool for elastase test was normal.

Is there anyone else on this forum with a similar situation of a single deletion/mutation who has CF symptoms? My son's most critical symptoms are of Vitamin E deficiency-induced sensory disorganization and essential fatty acid deficiency-induced motor planning problems (apraxia).

I guess there is still a possibility that his carrier status is incidental to the apparent pancreatic insufficiency, but I doubt it.

 

[fkewatson]

Hi - Within the past two weeks we discoved my 4 year old son has a single deltaF508 deletion. Yesterday the full Ambry genetics data came back showing no other deletions/mutations, thank God! However, he is malabsorbing fats and fat soluble vitamins. Pancreatic enzymes are helping, indicating pancreatic involvement.

He had a normal sweat test and stool for elastase test was normal.

Is there anyone else on this forum with a similar situation of a single deletion/mutation who has CF symptoms? My son's most critical symptoms are of Vitamin E deficiency-induced sensory disorganization and essential fatty acid deficiency-induced motor planning problems (apraxia).

I guess there is still a possibility that his carrier status is incidental to the apparent pancreatic insufficiency, but I doubt it.

 

[fkewatson]

Hi - Within the past two weeks we discoved my 4 year old son has a single deltaF508 deletion. Yesterday the full Ambry genetics data came back showing no other deletions/mutations, thank God! However, he is malabsorbing fats and fat soluble vitamins. Pancreatic enzymes are helping, indicating pancreatic involvement.

He had a normal sweat test and stool for elastase test was normal.

Is there anyone else on this forum with a similar situation of a single deletion/mutation who has CF symptoms? My son's most critical symptoms are of Vitamin E deficiency-induced sensory disorganization and essential fatty acid deficiency-induced motor planning problems (apraxia).

I guess there is still a possibility that his carrier status is incidental to the apparent pancreatic insufficiency, but I doubt it.

 

[fkewatson]

Hi - Within the past two weeks we discoved my 4 year old son has a single deltaF508 deletion. Yesterday the full Ambry genetics data came back showing no other deletions/mutations, thank God! However, he is malabsorbing fats and fat soluble vitamins. Pancreatic enzymes are helping, indicating pancreatic involvement.

He had a normal sweat test and stool for elastase test was normal.

Is there anyone else on this forum with a similar situation of a single deletion/mutation who has CF symptoms? My son's most critical symptoms are of Vitamin E deficiency-induced sensory disorganization and essential fatty acid deficiency-induced motor planning problems (apraxia).

I guess there is still a possibility that his carrier status is incidental to the apparent pancreatic insufficiency, but I doubt it.

 

[NoExcuses]

CF carriers do sometimes have symptoms.

A ton of young, healthy, fit women in my family have gallbladder issues.

And asthma/horrible sinus issues run on my other side exist.

It's definately something that happens from time to time....

 

[NoExcuses]

CF carriers do sometimes have symptoms.

A ton of young, healthy, fit women in my family have gallbladder issues.

And asthma/horrible sinus issues run on my other side exist.

It's definately something that happens from time to time....

 

[NoExcuses]

CF carriers do sometimes have symptoms.

A ton of young, healthy, fit women in my family have gallbladder issues.

And asthma/horrible sinus issues run on my other side exist.

It's definately something that happens from time to time....

 

[NoExcuses]

CF carriers do sometimes have symptoms.

A ton of young, healthy, fit women in my family have gallbladder issues.

And asthma/horrible sinus issues run on my other side exist.

It's definately something that happens from time to time....

 

[NoExcuses]

CF carriers do sometimes have symptoms.

A ton of young, healthy, fit women in my family have gallbladder issues.

And asthma/horrible sinus issues run on my other side exist.

It's definately something that happens from time to time....

 

[NoExcuses]

CF carriers do sometimes have symptoms.

A ton of young, healthy, fit women in my family have gallbladder issues.

And asthma/horrible sinus issues run on my other side exist.

It's definately something that happens from time to time....

 

[janddburke]

my daugher w/o CF has some pretty serious allergies which trigger her asthma.
funnily, my CFer has no allergies or asthmatic symptoms.

lots of asthma, allergies, cronic broncitis and gall bladder problems on hubbys side of the family. the side of the family where no one wanted to be tested? yeah.

makes one wonder, eh?

I do have a niece who just got engaged. I told her mother when she is ready, we have the data she might need, but she should DEFINETLY get tested. no one is intereseted.

--Debbie.

 

[janddburke]

my daugher w/o CF has some pretty serious allergies which trigger her asthma.
funnily, my CFer has no allergies or asthmatic symptoms.

lots of asthma, allergies, cronic broncitis and gall bladder problems on hubbys side of the family. the side of the family where no one wanted to be tested? yeah.

makes one wonder, eh?

I do have a niece who just got engaged. I told her mother when she is ready, we have the data she might need, but she should DEFINETLY get tested. no one is intereseted.

--Debbie.

 

[janddburke]

my daugher w/o CF has some pretty serious allergies which trigger her asthma.
funnily, my CFer has no allergies or asthmatic symptoms.

lots of asthma, allergies, cronic broncitis and gall bladder problems on hubbys side of the family. the side of the family where no one wanted to be tested? yeah.

makes one wonder, eh?

I do have a niece who just got engaged. I told her mother when she is ready, we have the data she might need, but she should DEFINETLY get tested. no one is intereseted.

--Debbie.

 

[janddburke]

my daugher w/o CF has some pretty serious allergies which trigger her asthma.
funnily, my CFer has no allergies or asthmatic symptoms.

lots of asthma, allergies, cronic broncitis and gall bladder problems on hubbys side of the family. the side of the family where no one wanted to be tested? yeah.

makes one wonder, eh?

I do have a niece who just got engaged. I told her mother when she is ready, we have the data she might need, but she should DEFINETLY get tested. no one is intereseted.

--Debbie.

 

[janddburke]

my daugher w/o CF has some pretty serious allergies which trigger her asthma.
funnily, my CFer has no allergies or asthmatic symptoms.

lots of asthma, allergies, cronic broncitis and gall bladder problems on hubbys side of the family. the side of the family where no one wanted to be tested? yeah.

makes one wonder, eh?

I do have a niece who just got engaged. I told her mother when she is ready, we have the data she might need, but she should DEFINETLY get tested. no one is intereseted.

--Debbie.

 

[janddburke]

my daugher w/o CF has some pretty serious allergies which trigger her asthma.
funnily, my CFer has no allergies or asthmatic symptoms.

lots of asthma, allergies, cronic broncitis and gall bladder problems on hubbys side of the family. the side of the family where no one wanted to be tested? yeah.

makes one wonder, eh?

I do have a niece who just got engaged. I told her mother when she is ready, we have the data she might need, but she should DEFINETLY get tested. no one is intereseted.

--Debbie.

 

[Sakem]

There is no confirmed data to show that carriers have CF symptoms, but I personally think it is possible to a some extent, more on the asthma spectrum. I would push your doc to explore other diseases...if pancreatic problems are the only issue, and the full panel genetic test was conclusive that there is only one gene, then I think it is something other the CF, and something a GI doc should be able to discover

 

[Sakem]

There is no confirmed data to show that carriers have CF symptoms, but I personally think it is possible to a some extent, more on the asthma spectrum. I would push your doc to explore other diseases...if pancreatic problems are the only issue, and the full panel genetic test was conclusive that there is only one gene, then I think it is something other the CF, and something a GI doc should be able to discover