S1235R

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LouLou

New member
Kathy, When was the sweat test performed? I had Isaac's done again at age 2 because I heard they are more effective then. He scored the same as he did when he was 3 months old...an 11 on both arms. Was a 24 considered positive as a newborn - i can't remember the cut offs?
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<br />Yes, Isaac does not technically have a cf diagnosis because of his lack of positive sweat test, no symptoms, negative newborn screen, etc. etc. But we just keep that info behind closed doors though as we don't want insurance to balk at our choice to have him followed as if he has cf. He takes ADEKs (never showed malabsortpion probs but we figure it can't hurt), does Vest preventatively and goes on abx after 4 days of coughing with chest cold.
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<br />Does your gs culture anything? Isaac is MRSA positive in his throat. This is NOT presently on the list of cf symptoms of cf. Please keep us posted - perhaps in a seperate thread - about what gains for your dear sweet grand son come of having the CFMD diagnosis. IMHO it's just a cost preventative method of insurance codes to slap a DENIAL on charges that come through. Not what this momma with cf herself needs AT ALL! God knows I have enough paperwork to deal with already!
 
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Paige3

New member
Hi, just saw this thread. S1235R is the only known mutation my 16 year old ds has. He has moderate PI, asthma and allergies. We are trying to get him into a study for nasal potential difference testing as we were told this is the gold standard for atypical cf.

Two different cf dr.'s have recommended he not be officially diagnosed with cf, just treat issues as they come up. He recently had a double sweat test that was borderline and two singles that were positive. I "think" they are using the terms mild and atypical cf in the context that cf related disease and cf related metabolic disorder is being used on here.

Would like more information regarding this mutation also.
 
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Paige3

New member
Hi, just saw this thread. S1235R is the only known mutation my 16 year old ds has. He has moderate PI, asthma and allergies. We are trying to get him into a study for nasal potential difference testing as we were told this is the gold standard for atypical cf.

Two different cf dr.'s have recommended he not be officially diagnosed with cf, just treat issues as they come up. He recently had a double sweat test that was borderline and two singles that were positive. I "think" they are using the terms mild and atypical cf in the context that cf related disease and cf related metabolic disorder is being used on here.

Would like more information regarding this mutation also.
 
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Paige3

New member
Hi, just saw this thread. S1235R is the only known mutation my 16 year old ds has. He has moderate PI, asthma and allergies. We are trying to get him into a study for nasal potential difference testing as we were told this is the gold standard for atypical cf.
<br />
<br /> Two different cf dr.'s have recommended he not be officially diagnosed with cf, just treat issues as they come up. He recently had a double sweat test that was borderline and two singles that were positive. I "think" they are using the terms mild and atypical cf in the context that cf related disease and cf related metabolic disorder is being used on here.
<br />
<br />Would like more information regarding this mutation also.
 
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LouLou

New member
Paige, Malora's mom, Cheryl, is one of the only members on here with a child with S1235R that actively posts. It's good that you are with a cf clinic and that you are taking each sypmtom your ds has seriously as it relates to the greater picture of cf. Does your son possibly want to go join the forces (military, army, navy,police etc.)? This is definitely one reason to AVOID a diagnosis since it would disqualify him. In my son's case he doesn't have a cf diagnsosis persay becuase he doesn't fit the cf consortium definition but for all extents and purposes he still gets coded as a cf patient.

Yes, atypical and "mild" are thrown around on this site and with the less saavy cf centers (not saying yours is necessarily). For the last few years at the national cf conferences they have been using the CFMD term a lot more and moving away from the term atypical. Mild is a term of level of progression not of type of disease manifestation. Mild is >70% FEV1, Moderate 40-70% and Severe <40%. Most of us are mild for a long time - some longer than others.... :-( Atypical usually refers to a specific combo of mutations that result in non-class cf expression. The thing is that this is a progressive disease though so it can give people false hope. For that reason they aren't using the term atypical as much because as one doctor said to me recently after attending a conference. "The more we learn about cf, the more we realize we don't know about cf." Finally it is important to note that mutations do not dictate our prognosis. While many with S1235R are doing very well. Others do have more classic symptoms. Luckily for my son his other mutation is from me and is G551D. With any luck he will be getting Vertex 770 in a few years and we'll never have to know whether the ugly monster would have risen in him.
 
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LouLou

New member
Paige, Malora's mom, Cheryl, is one of the only members on here with a child with S1235R that actively posts. It's good that you are with a cf clinic and that you are taking each sypmtom your ds has seriously as it relates to the greater picture of cf. Does your son possibly want to go join the forces (military, army, navy,police etc.)? This is definitely one reason to AVOID a diagnosis since it would disqualify him. In my son's case he doesn't have a cf diagnsosis persay becuase he doesn't fit the cf consortium definition but for all extents and purposes he still gets coded as a cf patient.

Yes, atypical and "mild" are thrown around on this site and with the less saavy cf centers (not saying yours is necessarily). For the last few years at the national cf conferences they have been using the CFMD term a lot more and moving away from the term atypical. Mild is a term of level of progression not of type of disease manifestation. Mild is >70% FEV1, Moderate 40-70% and Severe <40%. Most of us are mild for a long time - some longer than others.... :-( Atypical usually refers to a specific combo of mutations that result in non-class cf expression. The thing is that this is a progressive disease though so it can give people false hope. For that reason they aren't using the term atypical as much because as one doctor said to me recently after attending a conference. "The more we learn about cf, the more we realize we don't know about cf." Finally it is important to note that mutations do not dictate our prognosis. While many with S1235R are doing very well. Others do have more classic symptoms. Luckily for my son his other mutation is from me and is G551D. With any luck he will be getting Vertex 770 in a few years and we'll never have to know whether the ugly monster would have risen in him.
 
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LouLou

New member
Paige, Malora's mom, Cheryl, is one of the only members on here with a child with S1235R that actively posts. It's good that you are with a cf clinic and that you are taking each sypmtom your ds has seriously as it relates to the greater picture of cf. Does your son possibly want to go join the forces (military, army, navy,police etc.)? This is definitely one reason to AVOID a diagnosis since it would disqualify him. In my son's case he doesn't have a cf diagnsosis persay becuase he doesn't fit the cf consortium definition but for all extents and purposes he still gets coded as a cf patient.
<br />
<br />Yes, atypical and "mild" are thrown around on this site and with the less saavy cf centers (not saying yours is necessarily). For the last few years at the national cf conferences they have been using the CFMD term a lot more and moving away from the term atypical. Mild is a term of level of progression not of type of disease manifestation. Mild is >70% FEV1, Moderate 40-70% and Severe <40%. Most of us are mild for a long time - some longer than others.... :-( Atypical usually refers to a specific combo of mutations that result in non-class cf expression. The thing is that this is a progressive disease though so it can give people false hope. For that reason they aren't using the term atypical as much because as one doctor said to me recently after attending a conference. "The more we learn about cf, the more we realize we don't know about cf." Finally it is important to note that mutations do not dictate our prognosis. While many with S1235R are doing very well. Others do have more classic symptoms. Luckily for my son his other mutation is from me and is G551D. With any luck he will be getting Vertex 770 in a few years and we'll never have to know whether the ugly monster would have risen in him.
 
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Paige3

New member
The Dr. who recommended not getting a cf diagnoses gave the reasons of impact on health and life insurance and impact on family and employment.

The Dr. who suggested having the nasal potential difference test said that if it is positive there would be some things such as the military that he would need to avoid. We just want to know as much as possible so we can get the best treatment for him. Hope to get this test done soon.

His lung function has been around 85 for over ten years so I guess this is a good sign. Thanks for the info about CFMD and atypical, mild etc.
 
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Paige3

New member
The Dr. who recommended not getting a cf diagnoses gave the reasons of impact on health and life insurance and impact on family and employment.

The Dr. who suggested having the nasal potential difference test said that if it is positive there would be some things such as the military that he would need to avoid. We just want to know as much as possible so we can get the best treatment for him. Hope to get this test done soon.

His lung function has been around 85 for over ten years so I guess this is a good sign. Thanks for the info about CFMD and atypical, mild etc.
 
P

Paige3

New member
The Dr. who recommended not getting a cf diagnoses gave the reasons of impact on health and life insurance and impact on family and employment.
<br />
<br />The Dr. who suggested having the nasal potential difference test said that if it is positive there would be some things such as the military that he would need to avoid. We just want to know as much as possible so we can get the best treatment for him. Hope to get this test done soon.
<br />
<br />His lung function has been around 85 for over ten years so I guess this is a good sign. Thanks for the info about CFMD and atypical, mild etc.
 
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frankmeloah

Guest
My son is 7 years old and has the genes S1235R and G543X. He was born with Meconium Ileus and pancreatic deficiency. So far no accumulation of mucus in lungs. I pray 3 times a day for God to bring us the cure for CF speedily in our days. I was told once it is just a matter of time until it starts affecting the lungs. But I was also told that with the pipeline of drugs we have today, we can expect young children to live full lives, generally speaking.

If the average CF patient life is 37 years, I think it is reasonable that in the next 30 years, life will be extended much further out. During this time, we may see Gene Therapy working out, as well as stem cell products among other possible cures.

I also hope Messiah will be here by then, which will then be the end of all diseases and problems in the world.

Frank
 
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frankmeloah

Guest
My son is 7 years old and has the genes S1235R and G543X. He was born with Meconium Ileus and pancreatic deficiency. So far no accumulation of mucus in lungs. I pray 3 times a day for God to bring us the cure for CF speedily in our days. I was told once it is just a matter of time until it starts affecting the lungs. But I was also told that with the pipeline of drugs we have today, we can expect young children to live full lives, generally speaking.

If the average CF patient life is 37 years, I think it is reasonable that in the next 30 years, life will be extended much further out. During this time, we may see Gene Therapy working out, as well as stem cell products among other possible cures.

I also hope Messiah will be here by then, which will then be the end of all diseases and problems in the world.

Frank
 
F

frankmeloah

Guest
My son is 7 years old and has the genes S1235R and G543X. He was born with Meconium Ileus and pancreatic deficiency. So far no accumulation of mucus in lungs. I pray 3 times a day for God to bring us the cure for CF speedily in our days. I was told once it is just a matter of time until it starts affecting the lungs. But I was also told that with the pipeline of drugs we have today, we can expect young children to live full lives, generally speaking.
<br />
<br />If the average CF patient life is 37 years, I think it is reasonable that in the next 30 years, life will be extended much further out. During this time, we may see Gene Therapy working out, as well as stem cell products among other possible cures.
<br />
<br />I also hope Messiah will be here by then, which will then be the end of all diseases and problems in the world.
<br />
<br />Frank
 
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