in reference to urgent message to worried grandma and candi81

[b12bc]

I apologize if this was already answered, but are you receiving care (or lack of it) from a CF clinic? Perhaps it is time to look for new doctors who are willing to treat your son for what (in my mind) is clearly CF so that he WILL stay healthy and symptom-free for as long as possible.

I was almost entirely symptom-free until my early teenage years. I was pancreatic sufficient, never had anything worse than a cold, had PFTs over 100%, no sinus issues or digestive issues or anything else associated with CF. The only reason I was tested/diagnosed (with a positive sweat test and 1 mutation at the time, since then the second has been found) is because my sister also had CF.

 

[b12bc]

I apologize if this was already answered, but are you receiving care (or lack of it) from a CF clinic? Perhaps it is time to look for new doctors who are willing to treat your son for what (in my mind) is clearly CF so that he WILL stay healthy and symptom-free for as long as possible.
<br />
<br />I was almost entirely symptom-free until my early teenage years. I was pancreatic sufficient, never had anything worse than a cold, had PFTs over 100%, no sinus issues or digestive issues or anything else associated with CF. The only reason I was tested/diagnosed (with a positive sweat test and 1 mutation at the time, since then the second has been found) is because my sister also had CF.

 

[hmw]

If you check my highlighted link: Hopkins is a very reputable, accredited CF center. According to our center, they take an interest in rare mutation cases. This was a research study they carried out several years ago re. rare mutations and so-called nonclassic presentations of CF. The site hasn't been updated in some time so I imagine there are more individuals who could be added to this list. But this center and any study they were/are involved in would be quite reputable.

Another article mentions this mutation and describes it as a mild disease causing mutation when paired with one like the df508. <a target=_blank class=ftalternatingbarlinklarge href="http://molehr.oxfordjournals.org/content/6/12/1063.long">Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations </a> Now, whether or not a mutation will always be 'mild' when they claim it will be is up for debate, but it's still an important distinction here that they are calling it a mutation (capable of causing disease) and not a 'polymorphism' (benign/non-disease causing.)

 

[hmw]

If you check my highlighted link: Hopkins is a very reputable, accredited CF center. According to our center, they take an interest in rare mutation cases. This was a research study they carried out several years ago re. rare mutations and so-called nonclassic presentations of CF. The site hasn't been updated in some time so I imagine there are more individuals who could be added to this list. But this center and any study they were/are involved in would be quite reputable.

Another article mentions this mutation and describes it as a mild disease causing mutation when paired with one like the df508. <a target=_blank class=ftalternatingbarlinklarge href="http://molehr.oxfordjournals.org/content/6/12/1063.long">Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations </a> Now, whether or not a mutation will always be 'mild' when they claim it will be is up for debate, but it's still an important distinction here that they are calling it a mutation (capable of causing disease) and not a 'polymorphism' (benign/non-disease causing.)

 

[hmw]

If you check my highlighted link: Hopkins is a very reputable, accredited CF center. According to our center, they take an interest in rare mutation cases. This was a research study they carried out several years ago re. rare mutations and so-called nonclassic presentations of CF. The site hasn't been updated in some time so I imagine there are more individuals who could be added to this list. But this center and any study they were/are involved in would be quite reputable.
<br />
<br />Another article mentions this mutation and describes it as a mild disease causing mutation when paired with one like the df508. <a target=_blank class=ftalternatingbarlinklarge href="http://molehr.oxfordjournals.org/content/6/12/1063.long">Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations </a> Now, whether or not a mutation will always be 'mild' when they claim it will be is up for debate, but it's still an important distinction here that they are calling it a mutation (capable of causing disease) and not a 'polymorphism' (benign/non-disease causing.)

 

[katzyloo]

my son is still receiving care at a clinic. i have just spoke to one of the nurses and apparently ive to expect a letter in the post in a few days from our consultant who has sumarised our situation. i asked if they were discharged my son and they said no, however they are planning to start a serpate clinic for children who have rare mutations.
although he is not classed as cf/ or atypical the nurse said ive to continue physio once a day but i can stop sodium.
thank you hmw, that is an interesting point in regards to refering to my son as having mutations, as the nurse keep explaining things will be happening (new clinic format, explaining why to do physio) as he has a rare mutation, yet they are still saying he doesnt have cf or atypical.
iam worried about how to explain this to my son as he gets older as to why he is going to a clinic but doesnt have the disease. plus the consultant said we will discuss school options and have to consider cross infection, which i dont understand if he doesnt have it.
my feeling is that he will describe my son as having a cftr variant in this letter im expecting, which i dont know what to take from that.

 

[katzyloo]

my son is still receiving care at a clinic. i have just spoke to one of the nurses and apparently ive to expect a letter in the post in a few days from our consultant who has sumarised our situation. i asked if they were discharged my son and they said no, however they are planning to start a serpate clinic for children who have rare mutations.
although he is not classed as cf/ or atypical the nurse said ive to continue physio once a day but i can stop sodium.
thank you hmw, that is an interesting point in regards to refering to my son as having mutations, as the nurse keep explaining things will be happening (new clinic format, explaining why to do physio) as he has a rare mutation, yet they are still saying he doesnt have cf or atypical.
iam worried about how to explain this to my son as he gets older as to why he is going to a clinic but doesnt have the disease. plus the consultant said we will discuss school options and have to consider cross infection, which i dont understand if he doesnt have it.
my feeling is that he will describe my son as having a cftr variant in this letter im expecting, which i dont know what to take from that.

 

[katzyloo]

my son is still receiving care at a clinic. i have just spoke to one of the nurses and apparently ive to expect a letter in the post in a few days from our consultant who has sumarised our situation. i asked if they were discharged my son and they said no, however they are planning to start a serpate clinic for children who have rare mutations.
<br />although he is not classed as cf/ or atypical the nurse said ive to continue physio once a day but i can stop sodium.
<br />thank you hmw, that is an interesting point in regards to refering to my son as having mutations, as the nurse keep explaining things will be happening (new clinic format, explaining why to do physio) as he has a rare mutation, yet they are still saying he doesnt have cf or atypical.
<br />iam worried about how to explain this to my son as he gets older as to why he is going to a clinic but doesnt have the disease. plus the consultant said we will discuss school options and have to consider cross infection, which i dont understand if he doesnt have it.
<br />my feeling is that he will describe my son as having a cftr variant in this letter im expecting, which i dont know what to take from that.

 

[candi81]

My son does have the same exact mutations and so far he has been very healthy. He will be 17 months old next week, and to this date hasn't had the first problem with mucus. He also tested as being pancreatic sufficient. He does have chronic constipation and has to have Miralax twice daily.

On the printout from Ambry genetics for Drew's second mutation, it said that it was "Known to produce a lack of vas defrens in men, and mild pulmonary symptoms." They do consider it a CF mutation though.

I agree that 6 months is a little too early to stop treatment. Even though my son has no mucus, he still cultured pseudomonas back in the summer, which we got rid of with Tobi, but had we not continued to go to the clinic appointments, we would have missed this. I would push for a second opinion before you decided to stop treatment altogether. I've seen MANY people change clinics because they weren't comfortable with what their current one was telling them. Trust your instinct.

 

[candi81]

My son does have the same exact mutations and so far he has been very healthy. He will be 17 months old next week, and to this date hasn't had the first problem with mucus. He also tested as being pancreatic sufficient. He does have chronic constipation and has to have Miralax twice daily.

On the printout from Ambry genetics for Drew's second mutation, it said that it was "Known to produce a lack of vas defrens in men, and mild pulmonary symptoms." They do consider it a CF mutation though.

I agree that 6 months is a little too early to stop treatment. Even though my son has no mucus, he still cultured pseudomonas back in the summer, which we got rid of with Tobi, but had we not continued to go to the clinic appointments, we would have missed this. I would push for a second opinion before you decided to stop treatment altogether. I've seen MANY people change clinics because they weren't comfortable with what their current one was telling them. Trust your instinct.

 

[candi81]

My son does have the same exact mutations and so far he has been very healthy. He will be 17 months old next week, and to this date hasn't had the first problem with mucus. He also tested as being pancreatic sufficient. He does have chronic constipation and has to have Miralax twice daily.
<br />
<br />On the printout from Ambry genetics for Drew's second mutation, it said that it was "Known to produce a lack of vas defrens in men, and mild pulmonary symptoms." They do consider it a CF mutation though.
<br />
<br />I agree that 6 months is a little too early to stop treatment. Even though my son has no mucus, he still cultured pseudomonas back in the summer, which we got rid of with Tobi, but had we not continued to go to the clinic appointments, we would have missed this. I would push for a second opinion before you decided to stop treatment altogether. I've seen MANY people change clinics because they weren't comfortable with what their current one was telling them. Trust your instinct.

 

[hmw]

Culturing pseudomonas is very much diagnostic for cystic fibrosis- it is very, very fortunate that this was caught and treated. Those without respiratory disease like CF (or severely ill and in the hospital on a vent) simply do not culture this- in many cases, a culture positive for PA is a major diagnostic factor when trying to determine if someone has CF that hasn't been found to have two identifiable mutations.

This is strong evidence that this mutation is indeed disease-causing. (As also acknowledged on the Ambry results.)

 

[hmw]

Culturing pseudomonas is very much diagnostic for cystic fibrosis- it is very, very fortunate that this was caught and treated. Those without respiratory disease like CF (or severely ill and in the hospital on a vent) simply do not culture this- in many cases, a culture positive for PA is a major diagnostic factor when trying to determine if someone has CF that hasn't been found to have two identifiable mutations.

This is strong evidence that this mutation is indeed disease-causing. (As also acknowledged on the Ambry results.)

 

[hmw]

Culturing pseudomonas is very much diagnostic for cystic fibrosis- it is very, very fortunate that this was caught and treated. Those without respiratory disease like CF (or severely ill and in the hospital on a vent) simply do not culture this- in many cases, a culture positive for PA is a major diagnostic factor when trying to determine if someone has CF that hasn't been found to have two identifiable mutations.
<br />
<br />This is strong evidence that this mutation is indeed disease-causing. (As also acknowledged on the Ambry results.)