Wondering if someone could help me out?

[Lilliansmom]

I hope I am doing this right/posting in the right place. I was wondering if anyone had any insight into 2 of my kids. I have 4 - they are 7, 6, 4, and 4. My 6 year old was born 3 weeks early. She started losing weight right away, and always had very mucosy stools. She had 2 borderline and 1 negative sweat test, and was eventually diagnosed with pancreatic insufficiency, based on the amount of fat in her stools. She was on TPN for a year and a half, b/c she could not absorb any formula. She is still considered FTT - she weighs 38 pounds at 6. She is currently taking 2 capsules of pancrease MT 20 5 times a day, and eats well. This has really helped her gain.

Everyone just chalked her up to being strange, but when the twins were born DS started showing some of the same issues. He also ended up having high fat (40%) in his stool. He is taking 4 capsules of pancrease MT10 5 times a day as well, and he has gained about 7 pounds in the 5 months since starting it.

Their GI doc did the ambry test, and it came back with 1 mutation. He did decide to send them to see genetics, and genetics sent them to see a pulm. Both genetics and the pulm feel they have atypical CF, since neither one of them have much lung involvement. They both tend to get pnuemonia 4 or 5 times a year, and both need steroids to help them get over colds that my other 2 deal with fine, but that is it other than the FTT/pancreatic issues.

I always thought that you needed to have 2 mutations, and according to the ambry, my guys only have 1, so is it possible to get a dx with only one? And, does anyone know anything about atypical CF?

 

[Lilliansmom]

I hope I am doing this right/posting in the right place. I was wondering if anyone had any insight into 2 of my kids. I have 4 - they are 7, 6, 4, and 4. My 6 year old was born 3 weeks early. She started losing weight right away, and always had very mucosy stools. She had 2 borderline and 1 negative sweat test, and was eventually diagnosed with pancreatic insufficiency, based on the amount of fat in her stools. She was on TPN for a year and a half, b/c she could not absorb any formula. She is still considered FTT - she weighs 38 pounds at 6. She is currently taking 2 capsules of pancrease MT 20 5 times a day, and eats well. This has really helped her gain.

Everyone just chalked her up to being strange, but when the twins were born DS started showing some of the same issues. He also ended up having high fat (40%) in his stool. He is taking 4 capsules of pancrease MT10 5 times a day as well, and he has gained about 7 pounds in the 5 months since starting it.

Their GI doc did the ambry test, and it came back with 1 mutation. He did decide to send them to see genetics, and genetics sent them to see a pulm. Both genetics and the pulm feel they have atypical CF, since neither one of them have much lung involvement. They both tend to get pnuemonia 4 or 5 times a year, and both need steroids to help them get over colds that my other 2 deal with fine, but that is it other than the FTT/pancreatic issues.

I always thought that you needed to have 2 mutations, and according to the ambry, my guys only have 1, so is it possible to get a dx with only one? And, does anyone know anything about atypical CF?

 

[Lilliansmom]

I hope I am doing this right/posting in the right place. I was wondering if anyone had any insight into 2 of my kids. I have 4 - they are 7, 6, 4, and 4. My 6 year old was born 3 weeks early. She started losing weight right away, and always had very mucosy stools. She had 2 borderline and 1 negative sweat test, and was eventually diagnosed with pancreatic insufficiency, based on the amount of fat in her stools. She was on TPN for a year and a half, b/c she could not absorb any formula. She is still considered FTT - she weighs 38 pounds at 6. She is currently taking 2 capsules of pancrease MT 20 5 times a day, and eats well. This has really helped her gain.
<br />
<br />Everyone just chalked her up to being strange, but when the twins were born DS started showing some of the same issues. He also ended up having high fat (40%) in his stool. He is taking 4 capsules of pancrease MT10 5 times a day as well, and he has gained about 7 pounds in the 5 months since starting it.
<br />
<br />Their GI doc did the ambry test, and it came back with 1 mutation. He did decide to send them to see genetics, and genetics sent them to see a pulm. Both genetics and the pulm feel they have atypical CF, since neither one of them have much lung involvement. They both tend to get pnuemonia 4 or 5 times a year, and both need steroids to help them get over colds that my other 2 deal with fine, but that is it other than the FTT/pancreatic issues.
<br />
<br />I always thought that you needed to have 2 mutations, and according to the ambry, my guys only have 1, so is it possible to get a dx with only one? And, does anyone know anything about atypical CF?

 

[Ratatosk]

IMO pneumonia that many times a year DOES indicate lung involvement. Do you know how many mutations were tested for with Ambry? Did they do a basic test or more amplified?

IMO I would get a referral or go to an accreditted CF center and begin treating not just the digestive issues, but the issues with frequent Upper respiratory infections as well.

 

[Ratatosk]

IMO pneumonia that many times a year DOES indicate lung involvement. Do you know how many mutations were tested for with Ambry? Did they do a basic test or more amplified?

IMO I would get a referral or go to an accreditted CF center and begin treating not just the digestive issues, but the issues with frequent Upper respiratory infections as well.

 

[Ratatosk]

IMO pneumonia that many times a year DOES indicate lung involvement. Do you know how many mutations were tested for with Ambry? Did they do a basic test or more amplified?
<br />
<br />IMO I would get a referral or go to an accreditted CF center and begin treating not just the digestive issues, but the issues with frequent Upper respiratory infections as well.

 

[Mommafirst]

just a note on the enzymes. Do your kids take them 5 times a day or as needed with meals and snacks? Enzymes should be taken EVERY time the child eats. Maybe you just wrote this to say about how many times a day, but I was concerned that your GI gave you the wrong directions.

 

[Mommafirst]

just a note on the enzymes. Do your kids take them 5 times a day or as needed with meals and snacks? Enzymes should be taken EVERY time the child eats. Maybe you just wrote this to say about how many times a day, but I was concerned that your GI gave you the wrong directions.

 

[Mommafirst]

just a note on the enzymes. Do your kids take them 5 times a day or as needed with meals and snacks? Enzymes should be taken EVERY time the child eats. Maybe you just wrote this to say about how many times a day, but I was concerned that your GI gave you the wrong directions.

 

[Lilliansmom]

they take them 5X a day - breakfast, lunch, dinner, morning snack, and afternoon snack, although they both eat at other times as well, so I guess I should talk with the GI and see if we chould give them at those times as well.

Thanks.

 

[Lilliansmom]

they take them 5X a day - breakfast, lunch, dinner, morning snack, and afternoon snack, although they both eat at other times as well, so I guess I should talk with the GI and see if we chould give them at those times as well.

Thanks.

 

[Lilliansmom]

they take them 5X a day - breakfast, lunch, dinner, morning snack, and afternoon snack, although they both eat at other times as well, so I guess I should talk with the GI and see if we chould give them at those times as well.
<br />
<br />Thanks.

 

[Ratatosk]

Sounds like they may need more enzymes. DS' stools were always soft and tended to float, would leave a residue/ring around the toilet bowl. We upped his enzymes from 5 MT 10s to 7 for meals and 4-6 for snacks -- his snacks tend to be high calories and practically a meal.

Again, I'd also be concerned about the frequent infections. Are you doing any chest physiotherapy or nebs to keep the lungs clear?

 

[Ratatosk]

Sounds like they may need more enzymes. DS' stools were always soft and tended to float, would leave a residue/ring around the toilet bowl. We upped his enzymes from 5 MT 10s to 7 for meals and 4-6 for snacks -- his snacks tend to be high calories and practically a meal.

Again, I'd also be concerned about the frequent infections. Are you doing any chest physiotherapy or nebs to keep the lungs clear?

 

[Ratatosk]

Sounds like they may need more enzymes. DS' stools were always soft and tended to float, would leave a residue/ring around the toilet bowl. We upped his enzymes from 5 MT 10s to 7 for meals and 4-6 for snacks -- his snacks tend to be high calories and practically a meal.
<br />
<br />Again, I'd also be concerned about the frequent infections. Are you doing any chest physiotherapy or nebs to keep the lungs clear?