<br>I am looking for some sort of support. I am hoping I have come to the right place. I have an 8 year old boy. Braunson got sick when he was 3 mo old. He has had a dx of celiac at 20 mo old, immune diffency at the age of 6mo, failure to thrive at the age of 4 mo old, gastroperisis at the age of 15 mo old, and at the age of 6 and 1/2 he was diagnosis with a moderate pancreatic defeciency. We have been to dr all over the country. We live in a very small town in Kansas (about 600 people). When Braunson was 3 mo old he weighed 13 lbs by the age of 12 mo old he weighed only 16lbs and today at the age of almost 9 he weighs a whole whooping 60 lbs. When he was a baby we started to see an Allergist/ Immunoligist and had done all he could he sent us to Atlanta Georgia to see a specialist out there. And everyone we went to said I think he has CF and they would do the test and say nope he doesnt have CF. We would go on and he has had 4 different dr think he has CF and they are absolutely shocked that everytime it comes back negative. So I guess you are all thinking why am I on this website. But when Braunson was 6 and 1/2 we were seeing an endrocronoligist for growth because he had not grown in2 years again. And after following him the dr said that she wanted him to back to GI because she thought there something GI going on. So we went back for the 3rd time (because every dr said the same thing "its GI related"). He said I will do every test just to prove that he only had celiac and be done with it. The very last test was a stool sample and yes it came back that the had a moderate pancreatic insufficency. So I thought great we finally have a dx that we can work with and hopefully the nightmare will be over. All went well for a while, he started to grow. He grew 5 inches and gained 10 lbs in lesss than a month and he was able to finally take oral antibiotics for the first time in his life (before they made him vomit adn have severe diahrea). He had a port a cath for 5 years to deliver meds when ever he was sick. Which was all the time. He always had ton of mucus in the lungs, in the sinuses, and down the back of the throat. We live on breathing TX for the first 2 years of life. And about a year ago Braunson all of a sudden started having trouble taking and swollowing his pills. I took him in and they said to increase the Creon and see what happened. Within 1 week was back to taking pills with no problem. He was feeling better and the mucus was back under control. So then about a month ago he started to have problems again. So we increased his meds again but this time it is not working. He cant swollow the meds and he said that they get caught in the snot on the back of his throat. He is now on his 2nd round of antibiotics for a sinus infection. He is having increased pain in his stomache. Can anyone tell me is this normal and what can I do to help him. It breaks my heart to see him cry because he doesnt want to take his medicine because it takes to long to do so. Therefore he doesnt want to eat and then he starts to lose weight. His immune system goes down because of the pancreasis not working and his blood sugar is throught the roof half the time. Please tell what to do or if I am doing something wrong. Thank and May God bless you all.
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- Thread starter Braunson
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<br>I am looking for some sort of support. I am hoping I have come to the right place. I have an 8 year old boy. Braunson got sick when he was 3 mo old. He has had a dx of celiac at 20 mo old, immune diffency at the age of 6mo, failure to thrive at the age of 4 mo old, gastroperisis at the age of 15 mo old, and at the age of 6 and 1/2 he was diagnosis with a moderate pancreatic defeciency. We have been to dr all over the country. We live in a very small town in Kansas (about 600 people). When Braunson was 3 mo old he weighed 13 lbs by the age of 12 mo old he weighed only 16lbs and today at the age of almost 9 he weighs a whole whooping 60 lbs. When he was a baby we started to see an Allergist/ Immunoligist and had done all he could he sent us to Atlanta Georgia to see a specialist out there. And everyone we went to said I think he has CF and they would do the test and say nope he doesnt have CF. We would go on and he has had 4 different dr think he has CF and they are absolutely shocked that everytime it comes back negative. So I guess you are all thinking why am I on this website. But when Braunson was 6 and 1/2 we were seeing an endrocronoligist for growth because he had not grown in2 years again. And after following him the dr said that she wanted him to back to GI because she thought there something GI going on. So we went back for the 3rd time (because every dr said the same thing "its GI related"). He said I will do every test just to prove that he only had celiac and be done with it. The very last test was a stool sample and yes it came back that the had a moderate pancreatic insufficency. So I thought great we finally have a dx that we can work with and hopefully the nightmare will be over. All went well for a while, he started to grow. He grew 5 inches and gained 10 lbs in lesss than a month and he was able to finally take oral antibiotics for the first time in his life (before they made him vomit adn have severe diahrea). He had a port a cath for 5 years to deliver meds when ever he was sick. Which was all the time. He always had ton of mucus in the lungs, in the sinuses, and down the back of the throat. We live on breathing TX for the first 2 years of life. And about a year ago Braunson all of a sudden started having trouble taking and swollowing his pills. I took him in and they said to increase the Creon and see what happened. Within 1 week was back to taking pills with no problem. He was feeling better and the mucus was back under control. So then about a month ago he started to have problems again. So we increased his meds again but this time it is not working. He cant swollow the meds and he said that they get caught in the snot on the back of his throat. He is now on his 2nd round of antibiotics for a sinus infection. He is having increased pain in his stomache. Can anyone tell me is this normal and what can I do to help him. It breaks my heart to see him cry because he doesnt want to take his medicine because it takes to long to do so. Therefore he doesnt want to eat and then he starts to lose weight. His immune system goes down because of the pancreasis not working and his blood sugar is throught the roof half the time. Please tell what to do or if I am doing something wrong. Thank and May God bless you all.
I guess I should mention he has never been formally diagnosis with CF. I was told that there is over 800 different type of CF and they can only test for 600 or so different type. The dr seems to think he has a very rare form or CF. (one of the 200 they cant test for). But 99% of kids with this pancreatic disorder have CF. That is why they say that.
I guess I should mention he has never been formally diagnosis with CF. I was told that there is over 800 different type of CF and they can only test for 600 or so different type. The dr seems to think he has a very rare form or CF. (one of the 200 they cant test for). But 99% of kids with this pancreatic disorder have CF. That is why they say that.
Clearly your Doctor is not a CF Specialist and the info that he/she is giving you is VERY out of date. There are almost 1900 known mutations and they can all be tested. In 1963 I was tested and the range was only 250 mutations. I was recently retested and the range is now close to 1900.
You need to get your son to an APPROVED CF CENTER ASAP. At the top right of this page you will find "FIND A CF CENTER" click onto that and find the Center near you.
Don't wait, he needs help right away.
Bill
You need to get your son to an APPROVED CF CENTER ASAP. At the top right of this page you will find "FIND A CF CENTER" click onto that and find the Center near you.
Don't wait, he needs help right away.
Bill
Clearly your Doctor is not a CF Specialist and the info that he/she is giving you is VERY out of date. There are almost 1900 known mutations and they can all be tested. In 1963 I was tested and the range was only 250 mutations. I was recently retested and the range is now close to 1900.
You need to get your son to an APPROVED CF CENTER ASAP. At the top right of this page you will find "FIND A CF CENTER" click onto that and find the Center near you.
Don't wait, he needs help right away.
Bill
You need to get your son to an APPROVED CF CENTER ASAP. At the top right of this page you will find "FIND A CF CENTER" click onto that and find the Center near you.
Don't wait, he needs help right away.
Bill
CrisDopher
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Printer</b></i>
Clearly your Doctor is not a CF Specialist and the info that he/she is giving you is VERY out of date. There are almost 1900 known mutations and they can all be tested. In 1963 I was tested and the range was only 250 mutations. I was recently retested and the range is now close to 1900. </end quote><br><br>That's interesting, Bill, but I think your dates need adjusting. The CF gene wasn't even discovered until 1988, when DF508 was identified. There was no widely available genetic testing until the mid-90's.<br><br>The only sources I've found on number of mutations just say "over 1000", so I agree that we've identified more than 800, but I haven't read 1900 anywhere.<br><br><div class="FTQUOTE"><begin quote> You need to get your son to an APPROVED CF CENTER ASAP. At the top right of this page you will find "FIND A CF CENTER" click onto that and find the Center near you.
Don't wait, he needs help right away.
Bill</end quote><br><br>This I completely agree with. <br>
Clearly your Doctor is not a CF Specialist and the info that he/she is giving you is VERY out of date. There are almost 1900 known mutations and they can all be tested. In 1963 I was tested and the range was only 250 mutations. I was recently retested and the range is now close to 1900. </end quote><br><br>That's interesting, Bill, but I think your dates need adjusting. The CF gene wasn't even discovered until 1988, when DF508 was identified. There was no widely available genetic testing until the mid-90's.<br><br>The only sources I've found on number of mutations just say "over 1000", so I agree that we've identified more than 800, but I haven't read 1900 anywhere.<br><br><div class="FTQUOTE"><begin quote> You need to get your son to an APPROVED CF CENTER ASAP. At the top right of this page you will find "FIND A CF CENTER" click onto that and find the Center near you.
Don't wait, he needs help right away.
Bill</end quote><br><br>This I completely agree with. <br>
CrisDopher
New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Printer</b></i>
Clearly your Doctor is not a CF Specialist and the info that he/she is giving you is VERY out of date. There are almost 1900 known mutations and they can all be tested. In 1963 I was tested and the range was only 250 mutations. I was recently retested and the range is now close to 1900. </end quote><br><br>That's interesting, Bill, but I think your dates need adjusting. The CF gene wasn't even discovered until 1988, when DF508 was identified. There was no widely available genetic testing until the mid-90's.<br><br>The only sources I've found on number of mutations just say "over 1000", so I agree that we've identified more than 800, but I haven't read 1900 anywhere.<br><br><div class="FTQUOTE"><begin quote> You need to get your son to an APPROVED CF CENTER ASAP. At the top right of this page you will find "FIND A CF CENTER" click onto that and find the Center near you.
Don't wait, he needs help right away.
Bill</end quote><br><br>This I completely agree with. <br>
Clearly your Doctor is not a CF Specialist and the info that he/she is giving you is VERY out of date. There are almost 1900 known mutations and they can all be tested. In 1963 I was tested and the range was only 250 mutations. I was recently retested and the range is now close to 1900. </end quote><br><br>That's interesting, Bill, but I think your dates need adjusting. The CF gene wasn't even discovered until 1988, when DF508 was identified. There was no widely available genetic testing until the mid-90's.<br><br>The only sources I've found on number of mutations just say "over 1000", so I agree that we've identified more than 800, but I haven't read 1900 anywhere.<br><br><div class="FTQUOTE"><begin quote> You need to get your son to an APPROVED CF CENTER ASAP. At the top right of this page you will find "FIND A CF CENTER" click onto that and find the Center near you.
Don't wait, he needs help right away.
Bill</end quote><br><br>This I completely agree with. <br>
Gentrygirl
New member
I agree, go to a CF center. For some more immediate relief, you might want to go ahead and get him on a nebulizer to ease some of the mucous. Saline is almost always very safe - for cleaning nasal passages, either with saline spray or a Neti pot (DON'T use tap water unless boiled), but also in the nebulizer. You can get one fairly inexpensively, especially the portable ones, through Amazon or a medical supply center. The saline viles (you'll want to buy those to make sure it's sanitary and the right percentage of salt) you can get from Amazon also (their much more diluted than what a Dr will prescribe, but will still help). People with more simple breathing problems use nebulizers as well, so it certainly won't hurt. Making sure he is eating enough salt will increase his appetite (we sneak a little extra in the gatorade). Have you tried opening his Creon into some ice cream (making sure its right before he eats it and its not more ice cream than he can eat, so he can get it all). Be careful with that, though. If he doesn't eat it right away, the fat from the ice cream can keep the enzymes from working correctly.
You didn't mention if he coughs?
Most importantly, NO. You are not doing anything wrong. Doctors don't have all the answers, and sometimes even if they do, it's hard to find it.
Hang in there! You're all he's got, and as hard as it is, he needs your strength. One thing I really struggled with was not showing my fear and anxiety in front of him - they feel it, absorb it, and then they live it, too. Strong, happy faces with the kids so they'll be strong and happy, too. Good luck!
You didn't mention if he coughs?
Most importantly, NO. You are not doing anything wrong. Doctors don't have all the answers, and sometimes even if they do, it's hard to find it.
Hang in there! You're all he's got, and as hard as it is, he needs your strength. One thing I really struggled with was not showing my fear and anxiety in front of him - they feel it, absorb it, and then they live it, too. Strong, happy faces with the kids so they'll be strong and happy, too. Good luck!
Gentrygirl
New member
I agree, go to a CF center. For some more immediate relief, you might want to go ahead and get him on a nebulizer to ease some of the mucous. Saline is almost always very safe - for cleaning nasal passages, either with saline spray or a Neti pot (DON'T use tap water unless boiled), but also in the nebulizer. You can get one fairly inexpensively, especially the portable ones, through Amazon or a medical supply center. The saline viles (you'll want to buy those to make sure it's sanitary and the right percentage of salt) you can get from Amazon also (their much more diluted than what a Dr will prescribe, but will still help). People with more simple breathing problems use nebulizers as well, so it certainly won't hurt. Making sure he is eating enough salt will increase his appetite (we sneak a little extra in the gatorade). Have you tried opening his Creon into some ice cream (making sure its right before he eats it and its not more ice cream than he can eat, so he can get it all). Be careful with that, though. If he doesn't eat it right away, the fat from the ice cream can keep the enzymes from working correctly.
You didn't mention if he coughs?
Most importantly, NO. You are not doing anything wrong. Doctors don't have all the answers, and sometimes even if they do, it's hard to find it.
Hang in there! You're all he's got, and as hard as it is, he needs your strength. One thing I really struggled with was not showing my fear and anxiety in front of him - they feel it, absorb it, and then they live it, too. Strong, happy faces with the kids so they'll be strong and happy, too. Good luck!
You didn't mention if he coughs?
Most importantly, NO. You are not doing anything wrong. Doctors don't have all the answers, and sometimes even if they do, it's hard to find it.
Hang in there! You're all he's got, and as hard as it is, he needs your strength. One thing I really struggled with was not showing my fear and anxiety in front of him - they feel it, absorb it, and then they live it, too. Strong, happy faces with the kids so they'll be strong and happy, too. Good luck!
I am so thankful for all of your responses so far. Braunson does cough when ever he get a sinus infection. It goes straight to his lungs. When he cant swollow the creon we break it open in applesauce because the directions say not to mix with milk products so we dont use icecream. But he also take prevacid and his antibiotic are a powder and they are aweful to break open. I was crying the other night after he went to bed (while I was writing this), because I was so frustrated and so the next night I gave him a Mucnex and today he did much better with his meds. He is still struggling but no crying and refusing to eat because he has to take medicine. I am going to look into a CF dr/clinic. But what is your take on this does it sound like it is CF or not??
I am so thankful for all of your responses so far. Braunson does cough when ever he get a sinus infection. It goes straight to his lungs. When he cant swollow the creon we break it open in applesauce because the directions say not to mix with milk products so we dont use icecream. But he also take prevacid and his antibiotic are a powder and they are aweful to break open. I was crying the other night after he went to bed (while I was writing this), because I was so frustrated and so the next night I gave him a Mucnex and today he did much better with his meds. He is still struggling but no crying and refusing to eat because he has to take medicine. I am going to look into a CF dr/clinic. But what is your take on this does it sound like it is CF or not??
CrisDopher: "THE GENE" was identified in 1989, two years after I was dx. Being and old man, I have senior moments so perhaps my first screening was done slightly after 1993 (and who said that my screen was not done as a test). I had a FULL SEQUENCING done in 2011 and at that time I was advised that there are "almost 1900 known mutations". Even if all of the above is incorrect, what is your point? I'll check with you before I post any additional dates, how will that work for you? Bill ADDITIONALLY:
I would refer you to a work published in June 2002 by Bobadilla JL, Macek M, Fine JP, Farrel PM "CYSTIC FRIBROSIS: A WORLDWIDE ANALYSIS OF CFTR MUTATIONS--CORRELATION WITH INCIDENCE DATA AND APPLICATION TO SCREENING" Herein they state that there are more than 1500 known mutations. That was in 2002.
I would refer you to a work published in June 2002 by Bobadilla JL, Macek M, Fine JP, Farrel PM "CYSTIC FRIBROSIS: A WORLDWIDE ANALYSIS OF CFTR MUTATIONS--CORRELATION WITH INCIDENCE DATA AND APPLICATION TO SCREENING" Herein they state that there are more than 1500 known mutations. That was in 2002.
CrisDopher: "THE GENE" was identified in 1989, two years after I was dx. Being and old man, I have senior moments so perhaps my first screening was done slightly after 1993 (and who said that my screen was not done as a test). I had a FULL SEQUENCING done in 2011 and at that time I was advised that there are "almost 1900 known mutations". Even if all of the above is incorrect, what is your point? I'll check with you before I post any additional dates, how will that work for you? Bill ADDITIONALLY:
I would refer you to a work published in June 2002 by Bobadilla JL, Macek M, Fine JP, Farrel PM "CYSTIC FRIBROSIS: A WORLDWIDE ANALYSIS OF CFTR MUTATIONS--CORRELATION WITH INCIDENCE DATA AND APPLICATION TO SCREENING" Herein they state that there are more than 1500 known mutations. That was in 2002.
I would refer you to a work published in June 2002 by Bobadilla JL, Macek M, Fine JP, Farrel PM "CYSTIC FRIBROSIS: A WORLDWIDE ANALYSIS OF CFTR MUTATIONS--CORRELATION WITH INCIDENCE DATA AND APPLICATION TO SCREENING" Herein they state that there are more than 1500 known mutations. That was in 2002.
I would push for more extensive testing and for a CF Center/specialist. Based on his symptoms, it does sound like CF. DS has had mostly digestive and sinus issues. He passed his sweat test with flying colors; however, was born with a bowel obstruction due to meconium illeus. A blood test, which only tested for the most common mutations indicated he did have cf.
I would push for more extensive testing and for a CF Center/specialist. Based on his symptoms, it does sound like CF. DS has had mostly digestive and sinus issues. He passed his sweat test with flying colors; however, was born with a bowel obstruction due to meconium illeus. A blood test, which only tested for the most common mutations indicated he did have cf.