Dont know where to go from here

Liamsmommy · Dec 29, 2006

Hi all. There so much I want to say and so many un answered questions that I don't know where to begin. My name is Shawna and I have 5 children ages 4, 3, 2, 1, and 4 months (well almost 4 months). My son was born on Aug. 31 06 and since then has been in and out of hospital with Bronchiolitis and "bronculaar pneumonia". He's been sick since the day he was born. At 5 days old the "cold" started by 7 weeks he was in hospital with it. He was discharged still with "bronchiolitis" but was told he was on the mend and would be fine. He never did get better he got worse and worse. On Dec. 12 I has to take him back to the hospital where to discharged him and told me that he was asthmatic and sent me home with puffers. 3 days later we were back in the hospital and this time they sent us home with the nebuliser. then on the 21st he was back in the hospital this time they kept him and decided that it was time to do more testing (after of course I put it in there minds). His sweat test came back "normal 39" and his stool came back positive for "some fat" (mind u the child was not eating much at all because he couldn't breath so I would like to know how much fat would have been in his stool if he had been eating normal). They also did a "milk scan" to check for aspiration witch of course was neg. He's in the 50 percentile for weight so they are not concerned. That being said my other 4 children were all in the 95 percentile so I don't know. They are also now He's being tested for Autoimmune disorders. He sweets like a pig and his stool is pale green and is either flaky or very loose and the stink! my goodness. This poor baby is so sick and I don't know what to do. When they were doing his neb treatments in the hospital all the nurses commented on how good he sound before the treatments and then he would sound wheezy and crackly after the treatments. I don't get it if he was Asthmatic then wouldn't he be clear after his treatment???

I have a 3 year old with autism and a 2 year old with Diabetes and form what I have been reading Diabetes is more uncommon then CF. We have many genetic problems with our children so what are the odds?? I don't know where to go from here or what other test should be done. The doctors have also said that maybe he has a lung deformity! as if.

Any advice would be appreciated.

Sorry this is so long and I'm sure I have left out so much for I wanted to say.

Shawna

Liamsmommy · Dec 29, 2006

Hi all. There so much I want to say and so many un answered questions that I don't know where to begin. My name is Shawna and I have 5 children ages 4, 3, 2, 1, and 4 months (well almost 4 months). My son was born on Aug. 31 06 and since then has been in and out of hospital with Bronchiolitis and "bronculaar pneumonia". He's been sick since the day he was born. At 5 days old the "cold" started by 7 weeks he was in hospital with it. He was discharged still with "bronchiolitis" but was told he was on the mend and would be fine. He never did get better he got worse and worse. On Dec. 12 I has to take him back to the hospital where to discharged him and told me that he was asthmatic and sent me home with puffers. 3 days later we were back in the hospital and this time they sent us home with the nebuliser. then on the 21st he was back in the hospital this time they kept him and decided that it was time to do more testing (after of course I put it in there minds). His sweat test came back "normal 39" and his stool came back positive for "some fat" (mind u the child was not eating much at all because he couldn't breath so I would like to know how much fat would have been in his stool if he had been eating normal). They also did a "milk scan" to check for aspiration witch of course was neg. He's in the 50 percentile for weight so they are not concerned. That being said my other 4 children were all in the 95 percentile so I don't know. They are also now He's being tested for Autoimmune disorders. He sweets like a pig and his stool is pale green and is either flaky or very loose and the stink! my goodness. This poor baby is so sick and I don't know what to do. When they were doing his neb treatments in the hospital all the nurses commented on how good he sound before the treatments and then he would sound wheezy and crackly after the treatments. I don't get it if he was Asthmatic then wouldn't he be clear after his treatment???

I have a 3 year old with autism and a 2 year old with Diabetes and form what I have been reading Diabetes is more uncommon then CF. We have many genetic problems with our children so what are the odds?? I don't know where to go from here or what other test should be done. The doctors have also said that maybe he has a lung deformity! as if.

Any advice would be appreciated.

Sorry this is so long and I'm sure I have left out so much for I wanted to say.

Shawna

Liamsmommy · Dec 29, 2006

Hi all. There so much I want to say and so many un answered questions that I don't know where to begin. My name is Shawna and I have 5 children ages 4, 3, 2, 1, and 4 months (well almost 4 months). My son was born on Aug. 31 06 and since then has been in and out of hospital with Bronchiolitis and "bronculaar pneumonia". He's been sick since the day he was born. At 5 days old the "cold" started by 7 weeks he was in hospital with it. He was discharged still with "bronchiolitis" but was told he was on the mend and would be fine. He never did get better he got worse and worse. On Dec. 12 I has to take him back to the hospital where to discharged him and told me that he was asthmatic and sent me home with puffers. 3 days later we were back in the hospital and this time they sent us home with the nebuliser. then on the 21st he was back in the hospital this time they kept him and decided that it was time to do more testing (after of course I put it in there minds). His sweat test came back "normal 39" and his stool came back positive for "some fat" (mind u the child was not eating much at all because he couldn't breath so I would like to know how much fat would have been in his stool if he had been eating normal). They also did a "milk scan" to check for aspiration witch of course was neg. He's in the 50 percentile for weight so they are not concerned. That being said my other 4 children were all in the 95 percentile so I don't know. They are also now He's being tested for Autoimmune disorders. He sweets like a pig and his stool is pale green and is either flaky or very loose and the stink! my goodness. This poor baby is so sick and I don't know what to do. When they were doing his neb treatments in the hospital all the nurses commented on how good he sound before the treatments and then he would sound wheezy and crackly after the treatments. I don't get it if he was Asthmatic then wouldn't he be clear after his treatment???

I have a 3 year old with autism and a 2 year old with Diabetes and form what I have been reading Diabetes is more uncommon then CF. We have many genetic problems with our children so what are the odds?? I don't know where to go from here or what other test should be done. The doctors have also said that maybe he has a lung deformity! as if.

Any advice would be appreciated.

Sorry this is so long and I'm sure I have left out so much for I wanted to say.

Shawna

Mommafirst · Dec 29, 2006

Oh Shawna, I'm so sorry you have been on such a tough road since August. If I were you I'd insist on getting another sweat test and a genetic test too. A 39 is practically borderline (borderline is 40) and they usually retest in the borderline range. My daughter had two borderline sweats and has CF. It is not common to have borderline or normal sweats and still have CF. You need to have this testing done at an accredited CF center -- they should definitely know to retest a 39.

Welcome to this site. You are doing great as a mom, knowing to find the answers and ask about what you can't find. Keep being your Liam's advocate. You are the only one he has. And good luck!!! I hope you get some answers, and more important, some help to get him healthy and feeling better!!!!

Mommafirst · Dec 29, 2006

Oh Shawna, I'm so sorry you have been on such a tough road since August. If I were you I'd insist on getting another sweat test and a genetic test too. A 39 is practically borderline (borderline is 40) and they usually retest in the borderline range. My daughter had two borderline sweats and has CF. It is not common to have borderline or normal sweats and still have CF. You need to have this testing done at an accredited CF center -- they should definitely know to retest a 39.

Welcome to this site. You are doing great as a mom, knowing to find the answers and ask about what you can't find. Keep being your Liam's advocate. You are the only one he has. And good luck!!! I hope you get some answers, and more important, some help to get him healthy and feeling better!!!!

Mommafirst · Dec 29, 2006

Oh Shawna, I'm so sorry you have been on such a tough road since August. If I were you I'd insist on getting another sweat test and a genetic test too. A 39 is practically borderline (borderline is 40) and they usually retest in the borderline range. My daughter had two borderline sweats and has CF. It is not common to have borderline or normal sweats and still have CF. You need to have this testing done at an accredited CF center -- they should definitely know to retest a 39.

Welcome to this site. You are doing great as a mom, knowing to find the answers and ask about what you can't find. Keep being your Liam's advocate. You are the only one he has. And good luck!!! I hope you get some answers, and more important, some help to get him healthy and feeling better!!!!

Liamsmommy · Dec 29, 2006

Oh and did I mention that his hands and feet are always like ice and yet hes always sweating!!!!

Liamsmommy · Dec 29, 2006

Oh and did I mention that his hands and feet are always like ice and yet hes always sweating!!!!

Liamsmommy · Dec 29, 2006

Oh and did I mention that his hands and feet are always like ice and yet hes always sweating!!!!

Liamsmommy · Dec 29, 2006

Thank you Heather for your insight. I wasn't sure if a 39 was borderline or a for sure no he doesn't have it. What type of genetic testing should I be asking for?? We live in a small town and they don't seem to know much about anything here. We travel 2.5 hours to get to the nearest children's hospital for my diabetic so form what I'm gathering it would be in his best interest to have my son referred there as well.........I just don't know what to do I want my baby to get healthy!
Thank you

Liamsmommy · Dec 29, 2006

Thank you Heather for your insight. I wasn't sure if a 39 was borderline or a for sure no he doesn't have it. What type of genetic testing should I be asking for?? We live in a small town and they don't seem to know much about anything here. We travel 2.5 hours to get to the nearest children's hospital for my diabetic so form what I'm gathering it would be in his best interest to have my son referred there as well.........I just don't know what to do I want my baby to get healthy!
Thank you

Liamsmommy · Dec 29, 2006

Thank you Heather for your insight. I wasn't sure if a 39 was borderline or a for sure no he doesn't have it. What type of genetic testing should I be asking for?? We live in a small town and they don't seem to know much about anything here. We travel 2.5 hours to get to the nearest children's hospital for my diabetic so form what I'm gathering it would be in his best interest to have my son referred there as well.........I just don't know what to do I want my baby to get healthy!
Thank you

Imogene · Dec 29, 2006

Shawna:

We have a genetic counselor from Ambrygenetics here on the site to answer your questions.

Go to the Family Section at the top and post this question on that thread to Steve Keiles.

He'll have answers to your questions about diagnosis.

Best wishes to you on this journey!

Jeanne

Imogene · Dec 29, 2006

Shawna:

We have a genetic counselor from Ambrygenetics here on the site to answer your questions.

Go to the Family Section at the top and post this question on that thread to Steve Keiles.

He'll have answers to your questions about diagnosis.

Best wishes to you on this journey!

Jeanne

Imogene · Dec 29, 2006

Shawna:

We have a genetic counselor from Ambrygenetics here on the site to answer your questions.

Go to the Family Section at the top and post this question on that thread to Steve Keiles.

He'll have answers to your questions about diagnosis.

Best wishes to you on this journey!

Jeanne

Alyssa · Dec 30, 2006

Hi Shawna -- ditto to Heather's post -- I wouldn't trust the 39 sweat test as a conclusive "no CF". Please read my blog (link is in my signature line) My daughter has always tested at 38 and we now know she has CF. Sweat tests are a good, cheap, easy FIRST step in determining a CF diagnosis, but in your case (and may others) it should not be the only factor. Alone it is far too inconclusive if it is anywhere in the borderline or high normal area along with CF symptoms. Your child's symptoms certainly do raise several red flags that should be thoroughly checked out by a physician who is familiar with diagnosis and treating CF. Check out the CFF.org website to find the nearest certified CF center and go there if at all possible. Second to that find a pediatric pulmonologist who professes to have experience with cystic fibrosis.

The genetic testing we are referring to is an extensive blood test -- don't let them just do a "screening" Insist on testing for ALL the known CF genes (more than 1,400) It's expensive and sometime you will run into insurance hassles, but with a good, experience CF doctor you should be able to get it done.

Best wishes, and please keep us posted.

Alyssa · Dec 30, 2006

Hi Shawna -- ditto to Heather's post -- I wouldn't trust the 39 sweat test as a conclusive "no CF". Please read my blog (link is in my signature line) My daughter has always tested at 38 and we now know she has CF. Sweat tests are a good, cheap, easy FIRST step in determining a CF diagnosis, but in your case (and may others) it should not be the only factor. Alone it is far too inconclusive if it is anywhere in the borderline or high normal area along with CF symptoms. Your child's symptoms certainly do raise several red flags that should be thoroughly checked out by a physician who is familiar with diagnosis and treating CF. Check out the CFF.org website to find the nearest certified CF center and go there if at all possible. Second to that find a pediatric pulmonologist who professes to have experience with cystic fibrosis.

The genetic testing we are referring to is an extensive blood test -- don't let them just do a "screening" Insist on testing for ALL the known CF genes (more than 1,400) It's expensive and sometime you will run into insurance hassles, but with a good, experience CF doctor you should be able to get it done.

Best wishes, and please keep us posted.

Alyssa · Dec 30, 2006

Hi Shawna -- ditto to Heather's post -- I wouldn't trust the 39 sweat test as a conclusive "no CF". Please read my blog (link is in my signature line) My daughter has always tested at 38 and we now know she has CF. Sweat tests are a good, cheap, easy FIRST step in determining a CF diagnosis, but in your case (and may others) it should not be the only factor. Alone it is far too inconclusive if it is anywhere in the borderline or high normal area along with CF symptoms. Your child's symptoms certainly do raise several red flags that should be thoroughly checked out by a physician who is familiar with diagnosis and treating CF. Check out the CFF.org website to find the nearest certified CF center and go there if at all possible. Second to that find a pediatric pulmonologist who professes to have experience with cystic fibrosis.

The genetic testing we are referring to is an extensive blood test -- don't let them just do a "screening" Insist on testing for ALL the known CF genes (more than 1,400) It's expensive and sometime you will run into insurance hassles, but with a good, experience CF doctor you should be able to get it done.

Best wishes, and please keep us posted.

Liamsmommy · Jan 4, 2007

Just a small update on my frustrations! We went to the Peds doctor today to get the rest of my sons test results: She said all his labs for liver and kidney function have came back normal. I mentioned to her that the 39 sweat test is pretty much boarder Line and she told me NO she said it was perfectly normal and that she would not order Gen testing!!! I dont get it why wont she just do the test if for any reason at all just to give me the peace of mind that she doesn't have CF?? She is however sending us To Sick Kids hospital in Toronto to see a Lung specialist so Im hoping that they will repeat the sweat test and maybe I can get them to do the gen testing there. However it looks like it will be months of limbo.
Thanks all for the info and please pray that Sick Kids will get to the bottom of all of this and do the Gen. testing

Thanks
Shawna

Liamsmommy · Jan 4, 2007

Just a small update on my frustrations! We went to the Peds doctor today to get the rest of my sons test results: She said all his labs for liver and kidney function have came back normal. I mentioned to her that the 39 sweat test is pretty much boarder Line and she told me NO she said it was perfectly normal and that she would not order Gen testing!!! I dont get it why wont she just do the test if for any reason at all just to give me the peace of mind that she doesn't have CF?? She is however sending us To Sick Kids hospital in Toronto to see a Lung specialist so Im hoping that they will repeat the sweat test and maybe I can get them to do the gen testing there. However it looks like it will be months of limbo.
Thanks all for the info and please pray that Sick Kids will get to the bottom of all of this and do the Gen. testing

Thanks
Shawna

Dont know where to go from here

New member

New member

New member

Mommafirst

Guest

Mommafirst

Guest

Mommafirst

Guest

New member

New member

New member

New member

New member

New member

Administrator

Administrator

Administrator

New member

New member

New member

New member

New member