Teenager with positive sweat test? What next?

[H2OSPORTSMOM]

Hello everyone ,
I just wanted to give you an update . My son went to CF Center on May 10. Another sweat test was done and was a 55. His lungs are great however his sinuses look like a CF patients might look. We are now doing some genetic tests. We go draw blood tomorrow. The doctor however said because the lungs were so good that he does not think he has CF. I still think as his mother something is wrong. I feel he might have a very mild case . Even to the point that he does not have severe pancreatic issues, but some malabsoption to the point he stays hungry, and dehydrates easy, but not to the point of severe malnurishment. He is very heathy looking which is what throws the doctors off the minute they look at him. Does any one else out there shake bad or have tremors of the hands? my son does and the CF doc said it was not a symptom of CF. However vitamin E malabsorption over a long period of time can cause neurologic symptoms(Merck Manual). I am anxious to see what the blood work shows us . What other condition could had sweat tests of 64,57 and 55?

 

[NoExcuses]

Make sure you get the <b> FULL PANEL </b> Ambry test. Otherwise you may miss a CF mutation....

 

[NoExcuses]

Make sure you get the <b> FULL PANEL </b> Ambry test. Otherwise you may miss a CF mutation....

 

[NoExcuses]

Make sure you get the <b> FULL PANEL </b> Ambry test. Otherwise you may miss a CF mutation....

 

[Alyssa]

I cannot believe a doctor would tell you that because the lungs look good it is not CF.... seem irresponsible and ill informed to me. My kids both have good looking lungs too, but we know they have CF. We went for years with incorrect diagnosis because of a normal sweat test and good looking lungs.

No, the shaking is not usually a symptom of CF, but I can tell you that my son has tremors too -- it is neurological and has never been associated with his CF diagnosis. I honestly have no idea about the malabsorption causing the tremor, hopefully someone else can help you there.

Best of luck

 

[Alyssa]

I cannot believe a doctor would tell you that because the lungs look good it is not CF.... seem irresponsible and ill informed to me. My kids both have good looking lungs too, but we know they have CF. We went for years with incorrect diagnosis because of a normal sweat test and good looking lungs.

No, the shaking is not usually a symptom of CF, but I can tell you that my son has tremors too -- it is neurological and has never been associated with his CF diagnosis. I honestly have no idea about the malabsorption causing the tremor, hopefully someone else can help you there.

Best of luck

 

[Alyssa]

I cannot believe a doctor would tell you that because the lungs look good it is not CF.... seem irresponsible and ill informed to me. My kids both have good looking lungs too, but we know they have CF. We went for years with incorrect diagnosis because of a normal sweat test and good looking lungs.

No, the shaking is not usually a symptom of CF, but I can tell you that my son has tremors too -- it is neurological and has never been associated with his CF diagnosis. I honestly have no idea about the malabsorption causing the tremor, hopefully someone else can help you there.

Best of luck

 

[H2OSPORTSMOM]

Alyssa
I don't know why but I feel a connection to your situation. My son is 18 and the one with sweat test s of 64,57 and 55 at a CF Center and some diagnosed symptoms. However I have a 20 year old daughter in college. She is only 5'1" tall and has had some sinus problems the last two years, but we blamed it on the musky dorm. She played 3 sports in High School and won the highest athletic award given by her school. But since our son's latest health discoveries I am concerned about her. She still works out regular and eats very healthy, especially because of her height every pound shows. Tremors is what the CF doctor called my son's hands. But my daughter and husband have tremors too.
I have been so into researching everything because my husband 46 recently had symptoms of MS. The first thing neurologist checked him for , MRI negative . In the mean time I discovered my sons possible CF and began getting him tested. My research of neurologic symptoms also lead me to Vitamin E defeciency , the hardest for CF patients to absorb even with supplementation. My Merck Manual said that Vit. E defeciency can give you some of the same symptoms as MS in short. Also degeneration of the Mylin Sheath, covering over the nerves in the body, isn't this what causes MS symptoms too. My CF doc a few weeks ago confirmed that Vit. E defeciency can cause neurological symptoms. O.K. then if my family are just at the least carriers or could have a mild mutation the defeciency might not show in blood work but is a slight defeciency going on recognized for years causing the tremors, but at 46 all my husbands MS like symptoms too. CF Centers are used to dealing with severe cases and the need to look outside the box and study more on mild cases of CF and even CF carrier related symptoms maybe. I don't know the answers I just know my husband being sick is what lead me to my son getting tested in the first place. Also my husband has started over a month ago taking a vitamin supplement liquid form every day and has not had a severe neurological attack with blurred vision since and hands don't tremor as bad. It has Vit. E in it too. He is also begining to come off meds given to him to treat his symptoms until they could find the cause of his spells. We have kinda taken it into our own hands, one reason is because doctors want call you back and it is such a heart break to go to doctor after doctor and get no answers . You have to try different things on your own. A friend told us of this product of Vit. that come from Whole foods, God given stuff and it is working. I am going to start my son and daughter on it too . We'll see if doctor mom can help . I admire your motherly
advocacy on you childrens part. Thanks for reading my entries and giving your experiences and advice.
One question ? Did you do the ambrey test or just what test gave you your childrens diagnosis? The lab did a CF-70 on my son ? Any advice from here?
Thanks for everything!!!!

 

[H2OSPORTSMOM]

Alyssa
I don't know why but I feel a connection to your situation. My son is 18 and the one with sweat test s of 64,57 and 55 at a CF Center and some diagnosed symptoms. However I have a 20 year old daughter in college. She is only 5'1" tall and has had some sinus problems the last two years, but we blamed it on the musky dorm. She played 3 sports in High School and won the highest athletic award given by her school. But since our son's latest health discoveries I am concerned about her. She still works out regular and eats very healthy, especially because of her height every pound shows. Tremors is what the CF doctor called my son's hands. But my daughter and husband have tremors too.
I have been so into researching everything because my husband 46 recently had symptoms of MS. The first thing neurologist checked him for , MRI negative . In the mean time I discovered my sons possible CF and began getting him tested. My research of neurologic symptoms also lead me to Vitamin E defeciency , the hardest for CF patients to absorb even with supplementation. My Merck Manual said that Vit. E defeciency can give you some of the same symptoms as MS in short. Also degeneration of the Mylin Sheath, covering over the nerves in the body, isn't this what causes MS symptoms too. My CF doc a few weeks ago confirmed that Vit. E defeciency can cause neurological symptoms. O.K. then if my family are just at the least carriers or could have a mild mutation the defeciency might not show in blood work but is a slight defeciency going on recognized for years causing the tremors, but at 46 all my husbands MS like symptoms too. CF Centers are used to dealing with severe cases and the need to look outside the box and study more on mild cases of CF and even CF carrier related symptoms maybe. I don't know the answers I just know my husband being sick is what lead me to my son getting tested in the first place. Also my husband has started over a month ago taking a vitamin supplement liquid form every day and has not had a severe neurological attack with blurred vision since and hands don't tremor as bad. It has Vit. E in it too. He is also begining to come off meds given to him to treat his symptoms until they could find the cause of his spells. We have kinda taken it into our own hands, one reason is because doctors want call you back and it is such a heart break to go to doctor after doctor and get no answers . You have to try different things on your own. A friend told us of this product of Vit. that come from Whole foods, God given stuff and it is working. I am going to start my son and daughter on it too . We'll see if doctor mom can help . I admire your motherly
advocacy on you childrens part. Thanks for reading my entries and giving your experiences and advice.
One question ? Did you do the ambrey test or just what test gave you your childrens diagnosis? The lab did a CF-70 on my son ? Any advice from here?
Thanks for everything!!!!

 

[H2OSPORTSMOM]

Alyssa
I don't know why but I feel a connection to your situation. My son is 18 and the one with sweat test s of 64,57 and 55 at a CF Center and some diagnosed symptoms. However I have a 20 year old daughter in college. She is only 5'1" tall and has had some sinus problems the last two years, but we blamed it on the musky dorm. She played 3 sports in High School and won the highest athletic award given by her school. But since our son's latest health discoveries I am concerned about her. She still works out regular and eats very healthy, especially because of her height every pound shows. Tremors is what the CF doctor called my son's hands. But my daughter and husband have tremors too.
I have been so into researching everything because my husband 46 recently had symptoms of MS. The first thing neurologist checked him for , MRI negative . In the mean time I discovered my sons possible CF and began getting him tested. My research of neurologic symptoms also lead me to Vitamin E defeciency , the hardest for CF patients to absorb even with supplementation. My Merck Manual said that Vit. E defeciency can give you some of the same symptoms as MS in short. Also degeneration of the Mylin Sheath, covering over the nerves in the body, isn't this what causes MS symptoms too. My CF doc a few weeks ago confirmed that Vit. E defeciency can cause neurological symptoms. O.K. then if my family are just at the least carriers or could have a mild mutation the defeciency might not show in blood work but is a slight defeciency going on recognized for years causing the tremors, but at 46 all my husbands MS like symptoms too. CF Centers are used to dealing with severe cases and the need to look outside the box and study more on mild cases of CF and even CF carrier related symptoms maybe. I don't know the answers I just know my husband being sick is what lead me to my son getting tested in the first place. Also my husband has started over a month ago taking a vitamin supplement liquid form every day and has not had a severe neurological attack with blurred vision since and hands don't tremor as bad. It has Vit. E in it too. He is also begining to come off meds given to him to treat his symptoms until they could find the cause of his spells. We have kinda taken it into our own hands, one reason is because doctors want call you back and it is such a heart break to go to doctor after doctor and get no answers . You have to try different things on your own. A friend told us of this product of Vit. that come from Whole foods, God given stuff and it is working. I am going to start my son and daughter on it too . We'll see if doctor mom can help . I admire your motherly
advocacy on you childrens part. Thanks for reading my entries and giving your experiences and advice.
One question ? Did you do the ambrey test or just what test gave you your childrens diagnosis? The lab did a CF-70 on my son ? Any advice from here?
Thanks for everything!!!!

 

[Alyssa]

Both my kids were give full genetic testing to find their gene mutations. Even knowing what our daughter had, the doctor still ordered a full panel for our son. It is the best way to go, anything else is a waste of time because you will always be wondering what the test "didn't" find.

The vitamin E stuff is interesting, I should give it a try with my son and see if it makes a difference. One thing that came to mind as I was reading what you said about your children and husband all having tremors is, have you ever looked into the posibility of lead poisoning?

Yes, I would be concerned about your daughter as well -- get to a certified CF doctor who will give them both full genetic testing.

Best of luck!

 

[Alyssa]

Both my kids were give full genetic testing to find their gene mutations. Even knowing what our daughter had, the doctor still ordered a full panel for our son. It is the best way to go, anything else is a waste of time because you will always be wondering what the test "didn't" find.

The vitamin E stuff is interesting, I should give it a try with my son and see if it makes a difference. One thing that came to mind as I was reading what you said about your children and husband all having tremors is, have you ever looked into the posibility of lead poisoning?

Yes, I would be concerned about your daughter as well -- get to a certified CF doctor who will give them both full genetic testing.

Best of luck!

 

[Alyssa]

Both my kids were give full genetic testing to find their gene mutations. Even knowing what our daughter had, the doctor still ordered a full panel for our son. It is the best way to go, anything else is a waste of time because you will always be wondering what the test "didn't" find.

The vitamin E stuff is interesting, I should give it a try with my son and see if it makes a difference. One thing that came to mind as I was reading what you said about your children and husband all having tremors is, have you ever looked into the posibility of lead poisoning?

Yes, I would be concerned about your daughter as well -- get to a certified CF doctor who will give them both full genetic testing.

Best of luck!

 

[H2OSPORTSMOM]

Alyssa,
My husband has recently been checked for all heavy matals. He has seen a top world renound Neurologist at Duke University Medical Center, and he doesn't know why he has these symptoms. He has done some 24hour urine tests and now we can't get him to call us back so we don't have the results. We are now letting our new MD take over and see what he thinks after reviewing tests already done and doing more if necessary. But I think my theory has merit. Deficiency slight enough that a test doesn't show at a given time of blood work but is present all the same. Gradually damaging their nerves. First causing tremors then later in life showing up more with other symptoms liken to MS. Example my husband older sister also has sever neurological problems including bad memory problems, she is now 60. She has puzzled doc for years!
Oh does your children ever have mouth sores ? My son has had them pretty often growing up . He actually has a bad one right now that is what reminded me to ask.
I am so ready to get some answers. I pray this last genetic test will tell me something. If it doesn't I am probably going to ask for broader genetic testing to be done. Thanks for listening.!

 

[H2OSPORTSMOM]

Alyssa,
My husband has recently been checked for all heavy matals. He has seen a top world renound Neurologist at Duke University Medical Center, and he doesn't know why he has these symptoms. He has done some 24hour urine tests and now we can't get him to call us back so we don't have the results. We are now letting our new MD take over and see what he thinks after reviewing tests already done and doing more if necessary. But I think my theory has merit. Deficiency slight enough that a test doesn't show at a given time of blood work but is present all the same. Gradually damaging their nerves. First causing tremors then later in life showing up more with other symptoms liken to MS. Example my husband older sister also has sever neurological problems including bad memory problems, she is now 60. She has puzzled doc for years!
Oh does your children ever have mouth sores ? My son has had them pretty often growing up . He actually has a bad one right now that is what reminded me to ask.
I am so ready to get some answers. I pray this last genetic test will tell me something. If it doesn't I am probably going to ask for broader genetic testing to be done. Thanks for listening.!

 

[H2OSPORTSMOM]

Alyssa,
My husband has recently been checked for all heavy matals. He has seen a top world renound Neurologist at Duke University Medical Center, and he doesn't know why he has these symptoms. He has done some 24hour urine tests and now we can't get him to call us back so we don't have the results. We are now letting our new MD take over and see what he thinks after reviewing tests already done and doing more if necessary. But I think my theory has merit. Deficiency slight enough that a test doesn't show at a given time of blood work but is present all the same. Gradually damaging their nerves. First causing tremors then later in life showing up more with other symptoms liken to MS. Example my husband older sister also has sever neurological problems including bad memory problems, she is now 60. She has puzzled doc for years!
Oh does your children ever have mouth sores ? My son has had them pretty often growing up . He actually has a bad one right now that is what reminded me to ask.
I am so ready to get some answers. I pray this last genetic test will tell me something. If it doesn't I am probably going to ask for broader genetic testing to be done. Thanks for listening.!

 

[H2OSPORTSMOM]

Hello Friends,
I just wanted to give an up date. The CF center we went to did a CF 70. It is just that it only checked for 70 of the most common genes. We have not met with the CF Center to discuss results but we requested results from lab before we do meet back with them. The reslts are a bit confusing it reads - Negative for the mutations analysed. The Interpretation reads - This symptomatic patient is negative for common SF mutations. This result does not exclude a diagnosis of CF. It is possible that this patient has one if not two mutations not detected by this test. This test detects variable rates of mutations depending on patients ethnic background and so on. That was the most of it. I don't understand why test for only 70 of possible 1500 genes? How do you get physicians to help you rule this out and get on with your life. We do talk back with the CF Center Doctor on August 9, Test was done on May 15, another discouraging aspect. No one ever calls you back patients must feel like they are hopunding the docs to just call them back. I know we are blessed that Reid's lungs are so clear. His sinus not so good. He is still sweating salt bullets, but all in all doing good. I just want to be proactive if this is still a possibility. Why do docs not want to order the broader tests first is it insurance? We have great coverage there, I think. What would some of you do that have been down this path before. I need some leverage advice so when I go back to the Center next month. Thanks for your advice and encouragment so far!! Thanks for this site on the Web!!

 

[H2OSPORTSMOM]

Hello Friends,
I just wanted to give an up date. The CF center we went to did a CF 70. It is just that it only checked for 70 of the most common genes. We have not met with the CF Center to discuss results but we requested results from lab before we do meet back with them. The reslts are a bit confusing it reads - Negative for the mutations analysed. The Interpretation reads - This symptomatic patient is negative for common SF mutations. This result does not exclude a diagnosis of CF. It is possible that this patient has one if not two mutations not detected by this test. This test detects variable rates of mutations depending on patients ethnic background and so on. That was the most of it. I don't understand why test for only 70 of possible 1500 genes? How do you get physicians to help you rule this out and get on with your life. We do talk back with the CF Center Doctor on August 9, Test was done on May 15, another discouraging aspect. No one ever calls you back patients must feel like they are hopunding the docs to just call them back. I know we are blessed that Reid's lungs are so clear. His sinus not so good. He is still sweating salt bullets, but all in all doing good. I just want to be proactive if this is still a possibility. Why do docs not want to order the broader tests first is it insurance? We have great coverage there, I think. What would some of you do that have been down this path before. I need some leverage advice so when I go back to the Center next month. Thanks for your advice and encouragment so far!! Thanks for this site on the Web!!

 

[H2OSPORTSMOM]

Hello Friends,
I just wanted to give an up date. The CF center we went to did a CF 70. It is just that it only checked for 70 of the most common genes. We have not met with the CF Center to discuss results but we requested results from lab before we do meet back with them. The reslts are a bit confusing it reads - Negative for the mutations analysed. The Interpretation reads - This symptomatic patient is negative for common SF mutations. This result does not exclude a diagnosis of CF. It is possible that this patient has one if not two mutations not detected by this test. This test detects variable rates of mutations depending on patients ethnic background and so on. That was the most of it. I don't understand why test for only 70 of possible 1500 genes? How do you get physicians to help you rule this out and get on with your life. We do talk back with the CF Center Doctor on August 9, Test was done on May 15, another discouraging aspect. No one ever calls you back patients must feel like they are hopunding the docs to just call them back. I know we are blessed that Reid's lungs are so clear. His sinus not so good. He is still sweating salt bullets, but all in all doing good. I just want to be proactive if this is still a possibility. Why do docs not want to order the broader tests first is it insurance? We have great coverage there, I think. What would some of you do that have been down this path before. I need some leverage advice so when I go back to the Center next month. Thanks for your advice and encouragment so far!! Thanks for this site on the Web!!

 

[H2OSPORTSMOM]

Hello Friends,
I just wanted to give an up date. The CF center we went to did a CF 70. It is just that it only checked for 70 of the most common genes. We have not met with the CF Center to discuss results but we requested results from lab before we do meet back with them. The reslts are a bit confusing it reads - Negative for the mutations analysed. The Interpretation reads - This symptomatic patient is negative for common SF mutations. This result does not exclude a diagnosis of CF. It is possible that this patient has one if not two mutations not detected by this test. This test detects variable rates of mutations depending on patients ethnic background and so on. That was the most of it. I don't understand why test for only 70 of possible 1500 genes? How do you get physicians to help you rule this out and get on with your life. We do talk back with the CF Center Doctor on August 9, Test was done on May 15, another discouraging aspect. No one ever calls you back patients must feel like they are hopunding the docs to just call them back. I know we are blessed that Reid's lungs are so clear. His sinus not so good. He is still sweating salt bullets, but all in all doing good. I just want to be proactive if this is still a possibility. Why do docs not want to order the broader tests first is it insurance? We have great coverage there, I think. What would some of you do that have been down this path before. I need some leverage advice so when I go back to the Center next month. Thanks for your advice and encouragment so far!! Thanks for this site on the Web!!