borderline sweat test results?

M

mywombmates

New member
hello all, i was hoping for some guidance or advice here. i am mom to 2 beautiful twins, a boy and girl, 4 years old. my daughter has had resp problems since birth (frequent colds, hospitalizations for 2 documented pneumonias, allergies, etc.) i have a severe asthma and allergy history, so we always assumed that she unfortunately took after me. after her most recent hospitalization, her MD wanted her seen bya peds pulm/allergist. plus, my son also had problems with allergies (not the recurrent illnesses though). so they both went and as part of his work up, the doctor ordered sweat tests for CF (i did have a family history of CF in a paternal cousin). my daughter's value was 54, my son's 48. according to out hospital's lab, they consider anything about 49 a positive, putting my daugher in the positive zone and my son at the borderline. they go for repeat sweat tests tomorrow and the genetic blood work.
i was just wondering what anyone's experience was regarding the sweat tests when they are "borderline." is a borderline value typically indicative of a CF diagnosis? just to be sure, i am taking them to a CF certified children's hospital for the repeat tests (the first hospital was NOT certified, but i learned that the techinician was the head of laboratory services there, and he appeared proficient).
thank you all for any and all information!
 
M

mywombmates

New member
hello all, i was hoping for some guidance or advice here. i am mom to 2 beautiful twins, a boy and girl, 4 years old. my daughter has had resp problems since birth (frequent colds, hospitalizations for 2 documented pneumonias, allergies, etc.) i have a severe asthma and allergy history, so we always assumed that she unfortunately took after me. after her most recent hospitalization, her MD wanted her seen bya peds pulm/allergist. plus, my son also had problems with allergies (not the recurrent illnesses though). so they both went and as part of his work up, the doctor ordered sweat tests for CF (i did have a family history of CF in a paternal cousin). my daughter's value was 54, my son's 48. according to out hospital's lab, they consider anything about 49 a positive, putting my daugher in the positive zone and my son at the borderline. they go for repeat sweat tests tomorrow and the genetic blood work.
i was just wondering what anyone's experience was regarding the sweat tests when they are "borderline." is a borderline value typically indicative of a CF diagnosis? just to be sure, i am taking them to a CF certified children's hospital for the repeat tests (the first hospital was NOT certified, but i learned that the techinician was the head of laboratory services there, and he appeared proficient).
thank you all for any and all information!
 
E

edan

Guest
Hi. I am so sorry you are having to deal with this. There are some mutations in CF that lend themselves to a "borderline" sweat test result. My daughter's was a 58. We found out at age 3 that she had CF. Her mutations are in my signature. Our experience was that my daughter didn't have any symptoms at all. Literally. My husband and I found out we were carriers through my new OB and so I rushed her in to have her sweat tested. After the sweat test result, we had her genetics run to confirm it.

The good news is that if your children do turn out positive for CF, then they will have access to the care they need to keep as healthy as possible. It for sure is a rough start learning about a diagnosis as CF and then learning how to handle all of the treatments and modified lifestyle. However, I can tell you this site and the people on it are soooooo supportive that they will help you get to your "new" normal. Having a child with CF is a little extra work, but we have learned to adapt and our lives (and my now 5 year old daughter's) are truly amazing. Plus, those Vertex drugs are looking very promising. I think our children will lead long, productive, fulfilled lives.

Regarding other causes for borderline sweat tests, I am sure you have googled those as had I. With your children's symptoms and sweat test results, I am willing to bet they will at least have some mild mutations show up, but I wonder if they had the newborn screening? I would assume that turned up negative?
 
E

edan

Guest
Hi. I am so sorry you are having to deal with this. There are some mutations in CF that lend themselves to a "borderline" sweat test result. My daughter's was a 58. We found out at age 3 that she had CF. Her mutations are in my signature. Our experience was that my daughter didn't have any symptoms at all. Literally. My husband and I found out we were carriers through my new OB and so I rushed her in to have her sweat tested. After the sweat test result, we had her genetics run to confirm it.

The good news is that if your children do turn out positive for CF, then they will have access to the care they need to keep as healthy as possible. It for sure is a rough start learning about a diagnosis as CF and then learning how to handle all of the treatments and modified lifestyle. However, I can tell you this site and the people on it are soooooo supportive that they will help you get to your "new" normal. Having a child with CF is a little extra work, but we have learned to adapt and our lives (and my now 5 year old daughter's) are truly amazing. Plus, those Vertex drugs are looking very promising. I think our children will lead long, productive, fulfilled lives.

Regarding other causes for borderline sweat tests, I am sure you have googled those as had I. With your children's symptoms and sweat test results, I am willing to bet they will at least have some mild mutations show up, but I wonder if they had the newborn screening? I would assume that turned up negative?
 
M

mywombmates

New member
Thank you so much for your response! Yes, both of the twins' newborn screens were negative. Tomorrow morning we are going for the repeat sweat tests at a CF certified care center, so hopefully they will have more insight and information. I am a nurse, and unfortunately, my knowledge as a nurse is making this situation even more stressful. Many blessings for good health to your family!
 
M

mywombmates

New member
Thank you so much for your response! Yes, both of the twins' newborn screens were negative. Tomorrow morning we are going for the repeat sweat tests at a CF certified care center, so hopefully they will have more insight and information. I am a nurse, and unfortunately, my knowledge as a nurse is making this situation even more stressful. Many blessings for good health to your family!
 
L

lifeisgood729

Guest
My 3 brothers and I all had borderline sweat tests in the early 1970s, long before genetic testing. We were tested because my oldest brother was having respiratory issues, but he was already 17, so most doctors didn't think to test for CF. I would speculate that lower sweat chloride levels mean a milder course of disease (?) I was completely asymptomatic until I went away to college. All four of us are pancreatic sufficient. Taking care of CF has become a full-time job for me, but I've still lived a relatively healthy life for someone with this stupid disease. My oldest brother is now 56, and the youngest, who is 39, ran a marathon last year. It is my hope that with the drugs in the pipeline now, I'll live to see my grandchildren, and someday soon all children born with CF will live long, healthy lives.

Our mutations are df508 and 3849+10kb, C-T, same as Edan's daughter.

Martha
44 w/CF, mom to 3, no CF
 
L

lifeisgood729

Guest
My 3 brothers and I all had borderline sweat tests in the early 1970s, long before genetic testing. We were tested because my oldest brother was having respiratory issues, but he was already 17, so most doctors didn't think to test for CF. I would speculate that lower sweat chloride levels mean a milder course of disease (?) I was completely asymptomatic until I went away to college. All four of us are pancreatic sufficient. Taking care of CF has become a full-time job for me, but I've still lived a relatively healthy life for someone with this stupid disease. My oldest brother is now 56, and the youngest, who is 39, ran a marathon last year. It is my hope that with the drugs in the pipeline now, I'll live to see my grandchildren, and someday soon all children born with CF will live long, healthy lives.

Our mutations are df508 and 3849+10kb, C-T, same as Edan's daughter.

Martha
44 w/CF, mom to 3, no CF
 
P

Printer

Active member
Mywombmates:

I had two borderline sweat tests prior to my dx. Since then my dx has been confirmed by nasal, rectal biopsy and by a FULL CF SEQUENCING.

Sweats tests are a good screening test, nothing more. A limited CF sequencing is better but still a screening. You should have your children seen at a APPROVED CF CENTER by a CF SPECIALIST. They need to have a FULL CF SEQUENCING for almost 1500 mutations, not one for a lesser number.

I was dx 25 years age and I will tell you, I am healthier now than before my dx.

Good luck,
Bill
 
P

Printer

Active member
Mywombmates:

I had two borderline sweat tests prior to my dx. Since then my dx has been confirmed by nasal, rectal biopsy and by a FULL CF SEQUENCING.

Sweats tests are a good screening test, nothing more. A limited CF sequencing is better but still a screening. You should have your children seen at a APPROVED CF CENTER by a CF SPECIALIST. They need to have a FULL CF SEQUENCING for almost 1500 mutations, not one for a lesser number.

I was dx 25 years age and I will tell you, I am healthier now than before my dx.

Good luck,
Bill
 
D

dream2live

New member
<strong>I am in agreement with Edan regarding this website. It's very informative from ppl that have CF, instead of reading your standard textbook written by doctors that probably don't have CF....just sayin</strong>
 
D

dream2live

New member
<strong>I am in agreement with Edan regarding this website. It's very informative from ppl that have CF, instead of reading your standard textbook written by doctors that probably don't have CF....just sayin</strong>
 
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