Nephew and my two sons failed or borderline sweat test

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3boys
New Member


Date Joined Jul 2008
Total Posts : 6
   Posted 7/8/2008 8:28 PM (GMT -7)   
I need help!  I have a nephew that was tested two weeks ago and had a sweat test that was 49 and then retested sweat test on another day and it was a 61.  I have three boys and I had taken my youngest (7weeks old ) in for a check up and she checked his chart and his newborn screening he tested neg for CF.  She wanted to have my 5 and 3 year old boys tested with the sweat test just in case.  They were tested today and had high borderline scores of 47 and 44.  My nephew and my boys are all healthy kids.  This would also mean that me, my husband, my sister and my sister's husband are ALL carriers of CF.  This is astronomical.  My pediatrician mentioned something about mosaic gene??? A gene that maybe mimicing CF?  The reason my nephew was tested is that he had a sinus infection and the ENT does a "routine" check on all his patients with sinus infections.  I have called lots of relatives and in all the families mentioned as far as we can go back no one has been diagnosed as having CF or has died at an early age with unknown death.  Please if anyone has heard of similar cases then please let me know.  My ped is talking to a lung spec in the morning and we will go from there. 

Gemsi
Forum Moderator


Date Joined Feb 2007
Total Posts : 1050
   Posted 7/9/2008 3:26 AM (GMT -7)   
Hi there 3boys, welcome too healing well!

I have never heard of a mosaic gene, or anything else that mimics the CF gene. CF symptoms do happen things like nasal polyps and such, but never heard of genes being mimicked. There are different mutations of CF though, and only a percentage of them can be tested for.

It is possible that the CF gene is wide spread between your family, it is found in every 1 in 25 people. A singular carrier gene can do no harm on its own, but if a second parent is a carrier, then there is a one in 4 chance that a child will have Cystic Fibrosis.

The guthrie heel prick test done at birth, isn't an exact measure. To my understanding it is used because it is the best possible thing to find CF and other illness at birth. However it doesn't always work. Someone please corect me on this if I am wrong.

On one of the other CF forums, there has been a recent post about people who have known CF in the family. There are a suprisingly low amount, considering how "popular" the gene is. Here is that thread:
http://www.cftrust.org.uk/forum/viewtopic.php?t=9097&postdays=0&postorder=asc&start=0

Gem

Polite request also: You don't have too do this, it's not against forum rules, but could I just make a slight mention that your post is incredibly hard too read. Being such a bright blue on a white background. I personally had too force myself too read through your post. However many other members if they have the problem with reading bright blue on white won't be able too. I know that dyslexics struggle with the colour combination also. I believe you are more likely too get a full range of responses, if you stick too black, or a mix of colours too break it up a bit. As I say you don't have too do this, I will still force myself too read posts no matter what the colour, so you are sill guarenteed a response. Thanks, Gem.
Moderator of the Cystic Fibrosis Forums
Diagnosed with: Cystic Fibrosis, Asthma, ABPA, Clinical Depression, Mild Liver Cirrohsis, Mild Osteopenia, Erythema Nodosum. Waiting for final diagnosis on Muscular Dystrophy type symptoms.
Medication: Creon 10,000, Flucloxacillin, Vitamins A,D+E, Serevent, Salbutamol, Paracetamol, Ondansetron, Nefopam, Ursodeoxycholic Acid, Saline neb/PEP system, Mirtazapine,slow-sodium, Skandishake and Fresubin.
Had a Port-a-cath fitted on chest wall since Nov 05
Help support the forums so we can support you:  http://www.healingwell.com/donate
Sometimes, I feel that I should go and play with the thunder-In The Shadows by The Rasmus


3boys
New Member


Date Joined Jul 2008
Total Posts : 6
   Posted 7/9/2008 7:10 AM (GMT -7)   
 
Thanks for your advice on the color :)  I didn't realize that. 
 
I'm just a a loss.  It would make more sense if my husband and her husband both did not have to be carriers.  I'm wondering just how accurate this sweat test really is considering that I have read where people in the 10"s were in the normal range then had to go back and do blood test because they continue to have problems and realize they test positive for CF.  Also, I have read where one kid had a score of 60 and they did the blood test and they tested neg for CF.  I have read tons of these. 
 
 
I need help!  I have a nephew that was tested two weeks ago and had a sweat test that was 49 and then retested sweat test on another day and it was a 61.  I have three boys and I had taken my youngest (7weeks old ) in for a check up and she checked his chart and his newborn screening he tested neg for CF.  She wanted to have my 5 and 3 year old boys tested with the sweat test just in case.  They were tested today and had high borderline scores of 47 and 44.  My nephew and my boys are all healthy kids.  This would also mean that me, my husband, my sister and my sister's husband are ALL carriers of CF.  This is astronomical.  My pediatrician mentioned something about mosaic gene??? A gene that maybe mimicing CF?  The reason my nephew was tested is that he had a sinus infection and the ENT does a "routine" check on all his patients with sinus infections.  I have called lots of relatives and in all the families mentioned as far as we can go back no one has been diagnosed as having CF or has died at an early age with unknown death.  Please if anyone has heard of similar cases then please let me know.  My ped is talking to a lung spec in the morning and we will go from there. 

Gemsi
Forum Moderator


Date Joined Feb 2007
Total Posts : 1050
   Posted 7/9/2008 8:52 AM (GMT -7)   
Thankyou for changing the colour, much easier :D

Sweat tests are meant to be the most accurate of tests. 98% accurate. Whether they actually are or not, I'm not sure. The bordeline grey area is very confusing! I think the reason they usually do the sweat test is because the genetics test is harder and not as accurate.
 
With the genetics test they are looking for 2 copies of the CFTR protein, sitting on Choromosome 7. Unfortuantely though, they cannot test for all mutations of the gene. So they may spot one of the copies, but that doesn't indicate definately not CF, as the other one could be a gene they cannot yet test for.
 
With the sweat test, they are testing for problems with the chloride channels, which is what CF is all about, the doors for chloride don't work causing a build up of mucous everywhere. Infact I believe one of the only places CF doesn't effect is the eyes. People with CF sweat 100% more salt than the average person, so really the test should be extremely accurate. But then there are also other genes that vary from person too person, which override some of the effects the CF gene has.


As I say 1 in 25 of us are carriers. There is a 1 in 4 chance of 2 carriers having a child with cf, a 1 in 4 chance of their child not even being a carrier and 2 in 4 chance that their children will be carriers. Genetics are very confusing though. However CF is the UK's most common life-threatening illness. I don't know whether this is true for the US too. But it is a very common illness everywhere I think.

Sorry my post jumps around from one thing too another. Hope it's helpful too you though!

Gem


Moderator of the Cystic Fibrosis Forums
Diagnosed with: Cystic Fibrosis, Asthma, ABPA, Clinical Depression, Mild Liver Cirrohsis, Mild Osteopenia, Erythema Nodosum. Waiting for final diagnosis on Muscular Dystrophy type symptoms.
Medication: Creon 10,000, Flucloxacillin, Vitamins A,D+E, Serevent, Salbutamol, Paracetamol, Ondansetron, Nefopam, Ursodeoxycholic Acid, Saline neb/PEP system, Mirtazapine,slow-sodium, Skandishake and Fresubin.
Had a Port-a-cath fitted on chest wall since Nov 05
Help support the forums so we can support you:  http://www.healingwell.com/donate
Sometimes, I feel that I should go and play with the thunder-In The Shadows by The Rasmus

Post Edited (Darkies Gem) : 7/9/2008 10:03:02 AM (GMT-6)


3boys
New Member


Date Joined Jul 2008
Total Posts : 6
   Posted 7/9/2008 10:55 AM (GMT -7)   
My pediatrician just called and we are going ahead and having the Ambry test. She said they could all just be carriers or could have it. She wants to know b/c if they are just carriers my kids would need to have their wives tested before they married or had children to see if they were also carriers.

CF is one of the most common life threatining illnessess in children in the US. However, I was not aware of this until I started researching about it. There needs to be more awareness about the disease and how common it is. I'm going to do my best to try and raise awareness for CF. Right now I'm in a fog or in the dark. I have my moments when I ball uncontrollably.

I know that God has a plan for me and my babys, but when someone told me the other day it will be ok you will see. I said it's kinda hard to see in the dark. This was when I just thought my nephew had it. These are my babies :( I want to trade places with them. My husband has basically shut down. Thanks for hearing me out on this. I know I may be babbling, but with a 7 week old baby and with no sleep last night you can hopefully understand.
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