Has anyone had a negative newborn screening yet still have CF?
- Thread starter JENNYC
- Start date
Aboveallislove
Super Moderator
Jenny,
We haven't, but it is definitely possible because the newborn screen only tests for certain mutations and some states it is very narrow. I had a friend whose daughter had one copy of df508 and they were getting ready for sweat test so I called their state's newborn screening to find out what they screen for and it was only like 5 mutations. There is something else that can be elevated to indicate CF which triggers further testing, can't think of it--initials like ISG--but that doesn't always show a high level, assuming the state tests for it. So it is definitely possible. If it were me, I'd call the state and find out EXACTLY what the state's newborn screen is testing for to know how broad it is prior to the sweat test.
Hugs and Prayers and hope the kiddos and you/dh are doing well.
We've been back to tummy issues for two weeks here but just getting back on track now.
We haven't, but it is definitely possible because the newborn screen only tests for certain mutations and some states it is very narrow. I had a friend whose daughter had one copy of df508 and they were getting ready for sweat test so I called their state's newborn screening to find out what they screen for and it was only like 5 mutations. There is something else that can be elevated to indicate CF which triggers further testing, can't think of it--initials like ISG--but that doesn't always show a high level, assuming the state tests for it. So it is definitely possible. If it were me, I'd call the state and find out EXACTLY what the state's newborn screen is testing for to know how broad it is prior to the sweat test.
Hugs and Prayers and hope the kiddos and you/dh are doing well.
We've been back to tummy issues for two weeks here but just getting back on track now.
Thanks!! My friend has a 20 month that has had 3 sinus surgeries all ready and currently has a PICC line from more sinus drama. His diapers she said will stink you out of the house and are loose and look like they have mucus in them. She said he drinks like a gallon of tea a day and eats twice as much as her 5 year old. I told her he needs to be tested but they are fighting her on it because he had a negative new born screening. The other thing that makes me scratch my head though is his Immunolglobin(spelling?) levels have been off which I've never had experience or heard anyone else ever talk about that before. His weight is at 80% and his height is 45% so they are also not wanting to test him due to that. I told her I would want it ruled out for sure. She said he has been sick practically since birth and is constantly on antibiotics. I just feel for her so much and it brings back such ugly memories 
Abby is doing great! We just got her a new PFT machine and according to it she is doing super...but haven't gotten to check it with the clinic yet to be sure it is not blowing smoke. But so far she has blown a 1.53 and a 1.58! Now she's also blown a 1.27 and 1.40 but she's also having to get use to it. And she HATES doing PFT's I know mean old mommy for making her do them I hate so badly to hear that your little guy is suffering from more tummy trouble It breaks my heart to hear that! Glad to hear he is getting back on track though!! As always...I love talking with you!!!
Abby is doing great! We just got her a new PFT machine and according to it she is doing super...but haven't gotten to check it with the clinic yet to be sure it is not blowing smoke. But so far she has blown a 1.53 and a 1.58! Now she's also blown a 1.27 and 1.40 but she's also having to get use to it. And she HATES doing PFT's
I know mean old mommy for making her do them I hate so badly to hear that your little guy is suffering from more tummy trouble It breaks my heart to hear that! Glad to hear he is getting back on track though!! As always...I love talking with you!!!
A
Anthea
Guest
Hi Jenny
Newborn screening in Australia of our eldest daughter questioned possibility of CF. Sweat test was then scheduled and came back negative. To 'confirm' nonCF my husband and I were sent for genetic testing. Mine came back Delta F508 and his clear. They said "86% certain that he is not a carrier of CF mutation, however their tests do not check for all mutations." We were told she's then a carrier of CF gene and to inform her later in life of this.
Fast forward 4.5 years, now living in New Zealand, eldest daughter being unwell for 18mths (coughing continually, backwards and forwards to Drs with various reasons from viral to asthma and then continuous weight loss an energy) she was hospitalised within an hour of specialist paediatric appointment. A week later CF diagnosis and husband's gene mutation identified R560T. Took nearly losing our daughter to get accurate diagnosis. 2013...Our eldest daughter is now almost 8years old with FEV1 95% as of yesterday! Gains weight but gains height equally as fast effecting BMI...other side of genetic coin! (Youngest daughter was born before sister's diagnosis and doesn't have CF. Unsure if she is a carrier as they won't disclose that until she is older and wants to make that decision herself!)
Best wishes to you and your friend
Newborn screening in Australia of our eldest daughter questioned possibility of CF. Sweat test was then scheduled and came back negative. To 'confirm' nonCF my husband and I were sent for genetic testing. Mine came back Delta F508 and his clear. They said "86% certain that he is not a carrier of CF mutation, however their tests do not check for all mutations." We were told she's then a carrier of CF gene and to inform her later in life of this.
Fast forward 4.5 years, now living in New Zealand, eldest daughter being unwell for 18mths (coughing continually, backwards and forwards to Drs with various reasons from viral to asthma and then continuous weight loss an energy) she was hospitalised within an hour of specialist paediatric appointment. A week later CF diagnosis and husband's gene mutation identified R560T. Took nearly losing our daughter to get accurate diagnosis. 2013...Our eldest daughter is now almost 8years old with FEV1 95% as of yesterday! Gains weight but gains height equally as fast effecting BMI...other side of genetic coin! (Youngest daughter was born before sister's diagnosis and doesn't have CF. Unsure if she is a carrier as they won't disclose that until she is older and wants to make that decision herself!)
Best wishes to you and your friend
M
MellyCorv
Guest
Hi I am new to this. I am a mom of 2 kids who have had their share of issues. Long story short I am a carrier of CF but said my husband is not. Can they be wrong about his testing? My son who is 3 has been ill more often than not since 5 moths old and even in utero had growth issues. He is constantly severely congested with thick green/brown mucus that causes this awful wet chronic cough. He will have fits lasting minutes. And its very often. Weve tried everything adenoids removed, flonase, nebulizers, inhalers, antibiotics, acid reflux meds, allergy tests negative, sweat test was negative. He has soft foul smelling stools. His little sister has had failure to thrive, feeding tube, fat in stool and malabsorption. She still cannot gain weight and eats a lot but as soon as she eats it's like she doesnt digest properly and her stools are very greasy. Our ENT just did a cilia test but takes a month to get results but strongly suggests genetic testing for CF because he is convinced thats what it is. Anyone have a similar issue. Waiting to see geneticist it isnt until 4/30/15. Im desperate to help my babies!
Aboveallislove
Super Moderator
Hey mom,
I am sorry for all the worry. Re your husband: You need to know how many CF mutations they tested for. There are around 2000 but usually they only test for 30 or 100. I think your best bet is to have a full genetic test down on your youngest and if she is positive for 2 mutations then you can back into it that your husband has and your other child might. Also, did your son have his sweat test at an accredited CF center? It is possible to have 2 CF causing mutations and a negative sweat test, but many doctors will conclude not CF once a sweat test comes back negative, which is why I think trying to figure out with your daughter might make more sense. Good luck.
I am sorry for all the worry. Re your husband: You need to know how many CF mutations they tested for. There are around 2000 but usually they only test for 30 or 100. I think your best bet is to have a full genetic test down on your youngest and if she is positive for 2 mutations then you can back into it that your husband has and your other child might. Also, did your son have his sweat test at an accredited CF center? It is possible to have 2 CF causing mutations and a negative sweat test, but many doctors will conclude not CF once a sweat test comes back negative, which is why I think trying to figure out with your daughter might make more sense. Good luck.
There is an individual on this site (LouLou) who has CF, her husband went through carrier testing, though not sure how many mutations he was tested for, but I believe they were told he wasn't a carrier based on those results. They went through additional testing after their son was born just to make sure and extensive genetic testing did show their child has cf.
M
MellyCorv
Guest
Thanks for the reply. I am not sure if the place I went to is accredited. It was not at a "CF center" but one doctor said he definitely does not have CF because of negative sweat test but the ENT just told us that more and more sweat tests are negative in a person with atypical CF? I guess hes implying my son could have atypical CF. When we see the geneticist do i request a specific test?
DS had basic genetic testing via the Mayo Clinic shortly after he was born. I believe they tested for about 100 mutations (most common)--- there are over 2000 mutations for CF. He was given a sweat test at an accredited cf facility. His was a normal 32. Blood tests showed DDF508 = CF
I found out during prenatal screening when I was pregnant with my second that I carry df508 so my husband was tested with a larger panel of genes and find that he carries a very rare mutation of "varying consequence'" G2069R. My son passed his newborn screen but we had genetic testing done and he did inherit both genes. He passed his first sweat test last month so he's been diagnosed CRMS and we are under clinic care - basically watching and waiting to see if symptoms develop. There are so many possible scenarios. Just thought I would share mine. With our situation I just realize how possible it would have been for our son to not have been caught if my husband hadn't been checked for rare mutations. If you believe your husband may not have been checked for all possible mutations I'd start there.. See if you can get a complete panel done on your child. Good luck & best wishes!!
M
MellyCorv
Guest
Thank you so much for the info! I have to find out how many mutations he was tested for I think it was the most common ones because at the time he did not have health insurance and the test was only a couple hundred dollars. I cant imagine an extensive test being that cheap. I will find out for sure and get the proper testing for my son asap! Every doctor we see always says "and hes been tested for CF?" And when I say his sweat test was negative they are shocked.
Aboveallislove
Super Moderator
Your husband was definitely not tested for the full range of mutations as that test costs a couple thousand dollars. I believe it is called an Ambry screen, but basically you want them to test for all mutations. It can take a couple of months. If it wasn't an accredited CF center, then I wouldn't treat the results of the sweat test as "real" because it is a highly specialized test that some can't do right. And there are some who have a negative sweat test but have two CF mutations. Hang in there mom. Maybe while they are running a full screen your doctor can have your daughter referred for testing at an accredited CF center and then your son after.