Niece having sweat test today..just wondering

[cc53068]

My niece is about 5 weeks old. My sister is a carrier, as am I, of CF. Two of my three children have had negative sweat tests. My daughter had an echogenic bowel on an ultrasound that was no longer detectable after birth. This is what prompted her testing. My son is failure to thrive and he had a sweat test at one year due to lack of growth.

In my sister's case, the baby's newborn screening tests came back and were flagged. My sister does not ask any questions and therefore does not know what the screening showed ( frustrating to say the least). It is my understanding that they test the IRT protein and then if that is elevated, they test for DNA markers. I am then assuming that they must have found at least one CF gene, but I am wondering if it is possible that they have found two. We ( yes, I am taking her and the baby and her husband is staying home to enjoy his day off. Don't ask,lol) are going to the same hospital that I took my kids to. We had the sweat test and then had to wait until the following day for results. They are telling her that their will be genetic counseling today and that she will have the results of the sweat test before she goes home. I am so worried for my niece, but my sister is not even blinking an eye. I am not sure if she even understands what the ramifications of a CF diagnosis are. Are the chances of having CF more likely if the newborn screening comes back showing a need for further testing? I just have a bad feeling, but I am hoping for the best. The baby tends to be fussy, she passes very smelly gas like crazy. At one point she went a week without pooping ( sister did not call the doctor) and since then she has gone up to 3 days without having a bm. My sister keeps telling me that the baby's bm's smell "toxic" and that her breath is just as bad. Again, I don't think she has a clue that these could be indicative of CF because I truly don't even think she asked the doctor what CF is and I have not tld her because I don't want to panic here. Any thoughts would be appreciated. Thanks!

 

[anonymous]

It is to my understanding that the newborn screening must have put up a red flag and that her chance of having CF is definately higher. That would be the reason for the further testing that you will be attending today. I have two daughters, ages 8 and 6, who both have CF. I also have a 14 year old nephew with CF. My older daughter was diagnosed at 14 months old. I obviously knew a lot about CF because of my nephew. I had been volunteering for years for our local Cystic Fibrosis Foundation in honor of him. Little did I expect to have a CF child (never the less two). I was in 100% denial when the hospital suggested that she be tested for CF after having a rectal prolapse. I insisted that there was no possible way. I was 5 months pregnant with my second daughter at this time. I already was so familiar with CF, and there was no way it could happen to my child. At least that was what I was thinking. And the news of the sweat test being positive just blew me away. I lost it. I was in comlete denial. When my second daughter was born, and tested at birth it came back that she was a carrier. The genetic test didn't test for all the mutations, only about 12. But the sweat test at 1 month came back positive (which I knew in my heart was accurate, that is why I pushed to have her tested more than that originally done at birth). And a more comprehensive test showed both genes. And I was still in complete shock with the news of the second. I just cried for hours upon hours. It was at all no easier getting a positive result, even though I knew in my heart that she had CF.

I guess what I am trying to say in a long story, is that she may just be having a hard time admitting that something could be wrong with her perfect baby. I was crushed with the diagnosis, even with it being in my family with my nephew for 8 years prior to my duaghter being born. And I even helped with fund raising for CF prior to having my own children. Give her time, and just being there for her, no matter the outcome, is all you can do. At some point, if the results are positive, she will need a shoulder to cry on and you can be there for her.

Good luck and best wished for a negative result!!
Tammy

 

[anonymous]

Sweat tests are not always an indicator of cf which many who have cf can testify to. Have your niece, your daughter and your son tested with one of the latest and extensive cf mutation blood screening tests such as offered by Ambry or Quest Diagnostics. Do not fear the cf diagnosis. It is far more dangerous not to receive proper treatment early. Good Luck.

 

[cc53068]

Tammy,
Thanks for the thoughtful words. I know that she must be in some sort of denial, but to make a long story short, her and her husband are very "young of the mind". Like I said, he is not even going to the testing or counseling today, which makes no sense to me.They are in their 30's but lack a lot of life experiences and tend to be very child-like themselves. I feel that they are not fully equipped to deal with a healthy baby, let alone one with a CF diagnosis. I am just trying to quietly support her at this point, but I just don't know how they will handle it. I was hoping that someone would say that the newborn screening testing did not mean anything significant, but I know that it does.

As an aside, if my niece comes back with a positive sweat test, do you think there would be any need to re-test my own children? My daughter has no symptoms that would make me think CF, but my son has other issues. He is failure to thrive ( 3 years old now, no known reason for his FTT), and has had a feeding tube since he was two.He has had two endoscopies and they both came back clean. He eats very little orally. We have had him on Miralax, Fletcher's Castoria and now fiber to help keep his bowels moving. He tends to withhold and there has been stool present on several abdomen x-rays shwoing that he is retaining. What are the chances of a false negative with a sweat test?

I am sure that your children are beautiful and that God sent them to you for a reason. It must be challenging to deal with two children who have CF on a daily basis. Sometimes just dealing with a g-tube and a child who does not eat is more than enough for me! I never knew what CF was until I was told that my children could have it. I then had to educated myself about the disease. I have been lucky, but I think often of those who were not as fortunate.

 

[miesl]

There are a number of posters on this site that had negative sweat tests, but positive genetic screenings.

False negatives are very possible with sweat tests. Since your son has digestive problems, and you know you are a carrier, I would also recommend that he have blood tests done. Depending on his results, your daughter should be tested as well (even if they are CF-free, knowing their carrier status is important). There are a number of tests available, and they screen for different numbers of mutations. The most comprehensive of these is the one from Quest Diagnostics.

 

[anonymous]

I completely agree that you should have your own son retested, no matter what the outcome is of your neice. The sweat test is not 100% accurate if comes back negative. Many mutations will not give a positive sweat test. Push to have him tested, as mentioned above, with the one from Quest. It is important to have the comprehensive test done, as in my case with my second daughter. She was first said to be only a carrier, and had I not taken her with me to CF clinic and her doctor request we sweat test her, who knows when she would had been diagnosed. The sooner the better. In our case, we do get a positive sweat test. But after seeing that one of the mutations was not tested for on my younger daughter, I knew immediately that the test would be positive before it was even done. And I do think it is very important to know what mutations are carried so that other family members can be tested when family planning.

There is another board I belong to where there are many young parents dealing with CF. I do find it sad that the dad isn't going. My husband is the more emotional one of the two of us, and for anything to possibly be wrong with his babies just killed him. If the results are positive for your neice, they will need a lot of education to keep her healthy. It is vital for her future. And I do hope they have a strong marriage, even if immature. Cystic Fibrosis is definately a family disease because it takes the parents to keep the child healthy. Normally it falls in the hands of mom, but can be stressful for all.

Your family is in our prayers, and please let us know the outcome. And please push to have your soon genetically screened! You sound like a wonderful mom and have already had your plate full. But it really needs to be ruled out.

Tammy

 

[Ratatosk]

DS passed his sweat test with flying colors. Not borderline, was normal -- 32 I believe. However, he was born with a bowel obstruction caused by meconium illeus, his poo is liquid and smells like feta cheese without enzymes and his genetic blood test results showed homozygous delta f508. Plus he tastes rather salty.

A lady who works in the same building as I do has a son who is below the charts in terms of height and weight, has frequent infections, bowel problems, asthma, digestive problems. She and her husband took the son to a pediatrician --- whose husband also happens to be the peds pulmonologist for the local CF center --- and when the doctor suggested their son be tested for "cerebral fibrosis" she and her husband stormed out of the doctors office. They were furious! How DARE she suggest their son is sick. They haven't been back. Meanwhile both their children have had staph infections, pneumonia several times this past year.... Maybe their child(ren) don't have CF, but they're in denial and refuse to even have their children tested to rule it out.

liza mom to an almost 3 year old wcf

 

[Scarlett81]

Original poster:

It's so weird, something similar has been on my mind lately with a niece of mine as well.
In fact when I saw the topic "Niece having sweat test...."-my heart stopped and I thought OMG one of my brothers or sisters isn't thinking the same thing as me and they came here to post, are they?!
In my case the baby is my sister's child, almost 3 weeks old. I have cf, and have another cousin with cf. I have suspicions about it, and when I heard that the baby was born with Meconium Illeus, those suspicions got stronger.
I don't have a relationship with my sister to the point where I can say-please get a sweat test, or genetic test. Anyway-she's not dumb, she knows full well about CF, the whole drill. I just hope that she's not the denial type-cause I think some are in my family.
But, yes it is EXTREMELY frustrating.
I hope you get answers, and some relief. Other than that, I'm in the same boat, I'm very worried about this.

 

[ReneeP]

Hi.. I would like to say "ditto" to what everyone else said. I would definatly recommend the genetic testing for your children as well as your sisters (if the sweat test is negative).

Also, I am very curious to find out what happened today? How did things go??? Did she get the results?