Waiting On A Sweat Test, Support...

timedetime

New member
Hello, everyone,

Please let me know if I am not allowed to post without a definitive diagnosis. I understand how annoying "can you diagnose my child" posts can be, so let me know if I have broken any rules. I don't want a diagnosis from this thread, just ... support, I guess.

My daughter (6 months) was born with respiratory distress. They gave her surfactant, and she was on oxygen for about 24 hours. She got better, and we went home after 4 days. We were home for 24 hours when she had a low temp (like 94 degrees low). We took her to the ER, and she was hospitalized for almost 3 weeks with what was assumed to be Group B Strep (no cultures were taken before antibiotics were given). She developed Sepsis and Pneumonia.

We finally went home. She was clearly better, but her respiratory rate remained high. It ranged anywhere from 60 - 100. It was just her "norm". We began seeing a Pulmonologist and had a CT scan. She had diffuse ground glass opacities with mosaic attenuation and consolidation (no idea what that means). But Pulm feared for Inborn Surfactant Error, so we did genetic testing for the Surfactant Mutations (B, C, and ABCA3). They were negative. He also ruled out NEHI according to the CT scan. The Pulm has diagnosed her with GERD (it is very bad), and we are waiting to see what else - just damage from the pneumonia or a chronic disease?

Fast forward to today at 6 months, she is gaining weight! She is in the 98th percentile, and her respiratory rate has improved SIGNIFICANTLY. Her oxygen is almost always at 100%, and her respiratory rate is in the normal range. However, she has some symptoms of Cystic Fibrosis that I have been paranoid about for a long time. The Pulm and Pediatrician do not think she has it but "anything is possible". The Pulm agreed to a Sweat Test in 2 weeks since I told him my concerns.

She passed the newborn screening, fyi, but they only test for 40ish here in Indiana.

Her symptoms that concern me -

She sweats ... A LOT. Her forehead is constantly salty, even when she isn't actively sweating. Her pediatrician says that's not a scientific sign, but man, she is SALTY.

She poops ... A LOT. I would say 5 times is average. Most of the time they are fine with no horrible smell, but it isn't rare for there to be mucus. I also dropped some in the toilet, and it floated. Her pediatrician says the reflux medication she is on can cause mucus.

She wrinkles SO QUICKLY in the bath. I've read about aquatic wrinkling of the palms. Am I just crazy?! Lol

She coughs often and is always congested. This could be from the GERD, or....CF?

It has just been such a whirlwind with her. We almost lost her to the infection at 1 week, and I'm so afraid that this fear will never end if she has a chronic lung disease. Even if the sweat test is negative, she will forever have weak lungs. This ordeal has made me crazy!

The symptoms are there, but there are also some explanations AND her dad had GI problems and sweats horribly (I'm sure he'd be glad I'm telling this to strangers lol).

I guess...I just need to talk to someone. I'm scared, and I feel kind of alone with this. And I have to wait 2 weeks to find out something so significant...If she does have it, will it be okay?

Thanks for letting to rant, and thank you for listening. Seriously, thanks...
 

kosdancer

Member
Hello,

It sounds like you have been through quite a lot in a very short period! I'm sorry your daughter has had such a rough start.

You aren't crazy - some of the symptoms you describe (salty forehead, wrinkling in the bath, floating stools, GERD, congestion) are all consistent with possible CF. I know it will be a rough 2 weeks waiting for these test results!

To answer your last question - yes, she will be ok! 2018 is the best year yet to be born with CF. We have come so, so far and CF is not the childhood death sentence that it was 40 years ago. I am 24 years old, graduated college and am now pursuing my Ph.D. and doing quite well. There are so many treatments available and so many on the way that the disease is truly a different ballgame than it was even 10 years ago. If she does turn out to have CF, depending on which mutation she has she may be eligible when she is a little older for some truly amazing drugs that change the game even more (I'll be happy to chat with you about them more if this ends up being relevant for you guys). I won't lie and say that it has always been easy for me - I have certainly had my share of health struggles - but like I said, 2018 is a very good time in CF.

I hope that you get to tell us in two weeks that the sweat test is negative but if things go the other way, please continue to reach out to us for questions and you're welcome to send me a direct message as well.
 

TBOCB

New member
Hi! While I can't diagnose your child, I am just offering you a little support while you are waiting... My son was diagnosed at birth from the screening and had no "symptoms" born healthy with 10 apgar score etc. We all go through this very differently. We had nothing to lead us to believe he could have CF, yet there it was in black and white. We even did a 2nd and 3rd test. Yes, he has CF. He has yet to be sick, has yet to have a cf symptom with the exception of being on a much slower growth curve than most of his peers. I do know that the symptoms you report on your daughter; sweating, excessive pooping (esp. with mucous) are often associated with cf. It sounds like you have already been through so much and I am so sorry. There are many people on this forum who can relate I am sure. Know that if she indeed has CF there is an amazing community and phenomenal doctors/nurses and centers to help your family and your daughter. I'll be thinking of her and hoping you have some resolution to your daughters health issues very shortly. Hang in there.
 

timedetime

New member
Thank you both for your replies. Her symptoms are very concerning, so I will be reassured once we have the sweat test done. We actually got the sweat test moved to TOMORROW! The original sweat test was scheduled the same day she was to have a CT scan, so she had to fast. This way, she will be fully hydrated.

If she does have it, you both have made me feel better in knowing that the medical technology has improved. I'm also happy this community exists. If she doesn't have CF, we will still be looking for other potential diseases such as Pulmonary Interstitial Glycogenosis or other disease. Lung issues will unfortunately always be apart of her life, but I just want to do everything I can to be proactive and keep her healthy.

I'll update you guys when I get the results. Thanks again, so much, for the support.
 

timedetime

New member
In case anyone is interested, we had the sweat test at an accredited CF Clinic.

They were able to collect A LOT of sweat. The levels were 10mmol on one arm and <10 mmol on the other. The pediatrician confirmed she does not have Cystic Fibrosis. She is just a sweaty, poop monster.

Thank you to everyone for the support. Best wishes, and thank you again.
 
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jaimers

Super Moderator
I'm glad to hear that the sweat tests results were negative! I know that doesn't resolve her symptoms, but I hope it gives you some peace.
 
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