repeat sweat test intermediate

[panderson1215]

I am new to this website and I am a mother of a 7 week old baby girl that has not been diagnosed with CF but we have been going through lots of testing. This all started when her newborn screen came back abnormal so we were sent for a sweat test. her first sweat test was at 4 weeks old and was 42. we just had her repeat sweat test and it came back 55/58 at 7 weeks old. also, she has been identified to have one copy of the deltaf508 gene but has not had the full genetic screening. I know this young symptoms don't always show and she has had none what so ever and she is gaining weight great( also no CF history in the family). my question is do intermediate sweat tests always mean some case of CF or what else could it mean? I'm also just looking for support, as a new mom I am in pieces right now. I never imagined this happening

 

[Ratatosk]

Could be a couple factors involved regarding the results... Was the sweat test done at an accredited CF Facility? The other -- with teeny tiny babies it's difficult to get a good sample. DS had a sweat test as a baby and it was a normal 32; however, today based on the amount of salt he sweats out -- crystals sometimes form at his hairline and my lips taste salty when I kiss him --- the numbers would be very significant. He was diagnosed due to a bowel obstruction caused by meconium ileus and a doctor ordered a basic genetic blood test. Other than sinus issues and a few cultures for CF bugs, he really didn't have any respiratory related symptoms. Most of his were digestive.

 

[panderson1215]

the tests were done at Arnold Palmer Childrens Hospital in Orlando, FL which is accredited. also, she never had any problem with bowel movements or weight gain and I literally lick my child and never taste salt. I don't want to be in denial but I don't want to lose hope either. Like I said 1 gene has been identified in her but the next step im guessing is to do a full genetic screen. I had a basic genetic test done on myself and nothing showed up so if I gave her a gene it would be a rare one. she showed one copy of deltaf508 which would mean my husband carried that. I'm just so sad, frustrated, and confused

 

[Printer]

An accredited hospital is one thing a accredited CF Center is another. For example, Massachusetts General Hospital is an Accredited CF Center. There are more than 2000 Doctors on staff but only 6 are CF Specialists.

That being said, the end result may be, like your husband, she may only be a carrier.

Bill

 

[panderson1215]

I believe it is an accredited center but she only had the sweat test done by the nurses there. The genetic testing from the newborn screen was done at an accredited center called Nemours. They are having us meet with a pulmonologist next and im guessing he will order more testing but im not sure.Is it a general rule that sweat test always raise with age or do they ever get lower?

 

[Printer]

Nemours is an ACCREDITED CF CENTER. In Jacksonville, Bonnie B. Hudak, MD, is the Director. In Pensacola, Okan Eliemir, MD, is the Director. The nurse who administered the sweat test would have been highly skilled(and trained) in doing that.

Good luck
Bill

 

[Printer]

Arnold Palmer is also accredited.

 

[Ratatosk]

There are over 1500 cf mutations. DS had a basic test at Mayo which only tested for 32 of the most common mutations. IMO push for additional genetic testing for peace of mind, to get answers. It very well could be your child is just a carrier.