Newborn Screening- NERVOUS WRECK PLEASE HELP!

[triples15]

You keep referencing the doctors office and sweat tests and doctors saying she doesn't have cf based on that... Is this an accredited cf clinic, as not all sweat tests are accurate..... IMO, based on the pneumonia, positive nb screening listing two common cf mutations, I'd err on the side of caution and continue cpt. But that's just me.

I definitely second Liza's opinion. I've gotta be honest, I'm a little confused as to why they would be stopping all this now, given the fact she currently has pneumonia. Seems really counter-intuitive to me. Even if she does not have CF, a child with respiratory problems and pneumonia certainly could benefit from nebs and CPT. When my daughter (no CF) had pneumonia when she was about 18 months old, her doctor had her on 4 times a day breathing treatments (albuterol), and I would throw in a little CPT for good measure.

I'm also a little surprised that she is symptomatic, and has the genetics that show CF, yet they are not treating her until they can definitively say it is not CF. Usually the genetics trump the sweat test. There are many people on here (Liza's son and JohnO are a couple that come to mind) with negative, and even pretty low sweat tests that have CF.

I do understand that they are saying both mutations may be on the same allele, which is why they say she may not have CF. Even so, I would treat her as if it is CF until this can be proven and she is symptom free.

All this being said, I'm clearly not a doctor, just a CF patient who has been around for many years!

Take care and keep advocating for your little one!!

Autumn 34 w/cf

 

[Worriedmotherof3]

Yes this is an accredited cf clinic it is Riley Children's Hospital where I got all of her sweat testing done, my pediatrician caught her pneumonia at a normal drs visit. We are doing blood work to see if she does indeed have the two mutations to retest her and if she comes back positive and has the two mutations which at this point would either be on the same allele which would make her a carrier or it would be a polymorph which would still just make her a carrier. We are all going to keep an eye on this whole situation she is now on a higher calorie formula due to a slow in weight gain but I follow up with just my dr on the 7th to see her weight gain and I follow up with the cf clinic on the 25th. She was in the hospital and her lungs are clear, she is gaining weight, ad we are keeping a close eye on her. The director of the cf clinic there told me to take her off the enzymes and off the vitamin, since her sweat test is negative and to keep a close eye on her and if I have concerns I am to call them. What I am worried about is this could be a mix up because the hospital I had her at is not the best hospital and there were a lot of babies born that night and there was a woman who I am pretty sure was a carrier of cf on the floor it makes me worry there is a baby out there that could have cf and not know it. But also I feel like I am going through the proper steps, my cf clinic is a very good clinic and since I have taken her off the enzymes and vitamin she is eating better.

 

[Mama2Five]

there was a woman who I am pretty sure was a carrier of cf on the floor

??????????????????

 

[Worriedmotherof3]

There was a woman that gave birth the same time I did who I am pretty sure was a carrier of cf.I know for a fact I got tested everytime I was pregnant to see if I was a carrier if cf and it was negative. But I am waiting on the blood results and what the drs say because I am at a nation accredited cf clinic. The hospital I go to is a nationwide known hospital and the dr I have and the team I work with is a very good team we are handling this I believe the best way possible.



Also if you guys didn't know http://www.popsugar.com/moms/Baby-W...12014&em_recid=&utm_content=placement_1_title

http://en.wikipedia.org/wiki/Burkholderia_cepacia_complex

 

[Printer]

When you were tested "every time you were pregnant", how many mutations did they test for? I would also be curious as to the number of mutations that your baby was tested for.

I understand and applaud your standing up for your child.

Bill

 

[Aboveallislove]

I too am confused why they would have you stop the chest therapy given her pneumonia and also why they would definitely say not CF based on the sweat test, given the mutations. There are many cases here of those with CF with a negative sweat test. I'd love that she not have CF and pray that is the case, but because you can't undo damage, if it were me, I'd keep up with the chest therapy (even if you don't do vitamins or enzymes) until you have the genetic test. Also, I do not understand the whole didn't mutate enough. If she has the mutations you posted earlier df508 i507, that tells you that they mutated to that point and both are disease causing. I also don't see how those two could be on the same chromosome given that the mutation tells you the spot on the cftr gene the mutation interfers with and that would be saying it interfers at spot 507 and spot 508 on the same chromosome, but maybe someone better versed in that could explain.

If they are on different chromosomes, I don't see why a competent doctor would possibly say it isn't CF. I know Riley well, but wonder if the doctor has any experience/knowledge of failed sweat tests with those with CF. Personally, if the df508 and i507 are on different chromsomes, I'd get a second opinion and a second sweat test. I truly hope your answer is no CF, but if it were me, I'd want this information so I could do what was needed to keep my precious baby as healthy as can be.

 

[Worriedmotherof3]

Bill I just got my results yesterday for my CF testing while I was pregnant and they test for the 40 common mutations which they tested me for the D508 and I507 on the pregnancy screen and my results were negative. My baby was tested for 100 mutations on the newborn screen. I really think they could have messed up on my baby's blood work because there was another woman in the pregnancy wing or somehow I really think my daughter's samples got screwed up.

When you were tested "every time you were pregnant", how many mutations did they test for? I would also be curious as to the number of mutations that your baby was tested for.

I understand and applaud your standing up for your child.

Bill

 

[Worriedmotherof3]

Aboveallislove,
First of all you have been a complete angel of trying to answer my questions. I recently went to my dr's office to see if I got CF testing while I was pregnant which I did. I also got tested for the mutations they are saying she has. My results were negative. They stopped chest therapy on her because she spit up a lot when she was in the hospital. They did do it for a few days to help rid her of the pneumonia. I am going to do the chest therapy because she does go to sleep to it but if she happens to spit up on me I would probably stop doing it. The gene I guess could be a polymorph to where it mutated a little bit but not enough is how they explained it to me. To where it was mutated a little but not enough to make a complete mutation. I am keeping her very healthy. The doctor I think is pneumonial and he is very good at his job. I don't know but he is ordering blood tests to confirm everything.

 

[Printer]

Worriedmotherof3:

There are almost 2000 known mutations, any two will cause CF. You were tested for 40 and your DD was tested for 100. You do the math.

I would agree with you regarding retesting, however the test should be for a FULL CYSTIC FIBROSIS SEQUENCING.

Bill

 

[Michelle B. Reilly]

Take a deep breath first mom. My son had 2 negative sweet tests in 07/08. He grew pseudomas and had low pancreatic functions. Genetic testing only revealed one mutation. This past summer, they discovered 2nd mutation and is currently on the full CF protocol. CF is no where in our family; kinda explains super rare mutations that he has. Never lose hope! Early detection is key! Today my boy is 9 years old, 100 PFT, 18 BMI and playing baseball and basketball.

Prayer for you and your family!

 

[GlennyB]

My 6 year old has the delta f508/delta i507 combo. Her sweat test results were 138/143. She certainly presents as classic cf. This scenario with you wee person seems very unusual.