Referral for CF Testing

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ejwiegert

New member
Our pediatrician doesn't feel like Lucy (our 22 month old) is exhibiting enough symptoms to be tested for CF. She has week long bouts of diahrreah (sp) off and on since late March. She lost some weight, but has been maintaing her weight now. She claims to be hungry all of the time. Now that we know that Abby (due in August) has CF, I feel like I am being paranoid about Lucy.

Can the doctor/genetic counselor have the testing done for Lucy or refer us to someone who would since our pediatrician isn't motivated to move in that direction? I think I am just to the point where I need to know for my sake. The thought of Lucy having CF really breaks my heart and I feel terrible knowing that if she does, we could have known sooner had we known about the screening test when we were pregnant with her.

Advice, thoughts, ideas, guidance, and/or help for a worried Mama... All this stress on me can't be good for Abby, Lucy, or my marriage!

Emily
 
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LisaV

New member
I would talk to the genetic counselor.

I absolutely understand why you want her tested. I would be crazed if I didn't know for sure one way or another for each of my kids.

I hope/think the genetic counselor can help you. Some kids really are asumptomatic when their young (which you know and is why you are crazed). And I think good genetic counselors really do also consider the effect of diagnosis and uncertainty of diagnosis on the whole family and the marriage.

Good luck.
Let us know how it works out?
 
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anonymous

New member
My son was sweat tested when he was 4 because we found out my husband and I were carriers for CF when i was pregnant with my daughter. My son had absolutely no symptoms of CF, they(the CF center/genetic counselor) said they always err on the side of caution to have the sweat test. I see no reason why a resonable doctor would not refer your daughter for a sweat test. It will put your mind at ease to know for sure. Be assertive and tell them you need to have your daughter tested for peace of mind.

REbecca(mom to sammy 7 no CF and Maggie 3 with CF)
 
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julie

New member
Emily, no offens to your pediatrician, but I have to say it. Another "know it all doctor" willing to risk the health of a child for the sake of his reputation and knowledge.

Ok. What kind of insurance do you have, is it a PPO or an HMO? If you need a referral for Lucy to see the genetic counselor it could pose a problem for insurance. But if you have a PPO where you can go to who you want and what specialists you want, it isn't a problem. If you do have an HMO, you might talk to the genetic counselor and see if they'd be willing to talk to the pediatrician and ask for him to make the referral.

Over the years on this board, and hearing other's stories, it's amazing how many times this happens because the doctor "doesn't feel testing is warranted" or whatever the case may be. You are RIGHT to want your daughter tested and NO doctor should stand in the way of that!!!
 
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Emily65Roses

New member
I'd say get her tested on the symptoms alone... but she has a sister coming that has CF? Yeah, get her tested. I have to agree with Julie, sounds like your doc is a full of himself pompous fill in the blank.
 
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anonymous

New member
Hi Emily,

Are you affiliated with a CF center yet? OR Have you chosen the CF center that your baby will attend in the future? If you have, I'm sure that they will refer your other child for a sweat test.

I know about the peace of mind issue. My youngest daughter has CF, and soon after her diagnosis the CF team strongly suggested that my older two daughters take a sweat test. Both tested negative.

However, they both have some issues with sinus and asthma and even with the negative sweat tests I still did not have a complete peace of mind. So recently, I took them both in for the blood test. Now I finally cleaned those nagging thoughts and doubts out of my head. It has really lowered my stress level.

Good Luck!
Maria (mom to Sami. three years old w/cf)
 
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anonymous

New member
After my son was diagnosed at 2 weeks of age we had my then 5 year old tested. He had always been tall for his age but had also had pneumonia several times. So the docs suggested testing him. He was thankfully negative. We have two other children who have not been tested though. They are ages 15 and 10. They have never had any symptoms of cf so we have not had them tested. I would like to get genetic testing done on them though just so they will know if they are carriers or not. So when they are old enough to start their own families they will know what they are facing. Anyway if I were you I would have your daughter tested mainly because it sounds like she has a few symptoms. But remember so did my son and he tested negative. We had his tonsils removed about a year ago and he has not been sick since!!
 
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anonymous

New member
We just had our older two kids tested (our youngest has CF). Neither had any symptoms but just beacuse of the fact that we are carriers the CF center strongly suggested that we get them tested. We opted not to do the sweat test and went right for genetic testing. They do not have CF but both are carriers. Now I can put my mind at ease. It was always in the back of my mind that they could have CF and just no symptoms yet.

Nicole
 
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Alyssa

New member
I always recommend full genetic testing -- most docs and parents I've spoken to around here always say siblings should always be tested -- symptoms or not.

You can read the full story on my blog about my kids, but my son had/has very little/no symptoms and was only tested because his sister was diagnosed. He does have two CF genes.

I think it is very reasonable for you to request testing, I am surprised your pediatrician is not recommending it.
 
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CFHockeyMom

New member
Emily,

When Sean was diagnosed, our CF doc immeadiately sweat tested our older son. The test was very negative. We were satisfied and went on our way. In spite of the negative sweat test, over the next 8 years , we had some indicators that our older son could be CF positive. I was worried about being labelled as paranoid but came here for advice. If you search on my user name, you'll find the posts. Anyway, we discussed our concerns with our CF doc and she did a second sweat test and ordered the genetic test. It turned out that Neil isn't even a carrier just freakishly thin with allergies.

Anyway, if your ped won't do it for you, which is totally absurd, I'm sure your CF doc will.

You're not being paranoid, it's just something you need set straight in your head and until you get a gene test on Lucy, you'll always wonder.
 
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