Questions about CF in an infant...

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Ratatosk

Administrator
Staff member
Any doctor can order genetic testing. May be issues getting insurance to cover it, which is why they usually start with a sweat test and a basic panel. A friend of mine, whose daughter has cf, encouraged her family to get testing as a number of them were getting ready to start families. Only one person had an issue getting insurance to cover it and she was beyond child bearing years. DH's cousin on the other hand contacted our pediatrician, who is also head of the local cf clinic and was told she needed to think long and hard as to why she wanted testing -- costs, getting a child labeled as having a pre-existing condition (at the time).

DS was born with a bowel obstruction and had to have surgery due to meconium ileus. The neonatologist at our local hospital suspected cf and had a blood test done at Mayo for the most common mutations -- it came back as positive for dd f508. Then for some reason, someone at the CF hospital ordered a sweat test -- it came back as a normal 32.
 
D

Dhobs

Guest
My daughter was born with meconium ileus so they ordered genetic testing right off. The hospital still did a sweat test but said babies that young - about 1 week old - don't really sweat, so they didn't really expect much from it. Seemed odd but it didn't hurt and was covered by insurance. It didn't tell us anything one way or another.

After a few days, I started noticing that she appeared to have what I thought was severe diaper rash. Nothing was helping and it was only getting worse. I brought it up to the doctor and he started her on pancreatic enzymes and she's been fine since. Her stools were very smelly and greasy and runny - I don't think floating them would've been an option had I known about that.

I completely understand how you feel, the not knowing. The first few days (week...? It all ran together) of our baby's life we were in the same position. And it was admittedly hard getting the diagnosis. It sounds like you are taking the right approach - ditch any pediatrician you don't love, get a sweat test and hopefully genetic testing done.
 
T

taralmc

New member
Hi Liz,
I am sorry for the worry that you are experiencing! I have an 18 month old who has the genotype for CF (2 CF genes) but does have the phenotype (meaning she does not have CF symptoms and God willing it stays that way). I think the screening tests done in the hospital may vary from state to state, but where I am I think they check for levels of something called IRT and if that is abnormal then they run genetic testing for the most common 32 genetic mutations. In my daughter’s case, her IRT level was inconclusive, so they ran the genetic screening & found that she had 1 of the common mutations. We were told to call a CF Certified Center in our area to get a sweat test to see if she was just a carrier or if she had CF. A sweat test is considered the “Gold Standard” for diagnosis. I am in the Philadelphia metro area and when I called St Chris’s Hospital for children to set up an infant sweat test they got me an appointment for 2 days later! So I say call your pediatrician and say you want to get the sweat test done immediately and not wait. I do not recommend having this done at your pediatrician’s office. Go to a CF Certified Center. They will also have genetic counselors there to explain things to you and de-mystify CF. My situation is odd, as my daughter passed the sweat test. We got genetic testing done and it turns out that I have a very rare CF mutation that I passed on to my daughter – so she does in fact have 2 CF mutations although she passed the sweat test. Lots of uncertainty about what that means for possible symptoms in the future – but that is a whole other topic. My recommendation to you is don’t wait, get the sweat test. Then either you will be relieved or the experts at the CF center will walk you through the next steps to keep your baby healthy! Good luck!
 
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Nikole

New member
I have a daughter with CF age 7 and a son with CF, age 1. Both of them had bowel obstructions at birth. They both passed the newborn screening in two separate states, and both of their mutations were on the IRT panel. My daughter had two screenings in Oklahoma and both revealed no cf. My sons revealed no cf in Kansas. Their mutations are DF508 and 711+1G>T. They are both pancreatic insufficient. They are doing well! Best of luck to you. Keep in mind, some babies can just be small. I have four kids and two do not have cf, but my two year old non CFer is small.
 
A

Aboveallislove

Super Moderator
Bill I agree re it taking two months but our cf center won't schedule without a primary care doctor ordering so with her ped wanting to wait a month to decide whether to order you are talking two months. I think the best is to call and get current doctor to order sweat test, but also to check poop to see if it floats. That is a sure fire way to know if there is malabsorption. If there is more ammo to insist she get in now. If it sinks, then less worry for the mom while waiting to get in. But the current doctors approach of flagging it but waiting a month to order sweet test makes no sense. If its a red flag you don't putz around
 
M

Meabtahi

Guest
I have recently gone through a bunch of testing with my daughter so can hopefully shed a little light. Neither my husband or myself have cf in our families, a lot of first time diagnosis does not so don't let that put you in the clear. My daughter never tested positive in any of her screens - she tested indeterminate. Our state also has some conservative cut offs so she actually would have tested normal in some states. We ordered a sweat test and this also came back inconclusive so know that is possible. I believe the sweat test was around $500 before insurance, a far less expensive option than genetic testing. However, like others have mentioned, genetic testing is the only way to know 100% even though the sweat test is considered the gold standard. The full genetic test is around $4500 before insurance. I would make sure your dr will write a letter stating the necessity of the testing to your insurance. My daughter has one common mutation and one mild mutation which caused her tests to be in the middle. They are not calling her cf now but crms. However, she will be followed by an approved cf clinic in case any problems should arise. Cf is a very complicated disease with so many combinations and outcomes. It's possible your baby may be in the grey zone like my daughter. Maybe see if you can find out what her nb screen results were and get a sweat test to start. This may help you get the genetic sequencing covered by insurance.
 
P

Printer

Active member
Love:

I agree. In my clinic you can call direct. She should contact her pead and/or primary for a referral. If they won't give one, contact the CF Clinic and say Dr Pead said I should call for an appt.

Bill
 
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Aboveallislove

Super Moderator
I'm kinda baffled by something and I mean this as a sincere question...why would you push for genetic testing given facts here if sweat test is normal? There are no other signs of cf. I'd definitely do sweat est and female elasticity and if the latter indicated a concern then yes, re the genetic test. But if not, it doesn't seem there are any remaining cf red flags.

For Liz...are you and or your husband smaller? If so especially given birth weight it seems small might be her normal. But of course pursue to make sure no medical reasons for it. God luck
 
W

wvliz07

Guest
Thanks, I read through all the replies. We have an appointment tomorrow with a new pediatrician. I will definitely check her stool to see if it floats and ask about fecal elasticity. We will most likely ask to start with a sweat test but especially if we can persuade the insurance to cover it, possibly further testing too. My gut tells me that it is not CF, but I know it's possible and I don't want to wait until she is showing other signs. To answer someone's question, my husband and I are not small people by any means but we both have one thin parent and my grandmother was small, although I don't believe any of them were "abnormally" small.

Thanks you all for replying and leaving advice, it's really helpful to hear from people who have been there. I will post back tomorrow after her appointment.
 
P

Printer

Active member
Liz:

I feel like I'm talking to the wall. Your child needs to be seen at an APPROVED CF CLINIC by a CF SPECIALIST. The Sweat Test given by non CF Specialists is not as thorough as that given in a CF Clinic.

Good luck,
Bill
 
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Aboveallislove

Super Moderator
Bill, I'm virtually positive she means to get the new ped to refer or arrange the sweat test. Her old ped wanted to wait a month before doing the sweat test. So it makes perfect sense to get a new ped to order that ASAP. But as you said at a cf approved center with a cf specialist, but unfortunately most specialists won't see your little ones without your ped arranging.
 
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Nikole

New member
Question for 2005CFmom..... If you don't mind me asking, what are your daughters mutations? Going 8 yrs without treatments is really good. Just curious
 
2

2005CFmom

Super Moderator
Nikole,
I don't mind at all. She actually is double Df508.

Looking back, she always did show symptoms but they didn't trigger any concerns because she just took after her dad. Round body, skinny arms...my husband's brother called him an olive with 4 toothpicks sticking. He was always the smallest of his brothers, although it was said he would win any eating contest (and he didn't even know it was a contest) Salty rings on hats...check.

After she was diagnosed my husband went through testing because in addition to the above, he started having breathing issues. He was eventually diagnosed with bronchiectasis. Passed the sweat test, and only one mutation found on the gene sequencing test. But he is one pretty much the same treatment program as my daughter.
 
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