Worried Mommy of 3 week old

WorriedMommy

New member
Hi everyone...I am new to this website (and to CF) and had some
questions...<br>
<br>
My daughter Sarah is 3 wks old.  We were contacted for CF
testing when her newborn screen came back with 1 CF gene.  So
far we have done 2 sets of sweat tests.  The first sweat test
had results of 6 and 29 (they did 2 tests at the same time to
verify results).  Because the results differed dramatically
they wanted to do the sweat test again.  They did, this time
with 32 and 33 results.  The literature we were given about CF
said that 40-60 was borderline, 60 + was positive for CF.  But
the doctor was concerned with the 32/33 results and ordered full
blood DNA tests (to test for all 1000+ CF mutations).  Did
anyone else's daughter or son get diagnosed with CF with 30
something sweat test numbers.  Am I right to be worried, or is
the doctor just being on the safe side to do additional testing?
 If she is diagnosed with CF, does a 30 something number mean
that her CF will be less severe?<br>
<br>
Sarah was born weighing 9 lbs 6 ozs (a lot I know) and she
weighs 10 lbs 6 ozs now...so her weight gain is great.  I hear
her kind of wheezing sometimes when she breathes, but this might
just be me being paranoid. Can you have CF and have good
weight gain?  Her stools look normal to me...<br>
<br>
I just want to prepare myself if she is showing signs or maybe
relieve some anxiety (from parents who know the
signs/symptoms) since I have 4-6 weeks to wait for the test
results.  Sorry for the long post, but I am a worried
mommy.<br>
<br>
Barbara<br>
Mother to 2 (Abigail 3 yrs old, not CF tested///Sarah 3 wks old, CF
carrier/maybe CF)
 
M

Mommafirst

Guest
Hi Barbara,<br>
<br>
I know how scared you are, it wasn't that long ago that I was in
your place.  Right now there is nothing you are saying that is
definitely CF, but I'm glad to hear your pedi is aggressively
trying to rule it all out.  From my understanding, there are
some diagnosed with CF with totally normal sweat tests, especially
when a baby is so young and sweat is hard to come by.  So that
is probably why they want to run the full genetics to either rule
it out or confirm.  My daughter had a meconium plug, which is
quite often CF related, so when her sweat test came up 45 and 53,
we ran the full genetic screen.  <br>
<br>
Our results showed that my daughter is "genetically" CF,
but right now they are not considering her "clinically"
CF.  Based on her one extremely rare (but known to be
mild) mutation, they are hopeful that she may not develop
symptoms.  But she has CF and we are going to do as much
preventative care as we can as I'd rather her get care she never
needs than to have her get sick and miss having done something that
could have helped her.<br>
<br>
<br>
That being said, I guess it is possible to have normal weight gain
and still be CF.  My daughter (because she has no symptoms) is
pancreatic sufficient and thus her digestive system is working
properly.  From what I understand, this can be the case
consistent with certain mutations or it can change in time and the
pancreas can stop working properly.  <br>
<br>
<br>
I know its hard to imagine, but try your best not to spend the next
few weeks worrying over every little wheeze or cough.
 Newborns do have a lot of nasal gunk, and they get stuffy
etc. regardless of CF.    I also know the wait is
long and emotional.  Feel free to come here for support, but I
personally suggest you don't do <b>too much</b> online searching.
 There is a lot of wrong information out there, and there is
also a lot of really scary stuff to be found.  Right now your
daughter is healthy, and if she does have CF, there is plenty of
time to get all the information in bites you can chew!<br>
<br>
Best of luck -- I hope it all turns out good.  I love to hear
when testing turns out not CF, so come back and post either
way.<br>
<br>
 

Alyssa

New member
Barbara,

It is hard to wait it out, sorry you are having to go through this. It's really hard to say if they will find that other gene or not -- you just have to wait it out.

The good news is.... <b>you have and excellent doctor</b>!!! He is handling this situation exactly as it should be done -- you are very fortunate, many people don't get good answers or full genetic testing. Especially when the sweat test numbers come in under 40. <b>He is absolutely correct in wanting to follow up on this.</b> Many doctors would have just said "oh, normal sweat test number, problem solved" Like they did with my daughter! We spent 8 years thinking she had asthma only and not treating her lung infections like we should have been.

Yes, many people do have two CF genes, with sweat tests in the 30's. It's not the norm, but it does happen quite a lot.

Yes, people with pancreatic sufficient CF have normal weight gain and no digestive issues at all. I think it is something like only 20 percent of the people with CF are pancreatic sufficient, the majority are insufficient and have trouble with digestion and need to take the enzymes.

Do you know what the one gene is they found? My kids have the R117H gene and it is well known to usually produce pancreatic sufficiency.

<b>Please read my blog</b> (click on the link in my signature line) There is a lot of information in my first post about my kids, sweat test numbers and mild cases (symptoms) and such.

<b>Feel free to ask me anything</b>. You can use the private message feature of this site or just keep posting here. I try and get here almost once a day.

That is great that your daughter doesn't have any problems with her weight right now.... if she does have CF, then it is most likely pancreatic sufficient.

My kids birth weights were 8lbs 4oz and 8lbs 7oz and we have never had digestive issues and my daughter didn't start having lung issues until age 5 years.

So, yes it is possible your daughter will have two CF genes and no CF symptoms, or she could have two CF genes and some mild CF symptoms or she could be perfectly fine with one carrier gene only.

Be sure to keep us posted on what you find out and ask any more questions you want.
 

LeftY

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>WorriedMommy</b></i>Can you have CF
and have good weight gain?)</end quote></div><br>
<br>
yes, we can <img src="i/expressions/face-icon-small-smile.gif" border="0">
 

ejwiegert

New member
Heather,

Can I get you to talk to my inlaws? We are of the same mentality as you about preventative care with our Abby (diagnosed prenatally) and they just don't get why we are jumping through all of these hoops now that she is here and everything appears "fine." We are attention seeking and overreacting. Gotta love it! :)

Barbara,

Your pedi is doing the absolutely right thing in your daughter's case. I'd rather rule out all of the nasty stuff and then be able to treat for other, more common illnesses than to do it in reverse and have something bad happen later on because you didn't know.

Waiting is the hardest part. We had to wait almost 8 weeks for our CF test results from our amnio with Abby and it was terrible. I just had to keep thinking that we'd know something for sure soon. Now that Abby is here, I'm like you and listen to her breathe just to make sure it sounds normal. My fears about what to expect won't be relieved until we have our first clinic appointment...

Just keep telling yourself you'll know something soon and knowing is 1/2 the battle with CF. If you know what you are dealing with, it is much easier to move forward. Keep yourself busy, if you can and find an outlet to let out your steam regarding the wait (I know, easier said than done...I've been planning to go to the gym now for a week now that I'm feeling better, but haven't). Feel free to scream, yell, rant, and rave on here. These folks are FABULOUS and won't take it personally. What's nice to know about this bunch is they have been where you are now and you are not alone. All of the circumstances might not be exactly the same, but they know and they are all kindhearted enough to share their experiences.

Keep us posted. Dave and I will be thinking about you and your family!!

Em
 

WorriedMommy

New member
The doctor said the 1 gene they have found already was the Delta
F508 (I guess one of the more common mutations).  I don't know
anything about which mutations are common/worse/etc though.
 Is having the Delta F508 good or bad (relatively speaking of
course)?
 
M

Mommafirst

Guest
Barbara,<br>
<br>
Honestly, I think its the combination of the two together that will
give you some (but not all) the information.  The one your
daughter has is the most common and usually is pancreatic
insufficient, so if you daughter has another it is perhaps one that
is associated with sufficiency.  In the same way that a
carrier has one CF gene and one healthy gene and the healthy gene
"protects" them from getting CF symptoms, when one has a
more mild gene and a more severe one it is MORE LIKELY that the
mild one will control the symptoms.  This is not always the
case, and there are plenty of siblings that share a gene
combination and do not share the same severity of CF, so there is
still a lot unknown.<br>
<br>
<br>
Hey Em,<br>
<br>
I'll talk to your in-laws if you'll talk to mine!!!  My MIL
has yet to even acknowledge the CF to me.  She won't discuss
it at all and when my husband called her to explain that my boys
are carriers with HIS gene, she didn't understand because, "it
isn't from her side."  UGGGH  and she's a nurse she
should understand this genetics a bit better and stop placing
blame!!<br>
<br>
 

ejwiegert

New member
Delta F508 is classified as one of the most severe CF genes out there, but there are so many good treatments and since you are working on trying to eliminate a CF diagnosis, your timing for your child couldn't be better.

I agree with one of the previous posts. I researched this WAY TOO MUCH before Abby was born and before we knew what her gene combination was and it made me nuts. I was terribly depressed and over the top emotionally at times. If you MUST research, don't do random googling or the like. Search out specific places that have good info like here, cff.org, johnhopkins, mayo clinic, etc. If you have to read, read up to date stuff. Some of that stuff out there from the 80's will really drive you nuts.

From what I've learned from my daughter's diagnosis, is that USUALLY when teh Delta F508 gene is paired with another, more mild, gene, it is "good" for the individual because USUALLY the CF symptoms "default" to the more mild gene.

In my child's case, she has Delta F508 and R117H. The R117H is the milder of the two, so they are expecting possible symptoms on the mild side.

The disclaimer I have to add to my post is that:

1. CF is SO INCREDIBLY DIFFERENT with each individual it affects. There are several parents who I have emailed with who have children with the same genes as my daughter and each of them exhibitied signs and symptoms at different times and with different severity. This point was reiterated to me over and over by the wonderful people on this forum AND the staff at the CF clinic. You'll hear stories of twins with CF with the same CF genes and they are affected totally different.

2. I am not a scholar or an expert on this stuff...YET. :) I think that everyone on this forum can agree that we are all still learning, so the best thing to do is to ask questions to your doctor (as well as here) when you have access to him. We may not have the answers you are looking for, but we certainly will try to help the best way we can.

I would suggest that you go ahead and get in touch with a local CF clinic or at least contact the CFF.org. Both places have people on staff who can answer your more "scientific" questions with a lot of authority.

Before my daughter was born, I went ahead and scheduled a clinic visit to just ask questions. If it is going to be 4-6 weeks before you know anything else, you might want to contact them and just make an appointment to talk to someone there. It certainly helped me get things into perspective.

So many of us are her to help in any way we can.
 

ejwiegert

New member
Heather,

Will do. Should I take a frying pan with me? You can take one with you!

Em

Barbara,

Heather's post describes how the whole CF gene thing works better than mine does. Don't freak out when you read my post. I'm glad your child only has to have one Delta gene. I hope there isn't a 2nd CF gene! I'll keep you in my thoughts and prayers.

Em
 

Alyssa

New member
Barbara,

The others have stated things well for you -- ditto for me, yes the Delta F508 is very common, yes paired with a more mild gene, the mild one usually takes charge, yes... like Emily said in her #1 everyone is so different it is hard to say.... but after all of that.... I would have to tell you that my kids both have the same gene that Emily's daughter has DeltaF508 and R117H 7T and they are also pancreatic sufficient.

Do you know how far you are from a CFF clinic?

Hang in there and keep us posted.
 

annonymous

New member
Keep your chin up and enjoy your precious baby. I can tell that carriers CAN have elavated sweat tests, especially the DF508 carriers. It shouldn't be in the positive range, but they can be higher than you'd expect (as your daughter's was). This is hopefully the case in your situation.
 

anonymous

New member
I have a Delta F508 and a R347P. The severity of the case depend the gene combo. (FYI I a, 29 years old and chubby!)
It sounds like your doc is on his/her toes...I'll be thinking about you and your family...

Chrissy
 

melany

New member
hi barbara ,<br>
<br>
all i can say is prepare for everything.  i know how scary it
is . i just want to let u know that u are in my prayers and i hope
that all goes well for u and your daughter. and if she does have CF
just remember she is beautiful and she is all yours so love her to
last drop no matter what.  <br>
<br>
sincerely melany mother of sarena 4 1/2 months w/ CF
 
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