hopeful

[my3angels]

My 14-month old son is currently being tested for CF.  He
seems so normal and healthy that I can hardly believe he's actually
being tested for an illness that could shorten his life.
 Every few months he develops a cough, wheezing, and what
sounds like mucous in his throat.  I am VERY worried.  I
have been on pins and needles since the day his pediatrician told
me he wanted to test him for CF, which was on Thursday 08/10/06.
 His blood was drawn on Friday 08/11.  The lab told me it
will take a couple of days for the results.  His
pediatrician's office told me the results don't come back for a
week or maybe two.  I know there are different ways to
determine if one has CF.  Does anyone recall how long it took
for their blood results to come back?  My husband and I are
having a difficult time eating, sleeping, and just concentrating.
 For those of you that read this, please pray for my son and
our family that the results come back negative.  I am very
hopeful that they will!

 

[Giggles]

My understanding that the best test to show if a child has CF is through a sweat test. Have you requested this??? Best of luck to you but do know it is not a death sentence like it was when I was born. There are drugs, therapies etc. to prolong one's life. You can find out alot about CF from a CF clinic and this website but lets hope you do not have to go down that path!!!

Best of luck to you and yours!

Jennifer 34 years old with Cf and Cfrd

 

[JazzysMom]

I am rather surprised that they bypassed the sweat test & went straight to the genetic testing. This is good tho its agonizing to wait for the results. The blood work takes quite a while. Its good to know what mutations. The sweat test use to be the gold standard for CF testing. Over the years since there is genetic blood work now the sweat test has become not quite as accurate. Its still the cheaper so still the first choice USUALLY! Different things can cause a negative sweat test or inconclusive. I realize its a lot to wrap your brain around. Let me start with.....dont focus on the what ifs. I was dx at 7 & here I am 30 years later to everyones surprise! Welcome & keep us updated!

 

[my3angels]

I haven't requested the sweat test.  After reading about it,
I'll speak to his pediatrician and see how accurate the blood test
is.  Thanks for your words of encouragement.  It is sad
to see you and so many others like you have this disease.  I
have never heard of this disease until very recently and I'm
learning so much more.  Take care!

 

[coltsfan715]

Usually the standard is sweat test then blood test I think. Normally people are diagnosed with CF after having a positive sweat test - I as diagnosed this way, but it was before blood tests were done. I had a blood test when I was about 19 or 20 or something like that. They knew I had CF and just wanted to see my mutations.

Personally if you have a good blood test run - meaning one that checks for many or all of the mutations I think it is more accurate than the sweat test. I think most of us are just surprised that the sweat test was bypassed - I don't think anyone was trying to insinuate that the blood test is less accurate.

Hope the results are favorable, but if he does come back with a CF diagnosis it is NOT a death sentence. There are so many new meds and treatments or therapies now that can help improve health and prolong life the situation for your son is great in that respect.

I hope for the best with the results. Please let us know.

Lindsey

 

[Alyssa]

Hang in there -- if you feel like it you can read my blog - the first entry has info about sweat tests vs blood test -- be sure to ask how many genes the blood test is looking for -- often times they test for just a few more common genes, but there are over 1300 genes identified now -- many people get told they do not have cf because they only tested for 89 genes, then years later find out they do have cf because then they tested for more genes. The more they test for the more expensive the test is - so many doctors start with a screening panel.

Nobody ever really wants the results to be positive, but there is an advantage to being correctly diagnosed at an early age (the correct treatments can be given and you are know what to look out for) rather than being misdiagnosed or not diagnosed because they didn't run a full genetic test or they say the sweat test is negative when it is not.

Usually the blood tests don't get back for a couple of weeks. Sweat test result (depending on the facility) can be given to you within a matter of hours. Sweat test results can be tricky too because sometimes you don't get a clear cut positive or it was not done at a certified center.

Keep us posted

 

[Mommafirst]

I am so sorry you are going through this, but I was in your shoes
just a few short weeks ago.  We started with a sweat test, as
the others have mentioned.  My daughter's results came out
inconclusive/borderline, after three tries.  Then they did a
simple CF screen (took about a week), and found just one mutation.
 Since they couldn't rule out CF from that, they did the full
Ambry test, and that took eight weeks and they did find the second
gene.  All in all, diagnosis took us almost three months and
it was agonizing.  We got our diagnosis in early July, and I
can tell you that its easier to know what you are dealing with than
all the unknowns of the testing process.  There are still a
lot of unknowns, my daughter is not showing any symptoms, yet, so
now its just watch and wait -- that is frustrating too!  Also
my oldest son is in the process of testing right now as
well.<br>
<br>
But this isn't about me, I just wanted to say that I totally
understand where you are right now, and that regardless of the
results it will get easier.  I hope your son does not have CF,
but if he does, know that he can still live a very full life and he
will be even that much more special to you!  Please post your
results either way, one of the things I notice from this and other
similar sites is that there are very few people posting that the
results came out good -- and I think those in the process of
testing need to see that too!!  I sure did!<br>
<br>
<br>
Heather<br>
mommy to Alyssa (almost 7 months w/CF)<br>
Reese (almost 3 years and a CF carrier) and<br>
Richie (five years and still CF testing)<br>

 

[thelizardqueen]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Giggles</b></i>

My understanding that the best test to show if a child has CF is through a sweat test.</end quote></div>

My understanding is that there is a such thing as a false negative but not a false positive, so when in doubt, a blood test is your best way of determining if your child has CF. Though I too am surprised that they bypassed the sweat test. That's alway the first test they do before a DNA blood test.

Good luck with your results. You'll be in my thoughts!

 

[chipper28]

I kind of thought they liked both... I've had three positive sweat
tests, but my new friends at the cf clinic say they still want to
get a genetic test.  They also said that as a late diagnosis
(24), they'll just start wtih the Ambry instead of playing with the
shorter one. . .

 

[anonymous]

My husband and I are currently 4 months pregnant. When I came back as a carrier they did blood tests on my husband. His DNA results took two weeks to come back, although at the time our genetics doctor told us at some facilities it can take up to four weeks.

It sounds like there is an alternative test out there with the sweat test. From what I have read here, it sounds like the blood testing will be more accurate when it returns.

My husband came back as a carrier and we are now having to get an amnio done to test our baby. We couln't get the amnio scheduled any sooner than 08/29/06 and the CF results won't be back until 09/26/06, about a month later.

I understand what you are going through and how agonizing the waiting process is. You just want to know so that you can do everything that you can. I know that it is hard but try to stay positive. It will help your child's attitude stay positive. They say that early detection in the case of positive CF results can be extreamly helpful in a persons treatment. My heart and prayers go out to you and your family. I wish you the best of luck with your test results and you will be in my thoughts and prayers.

 

[anonymous]

as a mother of two, one with cf, one without -- the waiting is the hardest part. Nothing i can say can make that better. My 1st son was diagnosed using sweat test and then followed up with bloodwork -- My 2nd son, we went through in-vitro and they were able to do the genetic testing using PGD, and we waited over a month for the results. Next to our son's diagnosis - - that waiting was the most horrible time in our lives, thankfully -- our 2nd son was born CF free-- Thanks to medical advances!!!

 

[my3angels]

Good news for my son and our family.  His blood tests came
back negative.  I was so happy that I completely forgot to ask
his pediatrician about how many genes they tested for.  I'm so
thankful for all of you, your responses, and your information.
 He has a follow-up appointment with his pediatrician next
week and I will get a lot more information.  I just wanted to
post a message to thank all of you for your responses. Hopefully
everyone that replied to me will read this message and know that I
am very thankful to each of you!!!!!!!

 

[Mommafirst]

That's wonderful news, thanks for letting us know!!