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Someone please help me. I dont know what kind of help I even need. Im so scared, and dont know where to turn.

My infants blood was screened in the hospital 2-weeks ago for any genetic abnormalities, and the test came back reading that the baby had higher then normal Trypsinogen. This prompted them to further test the sample, and while doing so they discovered the presence of the Delta F508 Mutation, which is a Cystic Fibrosis gene mutation (as most of you probably already know). Our pediatrician informed us of this posetive reading this morning, and my wife and I have been frantic ever since. (I am not showing it on the outside, in effort to keep her calm. She is border line hysterical.)

The Pediatrician told us that the presence of this mutation alone does not automatically mean that our son has CF, but that he is at the very east a carrier. In turn, it means that one or both of us (My wife and myself) are carriers. He explained that a further test will need to be done to confirm the suspicion, called a "Sweat test", using this test they should be able to confim whether or not he has this awful diesese. I am scared out of my mind right now. The test is not for another week (Sept.7), It is the most painful thing I have ever had to hear, and this waiting period id going to be almost unbearable.

Has anyone else ever experienced this? Also, are the chances good that he will NOT be infected? Or are the Dr's giving us a false sense of hope just to keep our spirits up?

I just dont know what to do..I am so confused.

Any and ALL advice is appriciated.

Thank you.
I would hope they would do a more extensive blood test. Yes, the screening test can show a positive and the person can only be a carrier, that's why they usually suggest more extensive genetic BLOOD testing. With teeny tiny infants, it is very difficult to get an adequate sweat sample, so your child could end up having a NORMAL sweat test, yet still have CF. Our son has two copies of delta f508 (homozygous), yet his sweat test was a normal 32.

Is there an accreditted CF facility in your area? It's also very important that a sweat test be done at a facility where they follow the standards.

Your child may or may not have a genetic disease. Three years ago our son was born with a bowel obstruction and it was determined he had CF. We feel fortunate that it was detected early so we could keep his lungs healthy, some people aren't diagnosed until later in life, after there is significant lung damage.
Jayson,

I know the pain you're going through right now, my 4yr old son was diagnosed a 5 months old. It is so painful & difficult- right down to your core.

My son was not screened at birth, and was quite ill the first 5 months of his life. It was awful, and at least if your child does ihave CF, you will not go through what many of us had to. I'm so glad you recognize how important the screening is.

I, too, would definately recommend a more extensive genetic blood test. Getting an adequate amount of sweat from a newborn is very difficult, which could mean innacurrate results. AMBRY Genetics is able to TEST the blood- as opposed to a simple screen-- they can determine if you child has 1 copy of the gene, which would make him/ her a carrier- or 2 copies of the gene, which would mean a CF diagnosis.

Waiting is the absolute worst for a parent, and I would ask that your child be taken in immediately for the blood test.

My heart goes out to you and your family. This is rock bottom as far as emotions go-- the hurt is unbearable. But I promise that if the CF test comes back positive, what you're feeling now will ease. You'll see all of the available treatments and how you can work them into your day.

Is this your first child???
My thoughts are with you............:angel:
[QUOTE=JaysonP]Someone please help me. I dont know what kind of help I even need. Im so scared, and dont know where to turn.

My infants blood was screened in the hospital 2-weeks ago for any genetic abnormalities, and the test came back reading that the baby had higher then normal Trypsinogen. This prompted them to further test the sample, and while doing so they discovered the presence of the Delta F508 Mutation, which is a Cystic Fibrosis gene mutation (as most of you probably already know). Our pediatrician informed us of this posetive reading this morning, and my wife and I have been frantic ever since. (I am not showing it on the outside, in effort to keep her calm. She is border line hysterical.)

The Pediatrician told us that the presence of this mutation alone does not automatically mean that our son has CF, but that he is at the very east a carrier. In turn, it means that one or both of us (My wife and myself) are carriers. He explained that a further test will need to be done to confirm the suspicion, called a "Sweat test", using this test they should be able to confim whether or not he has this awful diesese. I am scared out of my mind right now. The test is not for another week (Sept.7), It is the most painful thing I have ever had to hear, and this waiting period id going to be almost unbearable.

Has anyone else ever experienced this? Also, are the chances good that he will NOT be infected? Or are the Dr's giving us a false sense of hope just to keep our spirits up?

I just dont know what to do..I am so confused.

Any and ALL advice is appriciated.

Thank you.[/QUOTE]


Hi Jayson

I know how difficult this is for you both. No one wants to believe that there is something wrong with their child. You mentioned that your son showed the D508 gene but as you know by now both you and your partner have to have passed on the gene for your son to have CF.

Have you had anymore results back yet? I know that it is so very frustrating playing the waiting game.

Hopefully, you'll find that your son is only a carrier and then at least he will know it's something that he needs to check when he is looking at having kids of his own.

If per chance he does has CF. You will get through that too. Finding out this early is a good thing, as you can start treating it from the word go and not find out down the track when the damage is done.

My daughter has CF and is almost 16. She is an amazing girl and does everything that all the other kids do. Nothing holds her back.She lives life to the fullest.

God bless. just know that there are people out there that will be there for you if you need them.

Wendy





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