DeltaF508 Mutation found in my Newborn son. PLEASE HELP US.

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

My Newborn son's blood was screened in the hospital 2-weeks ago for any genetic abnormalities, and the test came back reading that he had higher then normal Trypsinogen. This prompted them to conduct further more extensive testing on the sample. While doing so they discovered the presence of the Delta F508 gene Mutation, which signifies the presense of Cystic Fibrosis (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. However, 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 least a "carrier". In turn, it means that one or both of us (My wife and myself) are carriers. He explained that a second test will need to be done, which can confirm CF. This is called a "Sweat test". Using this test they should be able to find out for certain, 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 is going to be almost unbearable for us.

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. From most of what I have read, the Sweat test more often then not (when performed on infants this young) is usually inconclusive (aka Boarderline). This will lead to even more waiting and the agony that comes along with not knowing.

Can someone tell me what the most cmmon symptoms in newborns with CF are? I hear allot about bowl issues... what types of bowl issues? Lack of Bowl movement? Color? Smells?

Hiccups?
Sneezing?

BTW- My son is 2-weeks old, and has put on 9ounces since birth. He was Born @ 9lbs 1ounce, and is now 9lbs 10ounces. The DeltaF508 Mutation was detected in a newborn screening, and we are waiting to take the Sweat test next week.

Any and ALL advice is appriciated.

Thank you.

Hi,  My grand-daughter was diagnosed at 6 weeks old.  I can well remember how scary the idea was then.  She is 7 months old now.  From the beginning it was obvious that something was not right.  She was born at 6lb 7oz and dropped to 5lb 14oz and just did not gain weight at all for the full six weeks. Her stools shone with the fat that she couldn't absorb.  They were smelly and greenish in colour.   Apparently stools are supposed to look like mustard.  They most certainly didn't.  She did have frequent hiccups.  She tasted salty.  She slept most of the time.  She was very snuffly having lots of mucus in her nostrils and soon developed a cough.  She had two sweat tests but was too small to produce enough for a conclusive result.  Bloods were analysed to confirm diagnosis.  She has the double DF508.

If your son has only the one defective DF508 gene then being a carrier will not give him any of the health problems that cfers have.  If it is found that he has two defective genes(one of which may not be DF508) and he has CF then he will need lots of medication.  However, as soon as Leah began her medication there was an immediate difference in her.  She began to gain weight and was much more alert.  She is now a bright, chubby, active baby who is trying to crawl and never stops smiling.  My advice would be to take each day as it comes and give support to each other.    The waiting was definitely extremely hard to cope with and if he is diagnosed there will be a lot to learn but once we were actively working to make Leah healthier we became much stronger.  Since she was diagnosed there have been several developments in both treatment and research.  We live in hope.

I hope that things go well for you.

Thank you all for your well wishes and words of encouragement. Luckily the test results came to show that my son is only a Carrier of this gene, and does not have a second mutation.

It was the greatest news that I have ever heard in my life.

I feel for those of you who have to deal with this horrible illness everyday. I am ashamed of myself for being one of those people who would have never stopped to think about what it must be like to have a serious illness, until I had a scare close to home.

I plan on devoting allot of my time and energy from this point forward, towards CB awareness and fund raising. They are getting closer to a cure everyday. I hope that somehow I can help play a small part in finding it one day.

God bless you all.

Hello again Jay.  What was the results of your son's sweat tests?  Good to hear that it is not likely that your son has CF and thanks for devoting your time to spreading awareness to the public of this disease.

Take care.