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

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JayP
New Member


Date Joined Sep 2006
Total Posts : 2
   Posted 9/1/2006 9:33 AM (GMT -7)   
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.
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Chaser
Regular Member


Date Joined Apr 2006
Total Posts : 91
   Posted 9/1/2006 1:21 PM (GMT -7)   
First of all, I'm sorry to hear that you are going through this. This must be very shocking, and hard to deal with. Secondly, welcome to the site. I have CF. I also have double delta f508 (which means I have 2 copies of the same gene). In order for your child to have CF - he/she must have 2 copies of the defective gene. If both you and your wife are carriers, then there is a 25% chance that your child will have CF. If only you, or your wife (not both of you) are a carrier, then your child will ONLY be a carrier. You need two copies of the gene to have CF. Like I mentioned, I have 2 copies of the delta f508 gene, and I'm fairly healthy for someone with CF (only a handful of hospitalizations in my lifetime). I have what you might want to call "mild" CF at the moment, and I'm turning 25 this month! CF is not the death sentence that it used to be. Many CFers are living into their 20s, 30s, 40s, 50s and even 60s! There have been so many advances made since I was diagnosed (6 weeks of age) in terms of meds, etc.

I should let you know, that there is a such thing as a false negative, but not a false positive when it comes to sweat tests. I would suggest getting the sweat test done at an accredited CF centre, as they will test for many more mutations then a regular clinic. I would also suggest getting a DNA test to see if there are two copies of the gene as well.

There are many symptoms to CF: failure to thrive, foul smelling gas and stools, no weight gain or hardly any weight gain, and salty skin. If you kiss or lick your child's forehead and come away with a bitter salt taste on your lips or tongue - that is a common symptom of CF - we CFers sweat out a ton of salt.

Here are a few links that you may find helpful in your quest for info:

http://www3.nbnet.nb.ca/normap/CF.htm

http://en.wikipedia.org/wiki/Cystic_fibrosis

http://www.cff.org/home/

http://www.cysticfibrosis.com/

http://forums.cysticfibrosis.com/

Good luck!

Sea 2
Regular Member


Date Joined May 2006
Total Posts : 69
   Posted 9/2/2006 12:43 AM (GMT -7)   

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.

 


imondeck
Regular Member


Date Joined Apr 2006
Total Posts : 105
   Posted 9/2/2006 6:31 AM (GMT -7)   

Hello Jay and welcome to HW!  Lot of good information posted above.  CF can be difficult to diagnose at times and the waiting can be unbearable,  I feel for you and your wife.

Make sure the sweat test is done at an accredited center (as stated above).  If you than have to have more DNA, Ambry has an excellent extended panel/promotor region test that they can perform.  It has been known that there are people who have CF and their mutations have not been found. I believe the specialists look at the "whole picture" in making a diagnosis.

Your son will be followed closely and it sounds like he is in very good hands!

 

 

 


Sandra
 
Be who you are and say what you feel, because those who mind don't matter and those who matter don't mind. ~Dr. Seuss


JayP
New Member


Date Joined Sep 2006
Total Posts : 2
   Posted 9/12/2006 8:05 PM (GMT -7)   

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.


Sea 2
Regular Member


Date Joined May 2006
Total Posts : 69
   Posted 9/13/2006 10:59 AM (GMT -7)   
I am very glad for your news.  Thank you for letting us know.  You are not on your own not giving CF a thought until it hits close to home.  I suspect that most people don't give it a second thought until it happens.  It would be great if you raise awareness and funds for CF.   Like you say we are all hoping for the one lifesaver- a cure. 
Sea 2

imondeck
Regular Member


Date Joined Apr 2006
Total Posts : 105
   Posted 9/14/2006 7:02 AM (GMT -7)   

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.


Sandra
 
Be who you are and say what you feel, because those who mind don't matter and those who matter don't mind. ~Dr. Seuss


Mom4Life
New Member


Date Joined Jan 2006
Total Posts : 7
   Posted 1/19/2007 6:55 PM (GMT -7)   
I'm glad your son is "just" a carrier, and realize that you may never read this, but someone else might. I am a biology teacher and I have a son with cf.

Here's what's scary to me. People seem to be acting as if you have nothing to worry about now. But if your son is a carrier, it means he got that defective gene from either you or your wife. Which means that one or the other of you (or perhaps both) are also carriers. If only one of you is a carrier, you can't have a child who has cf. Two people who are carriers for cf can have a child who is "just" a carrier. But they can also have a child who has cf. If you have not been tested to determine whether or not you are both carriers, you should have that test done before you have another child. And for heaven's sake, make sure that when your son gets older, he knows he is a carrier.
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