My 11 day old daughter was diagnosed through her newborn screen. We took her to a cf clinic based on our drs recommendation and they did a fecal Elastys test ( no results back yet) sweat test is going to be scheduled for next week. I know it runs in my husbands family but I'm like 99% positive it does not run in mine( I did a genetic family tree 2 years ago). They did tell me however that they found two specific gene mutations in her bloodwork ? Trying to make sense of it all. I have a 4 year old boy and 2 year old girl CF FREE
Any chance newborn screen is wrong?
- Thread starter Dowling
- Start date
Aboveallislove
Super Moderator
Call your doctor's office and ask them to fax you the newborn screen results. Then you will have the specific mutations. There are some "mutations" that are not supposedly "CF causing," but those are rarer and sometime do. More likely, the two specific gene mutations are CF gene mutations. And while it is possible that she won't have CF even with those two genes, it is very very unlikely. I asked the same question which no one would answer for me until I got the person who did the sweat test and then he told me that. Also, if you get the specific mutations we can tell you if Kalydeco might work for your daughter--the new drug that is FDA approved that is getting great results.
I was diagnosed at age 47 and there is NOBODY on either side of my family who had CF.
I too did my family tree. I found a number of infant deaths, dating back to the early 1000's AD. CF or other causes we will never know.
FACT: Given all of the above info, I HAVE CF. I have had sweat tests, a biopsy, nasal testing and a Full CF Gene Sequene Analysis. All positive. If I were you, I would accept the dx until proven otherwise.
Bill
I too did my family tree. I found a number of infant deaths, dating back to the early 1000's AD. CF or other causes we will never know.
FACT: Given all of the above info, I HAVE CF. I have had sweat tests, a biopsy, nasal testing and a Full CF Gene Sequene Analysis. All positive. If I were you, I would accept the dx until proven otherwise.
Bill
Hi Dowling,
I've seen your other posts, and I know you are scared and want answers yesterday. My wife and I were in your shoes two plus years ago when our son was born and had a positive indicator for CF on the newborn screen.
Our story went like this. We had one mutation detected on the newborn screen, and our Pedi referred us to a CF center for investigation. They did a sweat test on our son and the results were elevated but not definitive for CF. They also did the Ambry complete blood test on our son to identify all mutations and did the same blood test for me tinder which mutation I have.
It is important to know that many people are carriers for CF...meaning they have only one mutation inherited from one of their parents. You have to have two mutations, one inherited from each parent, to have CF. Lots of kids are born as carriers, only having inherited one mutation from one or the other parent but not one from each. If both parents have a mutation, they could pass no mutations (so the child has neither mutation), one or the other could pass one (so the child has one mutation which makes them a carrier), or they could each pass one (which usually means the child will have CF). This may explain why your older kids do not have CF and/or why they did not get a positive indicator on their newborn screen. (Newborn screens may also be new in your state, so they may not have even had this done or CF may not have been part of the screen when they were born.)
The other thing to keep in mind is that every CF patient is different, and some have much milder symptoms or even no symptoms for part or much of their young lives. My oldest son is about 2 and a half, and has no symptoms yet. My youngervdon is almost 9 months, has the same mutations, and also has no symptoms. Interestingly, my younger son had an even lower and totally normal range test result on the sweat test.
To get the answers you are searching for as far as diagnosis goes, I recommend getting the sweat test and the complete genetic blood test for CF mutations so you can confirm the diagnosis. Knowing the mutation combo can sometimes help the doctor know what to expect and when, but again it is so different with each person that you cannot know for sure when and what symptoms will appear.
My two boys appear perfectly normal, and we would not have known about CF without the newborn screen. Now that we know, we can watch more carefully for symptoms to show up and we can be more proactive with preventative care and monitoring so we are ready if symptoms change.
I will also say that there is a possibility that an error was made in your newborn screen, which is why they are referring you for investigation. I know how overwhelming this all is, and I encourage you to keep searching and learning, be patient and positive whenever it feels overwhelming, and reach out to others if you need help. I would also be happy to talk to you if it would help...you can PM me any time.
Hang in there...this is manageable!
I've seen your other posts, and I know you are scared and want answers yesterday. My wife and I were in your shoes two plus years ago when our son was born and had a positive indicator for CF on the newborn screen.
Our story went like this. We had one mutation detected on the newborn screen, and our Pedi referred us to a CF center for investigation. They did a sweat test on our son and the results were elevated but not definitive for CF. They also did the Ambry complete blood test on our son to identify all mutations and did the same blood test for me tinder which mutation I have.
It is important to know that many people are carriers for CF...meaning they have only one mutation inherited from one of their parents. You have to have two mutations, one inherited from each parent, to have CF. Lots of kids are born as carriers, only having inherited one mutation from one or the other parent but not one from each. If both parents have a mutation, they could pass no mutations (so the child has neither mutation), one or the other could pass one (so the child has one mutation which makes them a carrier), or they could each pass one (which usually means the child will have CF). This may explain why your older kids do not have CF and/or why they did not get a positive indicator on their newborn screen. (Newborn screens may also be new in your state, so they may not have even had this done or CF may not have been part of the screen when they were born.)
The other thing to keep in mind is that every CF patient is different, and some have much milder symptoms or even no symptoms for part or much of their young lives. My oldest son is about 2 and a half, and has no symptoms yet. My youngervdon is almost 9 months, has the same mutations, and also has no symptoms. Interestingly, my younger son had an even lower and totally normal range test result on the sweat test.
To get the answers you are searching for as far as diagnosis goes, I recommend getting the sweat test and the complete genetic blood test for CF mutations so you can confirm the diagnosis. Knowing the mutation combo can sometimes help the doctor know what to expect and when, but again it is so different with each person that you cannot know for sure when and what symptoms will appear.
My two boys appear perfectly normal, and we would not have known about CF without the newborn screen. Now that we know, we can watch more carefully for symptoms to show up and we can be more proactive with preventative care and monitoring so we are ready if symptoms change.
I will also say that there is a possibility that an error was made in your newborn screen, which is why they are referring you for investigation. I know how overwhelming this all is, and I encourage you to keep searching and learning, be patient and positive whenever it feels overwhelming, and reach out to others if you need help. I would also be happy to talk to you if it would help...you can PM me any time.
Hang in there...this is manageable!
Aboveallislove
Super Moderator
I'm sorry--I don't know anything about stop mutations, but if you go to: http://www.cftr2.org/ you can put in the specific mutation numbers and it will give you information on whether it is generally disease-causing.l
My boys have the delta F508 and a rare missense mutation (the name of which I still haven't memorized). From what we are told, this combo typically results in milder symptoms, but we don't really know what and when.
I also know the husband of a friend of mine recently found out he has CF and he is in his 30's. He had zero respiratory or gastro symptoms throughout life that would indicate he had CF, but he found out when they started trying for kids. (CF can interfere with conceiving because the reproductive plumbing can get clogged with mucus.) This is just one of many stories you will hear that show a fairly normal life can be ahead of someone born with CF.
There are certainly more serious cases and very tough roads for some with CF, and those are what you hear and see more often. Many CFers have severe symptoms, but I think even those folks will tell you that the chances of keeping this condition in check are better now for your daughter than they have EVER been!
Please let us know what your rest results show, and ask any questions you like along the way. We are here to comfort and help each other.
I also know the husband of a friend of mine recently found out he has CF and he is in his 30's. He had zero respiratory or gastro symptoms throughout life that would indicate he had CF, but he found out when they started trying for kids. (CF can interfere with conceiving because the reproductive plumbing can get clogged with mucus.) This is just one of many stories you will hear that show a fairly normal life can be ahead of someone born with CF.
There are certainly more serious cases and very tough roads for some with CF, and those are what you hear and see more often. Many CFers have severe symptoms, but I think even those folks will tell you that the chances of keeping this condition in check are better now for your daughter than they have EVER been!
Please let us know what your rest results show, and ask any questions you like along the way. We are here to comfort and help each other.
Aboveallislove
Super Moderator
And if you look here: http://www.cftr2.org/glossary.php you'll see the different types of mutations (toward the end).
Aboveallislove
Super Moderator
And if you look here: http://www.cftr2.org/glossary.php you'll see the different types of mutations (toward the end).
Ok so I figured out she has the E60x and the deltaf508. From what I am reading, the e60x usually gives severe pancreatic symptoms and much less severe pulmonary manifestations "usually resulting In a better prognosis" or so they say. The deltaf508 seems to be pretty severe though
Aboveallislove
Super Moderator
Need to do son's treatments but will see if I can find anything else out--our son has 2 of the deltaf508, though, and so far his gi issues are the issue--his lungs have been fine, but we are religious on treatments. Maybe start a new thread and ask if anyone has e60x and what they can tell you. hang in there mom. hugs and prayers.
Kimmiegirl
New member
My daughter has Deltaf508 and g542x ( a stop mutation) the stop mutation does not create the protein in the lungs to spark the cilia hairs to move & remove mucus. The Deltaf508 gene created the protein but it is misshapen & can not get through to the cilia hairs. They are working really hard to find a cure for the Delta because it is the most common. In theory, if they find the cure for Delta, our munchkins will be okay, because you & your husband are only operating with 1/2 the protein yourselves & doing fine. There is alot of hope. It is so scary, but hold on to the hope, because it is there & God willing very real!
WOW. It took 16 weeks for me to get the results of my FULL CF SEQUENCING in order to identify my second mutation and you were able to "figure it out.
I'm really inpressed. My CF Clinic could benefit from your ability.
Bill
Aboveallislove
Super Moderator
Bill,
I asked her which mutation and she mentioned a stop X. She merely had to find out what the actual mutation was from the documentation and was sharing that for some insight. Please try not to be so snotty with others; it is truly unkind and beneath you.
I asked her which mutation and she mentioned a stop X. She merely had to find out what the actual mutation was from the documentation and was sharing that for some insight. Please try not to be so snotty with others; it is truly unkind and beneath you.
Sorry Love:
This is the woman who started out by stating that she was 99% positive that her child got two mutations from her husband and none from her. She is guessing and she should stop it and listen to the CF SPECIALIST.
By now you know nothing is beneath me, if I can help educate somebody here.
Bill
This is the woman who started out by stating that she was 99% positive that her child got two mutations from her husband and none from her. She is guessing and she should stop it and listen to the CF SPECIALIST.
By now you know nothing is beneath me, if I can help educate somebody here.
Bill
beautifulsoul
Super Moderator
This is a support forum, especially for NEWLY DIAGNOSED patients. Please be courteous to everyone involved. Sarcasm is not necessary.