Anyone with Mutation 3849+10kbC-T

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Cecemtz

New member
Hi, my husband (age 34) doctor has referred us to a CF clinic for further testing because he thinks he may have CF. we had a baby who newborn screen showed him to be a carrier, and it turns out so is my husband he was tested for the 97 most common cf mutations and came back he has one copy of the 3849+10kbC-T mutation, just like our son. his ENT found out my husband was a carrier and said all signs point to him having CF. He has asthma, allergies, chronic sinusitis and reoccurring nasal polyps. His muscus from his nose is kinda thick and sticky but not always and for the most part its clear unless he has a cold or something. He takes zeytec, flonase, symbicort inhailer daily and a rescue inhailer as needed. We dont have much issue with coughing and wheezing he is pretty healthy lung wise, its his polyps and sinues we have the most trouble with its hard to keep his allergies under control. Does anyone know if Carriers have symptoms? Has anybody else experienced something simular ? Please share your story, just trying to get an idea of what to expect. Thanks in advanced
 
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jaimers

Super Moderator
Hey there, I just commented on another one of your posts! Hopefully you'll get some help from the cf center. I would also recommend posting your question on the main "adults" forum as more people will see it there, and I know there are a number of people here with that mutation.
 
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AleksandraKaczynska

New member
my daughter has this mutation along witha second. This muation is strong - meaning it will dominate the course of your husbands health and it is considreed to give a mild cf. My daughter is so far healthy as any kid. But my husband is a carrier of this mutation and has no symtoms at all - so am I a carrier of a much worst muation and have no symtoms also. I suggest you do the testing for cf since he has health problems
 
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MichaelL

New member
I was diagnosed with CF at age 34 using a DNA test. I have this mutation and DF508. I had been given sweat tests as a child and they indicated that I did not have CF. I have had sweat tests again in recent years and they still suggest no CF. I'm mainly mentioning his if they decided to do a sweat test for your husband. I wouldn't take it as a final result.

As stated above, this mutation is associated with a more mild form of CF. I am pancreatic sufficient, so I do not have to take enzymes as most people with CF do. I can't really comment on whether carriers have symptoms -- I don't really know.

I hope they can get this figured out for your husband.
 
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kgfrompa

New member
Cecemtz said:
Hi, my husband (age 34) doctor has referred us to a CF clinic for further testing because he thinks he may have CF. we had a baby who newborn screen showed him to be a carrier, and it turns out so is my husband he was tested for the 97 most common cf mutations and came back he has one copy of the 3849+10kbC-T mutation, just like our son. his ENT found out my husband was a carrier and said all signs point to him having CF. He has asthma, allergies, chronic sinusitis and reoccurring nasal polyps. His muscus from his nose is kinda thick and sticky but not always and for the most part its clear unless he has a cold or something. He takes zeytec, flonase, symbicort inhailer daily and a rescue inhailer as needed. We dont have much issue with coughing and wheezing he is pretty healthy lung wise, its his polyps and sinues we have the most trouble with its hard to keep his allergies under control. Does anyone know if Carriers have symptoms? Has anybody else experienced something simular ? Please share your story, just trying to get an idea of what to expect. Thanks in advanced
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HI i ALSO HAVE 3849+10KBCT i DONT HAVE WHEEZING BUT HAVE HAD MANY CHEST TUBES i AM 60 AND CONSIDER MILD cf i HAVE ALLERGIES AND SINCE I HAD SO MANY COLLASPED LUNGS I HAD TO HAVE PLEURODESIS DONE IN BOTH LUNGS
 
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JustaCFmom

New member
I know this post is from October, but I have a few kids with this mutation. I also carry it, but I don't have any noteworthy symptoms. I hope your husband is feeling better now that he is getting proper treatment. My daughter got diagnosed at 15, after coughing (out of the blue) like crazy for a year straight. Thank G-d, the asthma treatments didn't help her, so we found out relatively quickly. We then screened our entire family and found that my then 20 year old and 8 year old sons also had CF. They are in fine health today. Her functions went from 75% (possibly poor technique) to over 100% predicted. My sons functions are around 120% predicted. This diagnosis hopefully means they will stay in pretty good health. My son is now 25 and has a beautiful baby daughter, without any medical intervention in our case. I remember our doctor telling us he had cared for other patients with this mutation who had fathered children naturally. So, they are the lucky 1 in a million! i just saw this video yesterday, and you might find it helpful https://www.youtube.com/watch?v=uug346s6oLc Good luck!
 
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meredithj

New member
I know you posted this a while ago - but I would love to speak with you more. I have the same two mutations and was diagnosed at 36 (just a few weeks ago).
They are doing a sweat test next week, but I also feel as though it will come up negative - even though I have all the pulmonary symptoms. I also have no pancreatic issues.
The pulmonologist seems to think that the sweat test is the be all to end all, but I think that having both mutations says enough!
Any advice on being diagnosed as an adult with these two mutations would be greatly appreciated!!
 
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ymikhale

New member
my dd has this mutation. She was diagnosed at birth through systematic screening. she has no digestive issues but culture CF bugs and lungwise has a classic CF i would say.
 
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