Symptomatic Carriers

[chipper28]

I've seen a couple of posts along with some research articles that
mention symptomatic carriers.  It seems these symptoms are
typically chronic sinusitis with some references to asthma.
 <br>
<br>
Does anyone know anything about the frequency and severity of these
traits?  We had already been told that my husband should be
tested to determine if he's a carrier, but if these symptomatic
carriers exist, will that really mean anything?   From
what I understand, even if he is a carrier, they can use IVF to
identify fertilized eggs without his CF gene prior to
implantation... This all seemed to make sense, but my feeling of
certainty is trickling away a little.<br>
<br>
I'm wondering if there are certain mutations which are responsible
for the symptomatic carriers. . .  Also, what is the severity
of these symptomatic carriers?  Sinus surgery a couple of
times in their life, or living on drugs and surgery every year?<br>
<br>
Is this argument a sufficient reason to get a genetic test for me
in addition to the sweat tests?  I had originally been told
they would only do the genetic test if the sweat test was not
positive, but would their be value in knowing my mutations to know
the likelihood of having a symptomatic carrier for a child?
 Am I likely to encounter problems from insurance trying to
get a genetic test additionally if my sweat tests are in the
130's?<br>
<br>
thanks....<br>
<br>
Elizabeth<br>
<br>
<br>

 

[Mockingbird]

Male carriers can also have the infertility of CF.

 

[blindhearted]

Elizabeth,

My mom was told by her allerigist/asthma doctor that he believed that she was a symptomatic carrier. Since I am a Double Delta F508, she would carry Delta F508 (as would my father). She has had sinus surgery once and they want to do another one. The first one didnt help for too long, so she doesnt really want to do the 2nd one any time soon. She, like myself, has terrible sinuses and surgery has yet to make any significate improvement. She also is on one asthma inhaler, but has an albuterol inhaler, but has yet to need it. My dad doesnt have sinus problems, and recently started having breathing problems (oxygen when he sleeps, an inhaler) but he was also a smoker of 12 yrs (around 2 pks or more a day) before I was born (he stopped cold turkey the day I was born) so that is what they think his problems are coming from....not his carrier status.

I personally think a full genetic test is a good idea since it covers more CF mutations (specially rare CF genes). However knowing what you and your husband carry will help them know what to look for. I dont think just because you are a carrier of CF that the mutation you carry will decide if you are a symptomatic carrier or not. I think it is more of an individual bases As I said above, both of my parents carry the same gene, two different out comes.

Not sure if I answered any of you questions, but hopefully helped out some.

 

[bmombtoo]

Hi Elizabeth,<br>
My son is presently being screened for CF mutations including a
carrier. He is now 12 and had three hospitalizations for
respiratory infections before he was three. One was very scary when
his temp spiked to 107. Additionally he has used a nebulizer most
of his life. His sweat test was 70 by a non-CF hospital and 15 at a
CF Center. He was sent for a sweat test after having sinus surgery
and PE tubes placed back in May.  He had nasal polyps which
are usually found in CF children.  He is often sick, misses
school (12 days this year).<br>
So having a CF related disease or carrier can be miserable.

 

[ReneeP]

Elizabeth,

I'm not real clear on your situation. If I am reading your post correctly, you had a positive sweat test but have not had genetic testing. If that's correct, I'd say that almost any insurance would cover the testing. It's a given that the dr would want to know what your mutations are.

As far as symptomatic carriers go, I might quailify there. My daughters are both Double Delta F508 so obviously I carry that gene. I have mild asthma and have always suffered from allergies and sinus problems. Nothing extreme really. I think I have adjusted to it over my life and never really knew anything different. I was recently at the dr for a physical and she asked me how I can stand it with my sinuses acting up so badly and I didn't even know they were. The only things I really notice are the headaches and sometimes I get this sick "smell" that apparently only I can smell. The first time I noticed it I was freaking out thinking I had some kind of wierd body oder because wherever I went the smell went with me but no matter how many times I showered it wouldn't go away. I finally asked my husband if I stink... lol... It's inside my nose. I assume it's when I have a sinus infection. I am also very sensitive to smells like perfume. I can walk through Walmart and pass someone with heavy perfume on and I'll get an instant headache.

Oh, and I also have clubbed thumbs...as do both my daughters with CF.

 

[coltsfan715]

I was talking to my mom about this before. I am also double Delta F508, so both of my parents are carriers of that gene. My mom has severe allergies and has always had sinus problems. Sometimes her cough sounds as nasty as mine. She was asking if I thought it could be due to her being a carrier for CF DF508. I told her I guess it is possible. My dad has never had any real problems with getting sick or anything, but he has TON of salt in his sweat when he is exercising or working in the yard. He is basically covered in salt crystals if he lets the sweat dry - his clothes end up covered in salt as well. I swear you could shake his shirts and shorts and fill a salt shaker it is that obvious. Maybe CF related maybe not who knows.

Lindsey

 

[wanderlost]

I find symptomatic carriers interesting. My dad has horrible ashtma and sinus issues, my grandfather on that side died of emphysema at 62 - he was a smoker, though still 62 seems young to die from emphysema - so perhaps some lung issues there? Also, my uncle on my mothers side is infertile - though I can't say it has ever been looked at as to whether it is a vas deferens thing as in most CF men, and too sensitive for me to ask (he is in his 50s now and not going to have any kids, so moot point), but I have always wondered if that was loooked into.
At the same time, my son, who is obviously a carrier, shows no symptomatic signs. I wish I had the genotype of both my parents and my son to know possibly which gene might be causing what. I am delta F508 and S549n (I think, but can never rmemeber for sure on that one). Of course it's all conjecture, but interesting nonetheless.

 

[Ratatosk]

DS is double deltaf508 and I've always had sinus problems. My mom does, too, but my dad doesn't. DH has never had any issues with his sinuses, but as a youngster had tons of ear infections, tonsilitis, etc. until they took out his tonsils as a toddler. His father and brother on the otherhand have had multiple sinus surgeries, polyps, chronic infections...

 

[blindhearted]

hmmm....this is interesting, most people who has family that are possible symptomatic carriers are CFers that are Double Delta F508....wonder if that has any connection or just the happen be the ones who replyed?

 

[amber682]

Its funny this was brought up because I was just talking about this
today with my family. My son has CF, but is not double deltaF508.
He has DF508 and the other is currently not known to us (we need
another genetic test to locate the other gene, the test we had did
not, but I'm not sure how many mutations it tested) Anyway, the
DF508 comes from my side of the family, and there are a lot of
sinus and allergy problems in the family. Although we are not sure
who are carriers and who are not, we just know I'm a carrier. We've
always joked that my family has weak immune systems. I just wonder
if any of it has to do with carrying the DF508 gene, but I know I
carry it and have had no sinus or allergy problems. I'm very
interested in finding out more about the whole symptomatic carrier
thing as it is researched more.