<img src="i/expressions/brokenheart.gif" border="0"> My new grandson was diagnosed last week with two mutations, F508 which I can find info on and 1717-1g2a which I am looking for info on. I am a sibling of two cf holders, 1 male who didn't survive, he died in 1983 age 17 and my sister, who is age 45 and is doing well. I'm sad to be back in this arena, thought after having four kids-all without cf that maybe this was over for us. But life isn't that way, now as a grandmother I'm searching a new and there is so much more to learn. Thank goodness this web site exists, wish my parents had had this tool 40 years ago.
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looking for info on mutation 1717-1g2a
- Thread starter cfnana7
- Start date
Hello, my daughter, Zoe is 27 months old, was diagnosed last April,
the eve of her 1st b-day. Her sweat numbers both times were in the
120's. She had been having bulky, oily, green stools since birth,
as many as 10-15 a day. After me taking her to her pediatrician 24
times in 10 months, he finally listened to me and had her protein
levels checked to see how she was using her foods. Needless to say,
her levels were at an alert level, she was malnourished. She had
started losing a few ounces. They admitted her for 1 week to
Savannah, Ga. hospital. They never even thought of CF. So she went
home undiagnosed. Finally, 3 weeks later, after her still losing a
few more ounces, they referred her to a gastro. doc. at Nemours
Childrens Hospital in Jax. , Fl. He tested her on day 3 of her
stay. That night was a night I will never forget, the pain is still
here. To hear that your daughter has CF is devastating. She spent 2
weeks there, while they got her a feeding tube placed and enzymes
and breathing treatments and CPT all going for us. She kept her f
eeding tube in for 2 months. She weighed 14 lbs. at her diagnosis.
Now she weighs 25 lbs.!! She gained weight very well that 1st year
after diagnosis. All this to tell you that she has the same genes
as your grandchild. I have never met anyone with these same
mutations before. I have tried to research that 2nd gene also.
Pretty much to no avail. It is one of the top 30 mutations though.
So if you have anyone else tested for the genes, they can probably
feel safe having the gene test with the top 30 mutations. She has
mostly gastro issues. Some joint pain when she wakes up, coughing
some, when she gets a cold, the cough gets kind of bad and she goes
on about4-5 weeks of Augmentin. which right now seems to take
care of it. If you have any more questions or thoughts, feel free
to pm me.<br>
<br>
Lots of love at this hard time in your lives...<br>
<br>
Jada,<br>
Zoe's mom
the eve of her 1st b-day. Her sweat numbers both times were in the
120's. She had been having bulky, oily, green stools since birth,
as many as 10-15 a day. After me taking her to her pediatrician 24
times in 10 months, he finally listened to me and had her protein
levels checked to see how she was using her foods. Needless to say,
her levels were at an alert level, she was malnourished. She had
started losing a few ounces. They admitted her for 1 week to
Savannah, Ga. hospital. They never even thought of CF. So she went
home undiagnosed. Finally, 3 weeks later, after her still losing a
few more ounces, they referred her to a gastro. doc. at Nemours
Childrens Hospital in Jax. , Fl. He tested her on day 3 of her
stay. That night was a night I will never forget, the pain is still
here. To hear that your daughter has CF is devastating. She spent 2
weeks there, while they got her a feeding tube placed and enzymes
and breathing treatments and CPT all going for us. She kept her f
eeding tube in for 2 months. She weighed 14 lbs. at her diagnosis.
Now she weighs 25 lbs.!! She gained weight very well that 1st year
after diagnosis. All this to tell you that she has the same genes
as your grandchild. I have never met anyone with these same
mutations before. I have tried to research that 2nd gene also.
Pretty much to no avail. It is one of the top 30 mutations though.
So if you have anyone else tested for the genes, they can probably
feel safe having the gene test with the top 30 mutations. She has
mostly gastro issues. Some joint pain when she wakes up, coughing
some, when she gets a cold, the cough gets kind of bad and she goes
on about4-5 weeks of Augmentin. which right now seems to take
care of it. If you have any more questions or thoughts, feel free
to pm me.<br>
<br>
Lots of love at this hard time in your lives...<br>
<br>
Jada,<br>
Zoe's mom
mommy2bcw2
New member
Our 2 yr old daughter has the DF508 and the 1717-1G<A mutations. I am not sure if this is the same mutation of your grandson but it seems similar? Do you have the excate numbers correct? What we have found is that is very rare only about 7% of cfers have it but it is a stage 1 mutation that means it is moderate to severe with pancreactic insuffenciency. Our daughter is doing OUTSTANDINGLY well! But-- her first year was very rough. She was born with meconium ileus and was in the hospital for 3 weeks. She had an ileostomy bag until she was 5 months old. She also had horrible sinus infections and was in the hospital for iv 2 times in her first year with a culture of Psuedonomas. But it seems as she grew and as she has gotten stronger she has made a 180 degree turn. She is now on the lowest dose of enzymes and hasn't been in the hospital in over a year!
Best of luck to you and your grandson
Blythe
Mom to Birges 4 w/o cf, Brinly 2 w/cf and baby due anyday no cf
Best of luck to you and your grandson
Blythe
Mom to Birges 4 w/o cf, Brinly 2 w/cf and baby due anyday no cf
mommy2bcw2
New member
Our 2 yr old daughter has the DF508 and the 1717-1G<A mutations. I am not sure if this is the same mutation of your grandson but it seems similar? Do you have the excate numbers correct? What we have found is that is very rare only about 7% of cfers have it but it is a stage 1 mutation that means it is moderate to severe with pancreactic insuffenciency. Our daughter is doing OUTSTANDINGLY well! But-- her first year was very rough. She was born with meconium ileus and was in the hospital for 3 weeks. She had an ileostomy bag until she was 5 months old. She also had horrible sinus infections and was in the hospital for iv 2 times in her first year with a culture of Psuedonomas. But it seems as she grew and as she has gotten stronger she has made a 180 degree turn. She is now on the lowest dose of enzymes and hasn't been in the hospital in over a year!
Best of luck to you and your grandson
Blythe
Mom to Birges 4 w/o cf, Brinly 2 w/cf and baby due anyday no cf
Best of luck to you and your grandson
Blythe
Mom to Birges 4 w/o cf, Brinly 2 w/cf and baby due anyday no cf
mommy2bcw2
New member
Our 2 yr old daughter has the DF508 and the 1717-1G<A mutations. I am not sure if this is the same mutation of your grandson but it seems similar?
Do you have the excate numbers correct? What we have found is that is very rare only about 7% of cfers have it but it is a stage 1 mutation that means it is moderate to severe with pancreactic insuffenciency. Our daughter is doing OUTSTANDINGLY well! But-- her first year was very rough. She was born with meconium ileus and was in the hospital for 3 weeks. She had an ileostomy bag until she was 5 months old. She also had horrible sinus infections and was in the hospital for iv 2 times in her first year with a culture of Psuedonomas. But it seems as she grew and as she has gotten stronger she has made a 180 degree turn. She is now on the lowest dose of enzymes and hasn't been in the hospital in over a year! She weighs 28 pounds!
Best of luck to you and your grandson
Blythe
Mom to Birges 4 w/o cf, Brinly 2 w/cf and baby due anyday no cf
Do you have the excate numbers correct? What we have found is that is very rare only about 7% of cfers have it but it is a stage 1 mutation that means it is moderate to severe with pancreactic insuffenciency. Our daughter is doing OUTSTANDINGLY well! But-- her first year was very rough. She was born with meconium ileus and was in the hospital for 3 weeks. She had an ileostomy bag until she was 5 months old. She also had horrible sinus infections and was in the hospital for iv 2 times in her first year with a culture of Psuedonomas. But it seems as she grew and as she has gotten stronger she has made a 180 degree turn. She is now on the lowest dose of enzymes and hasn't been in the hospital in over a year! She weighs 28 pounds!
Best of luck to you and your grandson
Blythe
Mom to Birges 4 w/o cf, Brinly 2 w/cf and baby due anyday no cf
GriffinsMama
New member
Hello CC again,<br>
<br>
I just wanted to touch base with you again and try to post to the
group. My son Griffin is also df508 and 1717 1g>a. He was
born full term and weighed 6lbs. 13oz. He is now 10 mos old and
doing well. He was diagnosed at three mos due to a slow weight
gain. He was gaining at the very lowest end of the acceptable rate,
exactly 1/2 oz per day. He spent ten days in the hospital to get
his nutrition levels back in order and he now does Ultrase enzymes,
adeks and iron along with albuterol and pulmozyme as a prophylactic
with cpt twice a day. He is definitely pancreatic insufficient and
is not showing signs of respiratory issues. No bad cultures (knock
on wood!).<br>
<br>
We live here in California and I'm originally from Massachusetts. I
am the carrier of the 1717 1g>a mutation. My family has come
down from Nova Scotia (Scot, English, Irish) on one side and
Italy on the other. I did read that it is a class one mutation and
is associated with pancreatic insufficiency.<br>
<br>
I also want to say Hi to Jada and Blythe and I hope you are all
doing really well. Give your kids hugs from Griffin!<br>
<br>
It's nice to meet you all!<br>
<br>
<br>
<br>
<br>
I just wanted to touch base with you again and try to post to the
group. My son Griffin is also df508 and 1717 1g>a. He was
born full term and weighed 6lbs. 13oz. He is now 10 mos old and
doing well. He was diagnosed at three mos due to a slow weight
gain. He was gaining at the very lowest end of the acceptable rate,
exactly 1/2 oz per day. He spent ten days in the hospital to get
his nutrition levels back in order and he now does Ultrase enzymes,
adeks and iron along with albuterol and pulmozyme as a prophylactic
with cpt twice a day. He is definitely pancreatic insufficient and
is not showing signs of respiratory issues. No bad cultures (knock
on wood!).<br>
<br>
We live here in California and I'm originally from Massachusetts. I
am the carrier of the 1717 1g>a mutation. My family has come
down from Nova Scotia (Scot, English, Irish) on one side and
Italy on the other. I did read that it is a class one mutation and
is associated with pancreatic insufficiency.<br>
<br>
I also want to say Hi to Jada and Blythe and I hope you are all
doing really well. Give your kids hugs from Griffin!<br>
<br>
It's nice to meet you all!<br>
<br>
<br>
<br>
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>harvey</b></i> This topic interests
me also. Thank you for bringing it up. Just how good/bad can
1717-1G>a be? Harvey</end quote></div><br>
<br>
Hi ,<br>
Here is a link that I found.
It doesn't say how bad it gets but it has a small bit of
info.<br>
<br>
<a href=
"http://www.genet.sickkids.on.ca/cftr">http://www.genet.sickkids.on.ca/cftr</a>
me also. Thank you for bringing it up. Just how good/bad can
1717-1G>a be? Harvey</end quote></div><br>
<br>
Hi ,<br>
Here is a link that I found.
It doesn't say how bad it gets but it has a small bit of
info.<br>
<br>
<a href=
"http://www.genet.sickkids.on.ca/cftr">http://www.genet.sickkids.on.ca/cftr</a>
kayleesgrandma
New member
What a cutie-pie--I just found out my grandaughter is F508 and Y122X whatever that means.
Thanks to everyone for their input, I'm amazed at the knowledge you all have. I talked with my sister yesterday, she is 45 with cf and has pseudomonas in her sinuses and has for years, she has had 6 surgeries to strip them out. She said she's done with that, so far she's able to live her life well. She takes enzymes, vitamins and lots of salt. Every year when her birthday comes in February, I celebrate in my heart, "I've had another year with her". You all give me encouragement to learn and live. CC
GriffinsMama
New member
Hi CC,<br>
<br>
Thanks Griffin is doing really well. We had a weight /height check
yesterday and he weighs 19lbs. 3.3 oz and is 28" long. He is
10 mos. I feed him extremely well and don't allow empty calories in
his diet. If you ever want to talk about baby food just let me
know. He's also breast fed. If your daughter is interested in
breast feeding tell her that taking flax seed oil capsules or just
the oil is very good for her little guy and herself along with her
pre-natal vitamins.<br>
<br>
There are some very interesting links on this site right now about
prevalence of genotypes per country. My family is the 1717 1G>a
and the Nova Scotians are actually of french decent as well. Last
name Languille. My moms side is Italian. Last name La Rosa. Neither
side has any history of known CF and so far none of my siblings or
27 cousins has been tested.<br>
<br>
Is that a picture of your baby-John CC? Boy is that little guy cute
too!!<br>
<br>
lots of love,<br>
<br>
<br>
Thanks Griffin is doing really well. We had a weight /height check
yesterday and he weighs 19lbs. 3.3 oz and is 28" long. He is
10 mos. I feed him extremely well and don't allow empty calories in
his diet. If you ever want to talk about baby food just let me
know. He's also breast fed. If your daughter is interested in
breast feeding tell her that taking flax seed oil capsules or just
the oil is very good for her little guy and herself along with her
pre-natal vitamins.<br>
<br>
There are some very interesting links on this site right now about
prevalence of genotypes per country. My family is the 1717 1G>a
and the Nova Scotians are actually of french decent as well. Last
name Languille. My moms side is Italian. Last name La Rosa. Neither
side has any history of known CF and so far none of my siblings or
27 cousins has been tested.<br>
<br>
Is that a picture of your baby-John CC? Boy is that little guy cute
too!!<br>
<br>
lots of love,<br>
<br>
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Hughett</b></i>
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>harvey</b></i> This topic interests
me also. Thank you for bringing it up. Just how good/bad can
1717-1G>a be? Harvey</end quote></div>
Hi ,
Here is a link that I found.
It doesn't say how bad it gets but it has a small bit of
info.
<a href=
"<a target=_blank class=ftalternatingbarlinklarge href="http://
]http://www.genet.sickkids.on.ca/cftr">http://www.genet.sickkids.on.ca/cftr</a></end quote></div>
">http://www.genet.sickkids.on.c...kids.on.ca/cftr</a>[/q</a>
oh my gosh your son was born on my 25th birthday!!!!!!!
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>harvey</b></i> This topic interests
me also. Thank you for bringing it up. Just how good/bad can
1717-1G>a be? Harvey</end quote></div>
Hi ,
Here is a link that I found.
It doesn't say how bad it gets but it has a small bit of
info.
<a href=
"<a target=_blank class=ftalternatingbarlinklarge href="http://
]http://www.genet.sickkids.on.ca/cftr">http://www.genet.sickkids.on.ca/cftr</a></end quote></div>
">http://www.genet.sickkids.on.c...kids.on.ca/cftr</a>[/q</a>
oh my gosh your son was born on my 25th birthday!!!!!!!
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>amy</b></i> <div class="FTQUOTE"><begin quote><i>Originally posted
by: <b>Hughett</b></i> <div class="FTQUOTE"><begin quote><i>Originally posted by:
<b>harvey</b></i> This topic interests me also. Thank you for
bringing it up. ?Just how good/bad can 1717-1G>a be? Harvey</end quote></div>
Hi , ??????Here is a link that I found. ?It doesn't say how bad it
gets but it has a small bit of info. <a href=
"<a target=_blank class=ftalternatingbarlinklarge href="http:// ]http://www.genet.sickkids.on.ca/cftr">http://www.genet.sickkids.on.ca/cftr</a></end quote></div> ">
http://www.genet.sickkids.on.c...kids.on.ca/cftr</a>[/q oh my gosh
your son was born on my 25th birthday!!!!!!!</end quote></div><br>
<br>
LOL. I knew that day was special. He came 4 weeks early
to be born on that day! To answer GriffinsMama's question,
yes John is CC's grandson. As soon as we found out he had CF
it seems both sides of our family joined up here for information.
<img src="i/expressions/face-icon-small-smile.gif" border="0"> While I am posting, thanks to all who share their
information and take the time to post for us. I am new to
this and I need all the help I can get.<br>
<br>
Hope your day is a good one!
by: <b>Hughett</b></i> <div class="FTQUOTE"><begin quote><i>Originally posted by:
<b>harvey</b></i> This topic interests me also. Thank you for
bringing it up. ?Just how good/bad can 1717-1G>a be? Harvey</end quote></div>
Hi , ??????Here is a link that I found. ?It doesn't say how bad it
gets but it has a small bit of info. <a href=
"<a target=_blank class=ftalternatingbarlinklarge href="http:// ]http://www.genet.sickkids.on.ca/cftr">http://www.genet.sickkids.on.ca/cftr</a></end quote></div> ">
http://www.genet.sickkids.on.c...kids.on.ca/cftr</a>[/q oh my gosh
your son was born on my 25th birthday!!!!!!!</end quote></div><br>
<br>
LOL. I knew that day was special. He came 4 weeks early
to be born on that day! To answer GriffinsMama's question,
yes John is CC's grandson. As soon as we found out he had CF
it seems both sides of our family joined up here for information.
<img src="i/expressions/face-icon-small-smile.gif" border="0"> While I am posting, thanks to all who share their
information and take the time to post for us. I am new to
this and I need all the help I can get.<br>
<br>
Hope your day is a good one!
Hello. My name is Monique. I am 41 years old. I do not have the Delta 508 gene at all. They found that if you don't have the delta 508 gene that is good. I have 1717-1G-A and 2184 del A. I am very healthy and have 4 kids. Know that if you at least have this other gene, that is good. People live a lot longer. Not saying that you don't live long with the delta 508, but genetics show without the 508 these are the cases that are very mild. Good Luck.