Hello!<br>I've been lurking for a few days now and wanted to introduce myself.<br>I am mom to a beautiful baby girl who is almost 3 mths now and was diagnosed with CF at the end of November. Diagnosis came as a shock to us as we had no clue we were carriers. Also, our girl has been thriving incredibly well - as a matter of fact she gained more than 7 lbs in 2 months!! We are from Italy (greater Rome area) so I'm not sure the conversion lbs/kilos is right..by the way she now weighs 6 kg and 300 grams and she was only 3 kgs and 100 grams when she left the hospital...!!<br>Everybody at the CF center was amazed by her incredible healthy status...her pancreas seems to be working very well and the chest RX was completely negative. She has DF508 and G85E mutation. The latter is known to be a missense variable mutation that can give milder disease to some CFers..we are hopeful that she will be one of those "lucky" patients!We are on preventive therapy now, they do so here in Italy almost everywhere in the country...hope it will help the symptoms to never show!<br>It was really hard at first and still is...I could not believe she actually has it...but now I'm grateful she is doing so well and really optimistic for the future, especially since new meds are coming...and we think VX-770 might help with her second mutation (possibly a gating mutation like G551D). I have to say here in Italy everybody believes that a cure is coming and they (we!) are all very thrilled and hopeful for a better future for our kids and also adults with CF.<br>I am a non believer but I believe in love and think that our love will help our DD to thrive and be happy.<br>So, love to all of you out there, I'm happy there are others with which we can share our thoughts and feelings.<br>Happy new year, may this be the year that brings a cure for CF!
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My baby girl
- Thread starter Lilith79
- Start date
Hello!<br>I've been lurking for a few days now and wanted to introduce myself.<br>I am mom to a beautiful baby girl who is almost 3 mths now and was diagnosed with CF at the end of November. Diagnosis came as a shock to us as we had no clue we were carriers. Also, our girl has been thriving incredibly well - as a matter of fact she gained more than 7 lbs in 2 months!! We are from Italy (greater Rome area) so I'm not sure the conversion lbs/kilos is right..by the way she now weighs 6 kg and 300 grams and she was only 3 kgs and 100 grams when she left the hospital...!!<br>Everybody at the CF center was amazed by her incredible healthy status...her pancreas seems to be working very well and the chest RX was completely negative. She has DF508 and G85E mutation. The latter is known to be a missense variable mutation that can give milder disease to some CFers..we are hopeful that she will be one of those "lucky" patients!We are on preventive therapy now, they do so here in Italy almost everywhere in the country...hope it will help the symptoms to never show!<br>It was really hard at first and still is...I could not believe she actually has it...but now I'm grateful she is doing so well and really optimistic for the future, especially since new meds are coming...and we think VX-770 might help with her second mutation (possibly a gating mutation like G551D). I have to say here in Italy everybody believes that a cure is coming and they (we!) are all very thrilled and hopeful for a better future for our kids and also adults with CF.<br>I am a non believer but I believe in love and think that our love will help our DD to thrive and be happy.<br>So, love to all of you out there, I'm happy there are others with which we can share our thoughts and feelings.<br>Happy new year, may this be the year that brings a cure for CF!
AleksandraKaczynska
New member
Hello and welcome.
I know two people with cf from Italy and I find your attitude there - well - very optimistic.
I'm from Poland and am a mom to a wonderful 4 yearold with cf.
You can learn alot here.
My Asia is aslo pancreatic sufficient and has no symptoms. That a good start.
I know two people with cf from Italy and I find your attitude there - well - very optimistic.
I'm from Poland and am a mom to a wonderful 4 yearold with cf.
You can learn alot here.
My Asia is aslo pancreatic sufficient and has no symptoms. That a good start.
AleksandraKaczynska
New member
Hello and welcome.
I know two people with cf from Italy and I find your attitude there - well - very optimistic.
I'm from Poland and am a mom to a wonderful 4 yearold with cf.
You can learn alot here.
My Asia is aslo pancreatic sufficient and has no symptoms. That a good start.
I know two people with cf from Italy and I find your attitude there - well - very optimistic.
I'm from Poland and am a mom to a wonderful 4 yearold with cf.
You can learn alot here.
My Asia is aslo pancreatic sufficient and has no symptoms. That a good start.
M
Mommafirst
Guest
Welcome!! I'm so sorry you are dealing with a diagnosis, but I'm glad you found us. I just love being able to meet so many moms from around the world, all of us facing the same issues. I don't know much about the Italian CF centres, but it sounds like they are very on top of things!!
Congrats on your baby girl -- she will be a huge blessing in your life!!!!
Congrats on your baby girl -- she will be a huge blessing in your life!!!!
M
Mommafirst
Guest
Welcome!! I'm so sorry you are dealing with a diagnosis, but I'm glad you found us. I just love being able to meet so many moms from around the world, all of us facing the same issues. I don't know much about the Italian CF centres, but it sounds like they are very on top of things!!
Congrats on your baby girl -- she will be a huge blessing in your life!!!!
Congrats on your baby girl -- she will be a huge blessing in your life!!!!
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Lilith79</b></i> Hello!
I've been lurking for a few days now and wanted to introduce myself.
I am mom to a beautiful baby girl who is almost 3 mths now and was diagnosed with CF at the end of November. Diagnosis came as a shock to us as we had no clue we were carriers. Also, our girl has been thriving incredibly well - as a matter of fact she gained more than 7 lbs in 2 months!! We are from Italy (greater Rome area) so I'm not sure the conversion lbs/kilos is right..by the way she now weighs 6 kg and 300 grams and she was only 3 kgs and 100 grams when she left the hospital...!!
Everybody at the CF center was amazed by her incredible healthy status...her pancreas seems to be working very well and the chest RX was completely negative. She has DF508 and G85E mutation. The latter is known to be a missense variable mutation that can give milder disease to some CFers..we are hopeful that she will be one of those "lucky" patients!
We are on preventive therapy now, they do so here in Italy almost everywhere in the country...hope it will help the symptoms to never show!
It was really hard at first and still is...I could not believe she actually has it...but now I'm grateful she is doing so well and really optimistic for the future, especially since new meds are coming...and we think VX-770 might help with her second mutation (possibly a gating mutation like G551D). I have to say here in Italy everybody believes that a cure is coming and they (we!) are all very thrilled and hopeful for a better future for our kids and also adults with CF.
I am a non believer but I believe in love and think that our love will help our DD to thrive and be happy.
So, love to all of you out there, I'm happy there are others with which we can share our thoughts and feelings.
Happy new year, may this be the year that brings a cure for CF!
</end quote>
Hello,
I am also from Italy. We live close to Rome. My little girl also had elevated IRT levels and they ran a test for DNA mutazioni at Umberto I. The test result was negativebutWe are now waiting to have a sweat test done. I wanted to ask you some questions. Did your little girl show any symptoms i.e(salty skin, strange stools, etc?) Did she also preform a sweat test? How long for the results? Do you know how accurate the DNA test is? Thank you for your time and congrats on your little girl
I've been lurking for a few days now and wanted to introduce myself.
I am mom to a beautiful baby girl who is almost 3 mths now and was diagnosed with CF at the end of November. Diagnosis came as a shock to us as we had no clue we were carriers. Also, our girl has been thriving incredibly well - as a matter of fact she gained more than 7 lbs in 2 months!! We are from Italy (greater Rome area) so I'm not sure the conversion lbs/kilos is right..by the way she now weighs 6 kg and 300 grams and she was only 3 kgs and 100 grams when she left the hospital...!!
Everybody at the CF center was amazed by her incredible healthy status...her pancreas seems to be working very well and the chest RX was completely negative. She has DF508 and G85E mutation. The latter is known to be a missense variable mutation that can give milder disease to some CFers..we are hopeful that she will be one of those "lucky" patients!
We are on preventive therapy now, they do so here in Italy almost everywhere in the country...hope it will help the symptoms to never show!
It was really hard at first and still is...I could not believe she actually has it...but now I'm grateful she is doing so well and really optimistic for the future, especially since new meds are coming...and we think VX-770 might help with her second mutation (possibly a gating mutation like G551D). I have to say here in Italy everybody believes that a cure is coming and they (we!) are all very thrilled and hopeful for a better future for our kids and also adults with CF.
I am a non believer but I believe in love and think that our love will help our DD to thrive and be happy.
So, love to all of you out there, I'm happy there are others with which we can share our thoughts and feelings.
Happy new year, may this be the year that brings a cure for CF!
</end quote>
Hello,
I am also from Italy. We live close to Rome. My little girl also had elevated IRT levels and they ran a test for DNA mutazioni at Umberto I. The test result was negativebutWe are now waiting to have a sweat test done. I wanted to ask you some questions. Did your little girl show any symptoms i.e(salty skin, strange stools, etc?) Did she also preform a sweat test? How long for the results? Do you know how accurate the DNA test is? Thank you for your time and congrats on your little girl
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Lilith79</b></i> Hello!
I've been lurking for a few days now and wanted to introduce myself.
I am mom to a beautiful baby girl who is almost 3 mths now and was diagnosed with CF at the end of November. Diagnosis came as a shock to us as we had no clue we were carriers. Also, our girl has been thriving incredibly well - as a matter of fact she gained more than 7 lbs in 2 months!! We are from Italy (greater Rome area) so I'm not sure the conversion lbs/kilos is right..by the way she now weighs 6 kg and 300 grams and she was only 3 kgs and 100 grams when she left the hospital...!!
Everybody at the CF center was amazed by her incredible healthy status...her pancreas seems to be working very well and the chest RX was completely negative. She has DF508 and G85E mutation. The latter is known to be a missense variable mutation that can give milder disease to some CFers..we are hopeful that she will be one of those "lucky" patients!
We are on preventive therapy now, they do so here in Italy almost everywhere in the country...hope it will help the symptoms to never show!
It was really hard at first and still is...I could not believe she actually has it...but now I'm grateful she is doing so well and really optimistic for the future, especially since new meds are coming...and we think VX-770 might help with her second mutation (possibly a gating mutation like G551D). I have to say here in Italy everybody believes that a cure is coming and they (we!) are all very thrilled and hopeful for a better future for our kids and also adults with CF.
I am a non believer but I believe in love and think that our love will help our DD to thrive and be happy.
So, love to all of you out there, I'm happy there are others with which we can share our thoughts and feelings.
Happy new year, may this be the year that brings a cure for CF!
</end quote>
Hello,
I am also from Italy. We live close to Rome. My little girl also had elevated IRT levels and they ran a test for DNA mutazioni at Umberto I. The test result was negativebutWe are now waiting to have a sweat test done. I wanted to ask you some questions. Did your little girl show any symptoms i.e(salty skin, strange stools, etc?) Did she also preform a sweat test? How long for the results? Do you know how accurate the DNA test is? Thank you for your time and congrats on your little girl
I've been lurking for a few days now and wanted to introduce myself.
I am mom to a beautiful baby girl who is almost 3 mths now and was diagnosed with CF at the end of November. Diagnosis came as a shock to us as we had no clue we were carriers. Also, our girl has been thriving incredibly well - as a matter of fact she gained more than 7 lbs in 2 months!! We are from Italy (greater Rome area) so I'm not sure the conversion lbs/kilos is right..by the way she now weighs 6 kg and 300 grams and she was only 3 kgs and 100 grams when she left the hospital...!!
Everybody at the CF center was amazed by her incredible healthy status...her pancreas seems to be working very well and the chest RX was completely negative. She has DF508 and G85E mutation. The latter is known to be a missense variable mutation that can give milder disease to some CFers..we are hopeful that she will be one of those "lucky" patients!
We are on preventive therapy now, they do so here in Italy almost everywhere in the country...hope it will help the symptoms to never show!
It was really hard at first and still is...I could not believe she actually has it...but now I'm grateful she is doing so well and really optimistic for the future, especially since new meds are coming...and we think VX-770 might help with her second mutation (possibly a gating mutation like G551D). I have to say here in Italy everybody believes that a cure is coming and they (we!) are all very thrilled and hopeful for a better future for our kids and also adults with CF.
I am a non believer but I believe in love and think that our love will help our DD to thrive and be happy.
So, love to all of you out there, I'm happy there are others with which we can share our thoughts and feelings.
Happy new year, may this be the year that brings a cure for CF!
</end quote>
Hello,
I am also from Italy. We live close to Rome. My little girl also had elevated IRT levels and they ran a test for DNA mutazioni at Umberto I. The test result was negativebutWe are now waiting to have a sweat test done. I wanted to ask you some questions. Did your little girl show any symptoms i.e(salty skin, strange stools, etc?) Did she also preform a sweat test? How long for the results? Do you know how accurate the DNA test is? Thank you for your time and congrats on your little girl
A
ABray
Guest
Hey There,
Great to hear everyone's stories and glad your babies are well. I am from Australia and I have 7 1/2 month old twins Lucy and Lenny who both have CF. We found out that they were both carriers of F508del from the newborn screening test. At 8 weeks old they both had sweat tests to which my little girl came back positive and my little boy was intermediate. They re-tested my son a few weeks later and he was still intermediate, they tested him again at 7 months and was negative however the pathology results came back and found the second gene C.579+3a>g and they both had it.
Both of them haven't really shown much sign of it. So far are pancreatic sufficient, both have salty skin now and again and both put on weight. Not massive babies but are still around average for their age.
I haven't been able to find out much about the second gene as we are the only family in Australia with it. If anyone knows of anyways to find out please let me know.
Great to hear everyone's stories and glad your babies are well. I am from Australia and I have 7 1/2 month old twins Lucy and Lenny who both have CF. We found out that they were both carriers of F508del from the newborn screening test. At 8 weeks old they both had sweat tests to which my little girl came back positive and my little boy was intermediate. They re-tested my son a few weeks later and he was still intermediate, they tested him again at 7 months and was negative however the pathology results came back and found the second gene C.579+3a>g and they both had it.
Both of them haven't really shown much sign of it. So far are pancreatic sufficient, both have salty skin now and again and both put on weight. Not massive babies but are still around average for their age.
I haven't been able to find out much about the second gene as we are the only family in Australia with it. If anyone knows of anyways to find out please let me know.
A
ABray
Guest
Hey There,
Great to hear everyone's stories and glad your babies are well. I am from Australia and I have 7 1/2 month old twins Lucy and Lenny who both have CF. We found out that they were both carriers of F508del from the newborn screening test. At 8 weeks old they both had sweat tests to which my little girl came back positive and my little boy was intermediate. They re-tested my son a few weeks later and he was still intermediate, they tested him again at 7 months and was negative however the pathology results came back and found the second gene C.579+3a>g and they both had it.
Both of them haven't really shown much sign of it. So far are pancreatic sufficient, both have salty skin now and again and both put on weight. Not massive babies but are still around average for their age.
I haven't been able to find out much about the second gene as we are the only family in Australia with it. If anyone knows of anyways to find out please let me know.
Great to hear everyone's stories and glad your babies are well. I am from Australia and I have 7 1/2 month old twins Lucy and Lenny who both have CF. We found out that they were both carriers of F508del from the newborn screening test. At 8 weeks old they both had sweat tests to which my little girl came back positive and my little boy was intermediate. They re-tested my son a few weeks later and he was still intermediate, they tested him again at 7 months and was negative however the pathology results came back and found the second gene C.579+3a>g and they both had it.
Both of them haven't really shown much sign of it. So far are pancreatic sufficient, both have salty skin now and again and both put on weight. Not massive babies but are still around average for their age.
I haven't been able to find out much about the second gene as we are the only family in Australia with it. If anyone knows of anyways to find out please let me know.
Hey ABray, nice to read there are other families with kids doing very well! My girl now weighs more than 7 kilos...and she is not even 4months ols! They are all very amazed by her health at our center! We also like to stay very optimistic that she will never show symptoms and will be able to benefit of the amazing cures that are about to be released also for DF508rs. Gotta remember that every patient is a singular case and some people don't really get sick...ever....They know only so much about this disease and newborn screening has been performed only for a few years now. Not enough to really know if every person with 2 mutations will actually get sick!! My girl has had 3 sweat tests. First came back 70 and the other 2 were 93 and 95. They say this is not indicative of severity. She does not have salty skin at all. Her stools look fine for a breastfed baby, even though sometimes they tend to be a little on the liquid side, but I think that's normal. Our last fecal elastase came back normal, waiting for another result in a few days. Please, enzvel let us know about your baby!
Hey ABray, nice to read there are other families with kids doing very well! My girl now weighs more than 7 kilos...and she is not even 4months ols! They are all very amazed by her health at our center! We also like to stay very optimistic that she will never show symptoms and will be able to benefit of the amazing cures that are about to be released also for DF508rs. Gotta remember that every patient is a singular case and some people don't really get sick...ever....They know only so much about this disease and newborn screening has been performed only for a few years now. Not enough to really know if every person with 2 mutations will actually get sick!! My girl has had 3 sweat tests. First came back 70 and the other 2 were 93 and 95. They say this is not indicative of severity. She does not have salty skin at all. Her stools look fine for a breastfed baby, even though sometimes they tend to be a little on the liquid side, but I think that's normal. Our last fecal elastase came back normal, waiting for another result in a few days. Please, enzvel let us know about your baby!
AleksandraKaczynska
New member
Lilith - you may go on for many years without mayjor symptoms - and i WISH it with all my heart.
Poop a bit liquid - is o.k. :0 in baby on breastmilk. watch her weigh and height. My daughter does'nt need creon so far also - but it needs chequing cause it may change.
Enzvel - good luck.
Poop a bit liquid - is o.k. :0 in baby on breastmilk. watch her weigh and height. My daughter does'nt need creon so far also - but it needs chequing cause it may change.
Enzvel - good luck.
AleksandraKaczynska
New member
Lilith - you may go on for many years without mayjor symptoms - and i WISH it with all my heart.
Poop a bit liquid - is o.k. :0 in baby on breastmilk. watch her weigh and height. My daughter does'nt need creon so far also - but it needs chequing cause it may change.
Enzvel - good luck.
Poop a bit liquid - is o.k. :0 in baby on breastmilk. watch her weigh and height. My daughter does'nt need creon so far also - but it needs chequing cause it may change.
Enzvel - good luck.