Our beautiful baby daughter has cystic fibrosis
Discussion
Three weeks ago we had a beautiful baby girl, I'm 35 and my wife is 29. She is our first child. We did everything 'by the book' she ate what she had to and stopped whatever she had to, I waited until I was in what I believed was a secure as can be financial position. I was very worried about having kids as to me it's a real commitment that will always be there.
When she was born she was perfect, passing every test and basically being perfect. I felt an overwhelming sense of happiness I didn't know existed, I now knew why people had children!
On Wednesday the health visitor came round at 12 and said she's perfect, putting on weight etc, all good, my wife phones me saying how happy she is and we are both so happy.
4:30pm Wednesday that all comes crashing down, a phone call from great Ormand street explains the heal prick test has shown she has cystic fibrosis and they want us to come in at 11 the next morning.
So we go in. In her/our favour she has a 'mild' form. Genes df508 and r117h. We do not yet know which type (there are three types which as I understand it indicate severity. If she is 5t then it will likely show mild symptoms, 7t is unlikely to show symptoms and 9t is highly unlikely. Infact in france the genes she has if they are 9t are not classed as cystic fibrosis.
Right now today she is fine, no problems, we are awaiting a sweat test which if passes again indicates no symptoms, we are also awaiting a pass on a stool sample as cf can mess with your pancreas causing problems. Her stool again is normal.
I suppose I don't know why I'm posting, I suppose it's because I know ph is such a diverse group of great people who have helped me before.
The people we saw were quite blasé about it all, saying she will lead a normal life, saying she likely won't have problems but they do need to keep an eye on her. What worries me is I have found cases of cf with people having the same genes as her who have had terrible problems, granted I have also found several where they have nothing until 20's 30's some even 40's
They sold it to us that as she's a newborn they can keep on top of it.
For me the worry is not knowing what's going to happen, will she be fine? Will she live a life of pain? I suppose that's better than knowing it's a given she's got a life of pain ahead.
There is a drug now for this gene mutation which is by all accounts as good as a cure, it actually combats the root cause and not symptoms, people are calling it a miracle. However this isn't for people under 18. This seems to be because this gene mutation is known for not causing problems until later on, I suppose it's too expensive to just dish out when there may not be problems.
Theoretically and statistically she shouldn't have problems at least until later.
So is there anyone on here with experience in this? Do you lead normal lives (the hospital almost laughed when I said she won't lead a normal life). How do you cope, what's going to happen?
I'm really up and down and so is the wife, I know I need to be strong but I just feel a huge dark cloud is now hanging over us all. I personally feel that we all may never experience happiness again and that's eating me up.
I appreciate it could be much much worse, but it's just such a huge shock I'm struggling to cope and know how to proceed.
When she was born she was perfect, passing every test and basically being perfect. I felt an overwhelming sense of happiness I didn't know existed, I now knew why people had children!
On Wednesday the health visitor came round at 12 and said she's perfect, putting on weight etc, all good, my wife phones me saying how happy she is and we are both so happy.
4:30pm Wednesday that all comes crashing down, a phone call from great Ormand street explains the heal prick test has shown she has cystic fibrosis and they want us to come in at 11 the next morning.
So we go in. In her/our favour she has a 'mild' form. Genes df508 and r117h. We do not yet know which type (there are three types which as I understand it indicate severity. If she is 5t then it will likely show mild symptoms, 7t is unlikely to show symptoms and 9t is highly unlikely. Infact in france the genes she has if they are 9t are not classed as cystic fibrosis.
Right now today she is fine, no problems, we are awaiting a sweat test which if passes again indicates no symptoms, we are also awaiting a pass on a stool sample as cf can mess with your pancreas causing problems. Her stool again is normal.
I suppose I don't know why I'm posting, I suppose it's because I know ph is such a diverse group of great people who have helped me before.
The people we saw were quite blasé about it all, saying she will lead a normal life, saying she likely won't have problems but they do need to keep an eye on her. What worries me is I have found cases of cf with people having the same genes as her who have had terrible problems, granted I have also found several where they have nothing until 20's 30's some even 40's
They sold it to us that as she's a newborn they can keep on top of it.
For me the worry is not knowing what's going to happen, will she be fine? Will she live a life of pain? I suppose that's better than knowing it's a given she's got a life of pain ahead.
There is a drug now for this gene mutation which is by all accounts as good as a cure, it actually combats the root cause and not symptoms, people are calling it a miracle. However this isn't for people under 18. This seems to be because this gene mutation is known for not causing problems until later on, I suppose it's too expensive to just dish out when there may not be problems.
Theoretically and statistically she shouldn't have problems at least until later.
So is there anyone on here with experience in this? Do you lead normal lives (the hospital almost laughed when I said she won't lead a normal life). How do you cope, what's going to happen?
I'm really up and down and so is the wife, I know I need to be strong but I just feel a huge dark cloud is now hanging over us all. I personally feel that we all may never experience happiness again and that's eating me up.
I appreciate it could be much much worse, but it's just such a huge shock I'm struggling to cope and know how to proceed.
Thank you all so much for the nice replies 
The world we live in can be such a cruel cruel place, on the run up to the birth I started to really appreciate how hard it must be for parents with kids with problems.
I have been very very lucky in my life that there's been no one close to me who has had health problems (serious ones at least). I do have a knackered body from the job I do but I live with it (and it can really hurt).
When we were in the post natal unit there was a little boy who was having some problems, I don't know what they were, the mother also looked really bad/sad, maybe depressed and maybe even uninterested, I heard the midwives talking to her trying to make it better. I actually cried for that baby that night, I felt so sad for him. I hope he is now ok.
This evening we both do feel much better, mainly thinking and feeling what's already been posted. The human body and mind is incredible in that it can cope if you allow it to. I suppose the hard bit is getting to the stage where you can.
Normal life will ensue, and I assure you guys she will get a great life, she really will
The world we live in can be such a cruel cruel place, on the run up to the birth I started to really appreciate how hard it must be for parents with kids with problems.
I have been very very lucky in my life that there's been no one close to me who has had health problems (serious ones at least). I do have a knackered body from the job I do but I live with it (and it can really hurt).
When we were in the post natal unit there was a little boy who was having some problems, I don't know what they were, the mother also looked really bad/sad, maybe depressed and maybe even uninterested, I heard the midwives talking to her trying to make it better. I actually cried for that baby that night, I felt so sad for him. I hope he is now ok.
This evening we both do feel much better, mainly thinking and feeling what's already been posted. The human body and mind is incredible in that it can cope if you allow it to. I suppose the hard bit is getting to the stage where you can.
Normal life will ensue, and I assure you guys she will get a great life, she really will
Wow! That's so good to hear!'
The irony is it appears many people with cf are super fit, which whatever way you look at it is a good thing. While I'm medically healthy I'm not fit at all (like fry ups too much
) I also have two damaged discs in my back so running 5 miles there and back I just don't know,if I could ever do.
Today I feel quite positive, we registered her birth this morning, so she's now on the radar and is all set up for tax paying in future
Yesterday I had a bad day, I cried quite a bit. It's terms like : little lungs, life shortening, lung disease etc etc which really upset me. I am coming to terms with it. Like I said as well there's a very very good chance she won't actually ever show symptoms. As we have the prevailing sweat tests and find out the exact cftr mutation we will know more.
But I do know that whatever happens that for her it will be normal, she will know no different, for me and the mrs it's a case of maybe having to adapt. I do know though she will get to go in my tvr, I will teach her to drive my digger (how many kids do that! ) she's already got Ralph the dog as a little best friend and she has all grandparents and parents around her. It could be a lot lot worse!
As a side note. I've read so much in this the last few days, forums, websites, medical studies and more. I do truly believe that there's a lot of un diagnosed cases out there.
The way it's screened for now it's still easy to miss. If only one genotype is found and a sweat test passed they are sent off packing. In our case I could almost even say we have been lucky that her second gene although not common is common enough to come under testing.
As such people could live many many years with no problem, which is supported by comments like yours about much older people being diagnosed. I read of a newly diagnosed 74 year old yesterday.
Testing will show more. A few years back 7000 people in the uk had it. Since testing 9000 now have it. That's quite a jump in a short space of time. And that's not allowing for missed cases.
Today when we registered the birth the lady who dealt with it was explaining about her granddaughters. They have both shown cf symptoms, have been hospitalised, one has to use a "breathing mask" I can only assume is a nebuliser. They both passed sweat tests one has to take a pill every day "for her lungs"
But no cf diagnosis as it appears it wasn't picked up on heal prick test. I suppose that if the itr level is not too high (which it doesn't have to be) they won't be testing the gene types.
Found that interesting.
The irony is it appears many people with cf are super fit, which whatever way you look at it is a good thing. While I'm medically healthy I'm not fit at all (like fry ups too much
) I also have two damaged discs in my back so running 5 miles there and back I just don't know,if I could ever do.Today I feel quite positive, we registered her birth this morning, so she's now on the radar and is all set up for tax paying in future
Yesterday I had a bad day, I cried quite a bit. It's terms like : little lungs, life shortening, lung disease etc etc which really upset me. I am coming to terms with it. Like I said as well there's a very very good chance she won't actually ever show symptoms. As we have the prevailing sweat tests and find out the exact cftr mutation we will know more.
But I do know that whatever happens that for her it will be normal, she will know no different, for me and the mrs it's a case of maybe having to adapt. I do know though she will get to go in my tvr, I will teach her to drive my digger (how many kids do that! ) she's already got Ralph the dog as a little best friend and she has all grandparents and parents around her. It could be a lot lot worse!
As a side note. I've read so much in this the last few days, forums, websites, medical studies and more. I do truly believe that there's a lot of un diagnosed cases out there.
The way it's screened for now it's still easy to miss. If only one genotype is found and a sweat test passed they are sent off packing. In our case I could almost even say we have been lucky that her second gene although not common is common enough to come under testing.
As such people could live many many years with no problem, which is supported by comments like yours about much older people being diagnosed. I read of a newly diagnosed 74 year old yesterday.
Testing will show more. A few years back 7000 people in the uk had it. Since testing 9000 now have it. That's quite a jump in a short space of time. And that's not allowing for missed cases.
Today when we registered the birth the lady who dealt with it was explaining about her granddaughters. They have both shown cf symptoms, have been hospitalised, one has to use a "breathing mask" I can only assume is a nebuliser. They both passed sweat tests one has to take a pill every day "for her lungs"
But no cf diagnosis as it appears it wasn't picked up on heal prick test. I suppose that if the itr level is not too high (which it doesn't have to be) they won't be testing the gene types.
Found that interesting.
Thank you all so much for the kind replies and thank you for the offers of offline support, it really means a lot to know that effectively strangers are so willing to help.
If you sift out all the s
t on pistonheads it does expose that there are some very very decent people out there
Day by day things are improving, I think once all diagnosis are in then there may be another down, but there may be an up so I'm not trying to think too much about that. I know normality will ensue.
The strangest most un expected emotion I have experienced was the other night, I was sat on the sofa and my wife was sat eating her dinner at the table. For the first time in the ten years we have been together I felt sorry for her when I looked over. Sorry that a "normal" baby life she so desperately wanted just might not happen, sorry that she's got to go through all this. She is a strong woman with a good job, she's never had my pity before. For feeling like that I felt sad and maybe angry, if she knew I felt like that she would be so upset.
It's given me a greater respect for her, she's gone through the pregnancy and worried so much about a lot of things, then for this to happen.
I need to toughen up as well, I need to go back to work properly, I've lost my drive which is dangerous as I have my own company and have to generate every penny from the ground up. This morning I was physically sick, although I think that's because I ate about 6 tacos last night because I barely ate yesterday. Although the stress won't help. Luckily for now I have lots of work and other people who can do it so that's a relief.
We are back up there tomorrow. I'll keep you all updated
and thank you for the offers of offline support, it really means a lot to know that effectively strangers are so willing to help. If you sift out all the s
t on pistonheads it does expose that there are some very very decent people out there Day by day things are improving, I think once all diagnosis are in then there may be another down, but there may be an up so I'm not trying to think too much about that. I know normality will ensue.
The strangest most un expected emotion I have experienced was the other night, I was sat on the sofa and my wife was sat eating her dinner at the table. For the first time in the ten years we have been together I felt sorry for her when I looked over. Sorry that a "normal" baby life she so desperately wanted just might not happen, sorry that she's got to go through all this. She is a strong woman with a good job, she's never had my pity before. For feeling like that I felt sad and maybe angry, if she knew I felt like that she would be so upset.
It's given me a greater respect for her, she's gone through the pregnancy and worried so much about a lot of things, then for this to happen.
I need to toughen up as well, I need to go back to work properly, I've lost my drive which is dangerous as I have my own company and have to generate every penny from the ground up. This morning I was physically sick, although I think that's because I ate about 6 tacos last night because I barely ate yesterday. Although the stress won't help. Luckily for now I have lots of work and other people who can do it so that's a relief.
We are back up there tomorrow. I'll keep you all updated
Oh I agree Eric, and no it didn't come across as that. After what has gone on I felt your pain.
As someone else said earlier on it's only me who will cause a problem.
As the days go on we are both getting to grips with it, I went to work today and apart from some costly crap that's gone on I enjoyed it and felt good.
I am coming to the opinion that none of us know how long us or loved ones will be here, as such it is SO important to make the most of life. It's made me want to work even harder so I can give her life experiences even I haven't had (plus I want them as well )
I also think I've been incredibly blasé about health in general, I have taken it for granted. I appreciate it more than ever, once a couple of years ago I had a small cancer scare, of course it was ok and I'm back taking for granted good health.
We all get one life, and as they say it isn't a dress rehearsal
As someone else said earlier on it's only me who will cause a problem.
As the days go on we are both getting to grips with it, I went to work today and apart from some costly crap that's gone on I enjoyed it and felt good.
I am coming to the opinion that none of us know how long us or loved ones will be here, as such it is SO important to make the most of life. It's made me want to work even harder so I can give her life experiences even I haven't had (plus I want them as well
) I also think I've been incredibly blasé about health in general, I have taken it for granted. I appreciate it more than ever, once a couple of years ago I had a small cancer scare, of course it was ok and I'm back taking for granted good health.
We all get one life, and as they say it isn't a dress rehearsal
I agree with having the heal prick test done, it can and does save lives, madness not to IMO.
In any case we have had some good news this week, the little ones test results have come back as pancreas sufficient and also the actual r117h gene type has come back as r117h 7t/9t.
Right now I'm not sure what the 7t/9t means but it is good. I can only assume they can't determine it's 7 or 9 or there are two tracts there. Even the hospital didn't know so at some stage I'm hoping a consultant can tell me.
It's so rare I can't find anything apart from one forum post and one medical study. In some countries it appears it wouldn't even be classed as cf.
while it would have been nice to have not had this in a way I'm pleased it's been picked up. Gosh is such a good hospital, she's in the best hands no matter what. She may or may not ever have problems. But if she does they are there. We've started the physio already which I can clearly see is great. If you keep the lungs clear then infection is less likely to set in which is why even with more severe cases life expectancy is so much better.
I'd like to thank everyone so much for the advice in what's been the darkest week of our lives, your posts and comments really helped us both. You have all helped lift that dark cloud
In any case we have had some good news this week, the little ones test results have come back as pancreas sufficient and also the actual r117h gene type has come back as r117h 7t/9t.
Right now I'm not sure what the 7t/9t means but it is good. I can only assume they can't determine it's 7 or 9 or there are two tracts there. Even the hospital didn't know so at some stage I'm hoping a consultant can tell me.
It's so rare I can't find anything apart from one forum post and one medical study. In some countries it appears it wouldn't even be classed as cf.
while it would have been nice to have not had this in a way I'm pleased it's been picked up. Gosh is such a good hospital, she's in the best hands no matter what. She may or may not ever have problems. But if she does they are there. We've started the physio already which I can clearly see is great. If you keep the lungs clear then infection is less likely to set in which is why even with more severe cases life expectancy is so much better.
I'd like to thank everyone so much for the advice in what's been the darkest week of our lives, your posts and comments really helped us both. You have all helped lift that dark cloud
Again thanks all
No new news really, she had her lung test done, 2 results normal one slightly above which is being disregarded as the other two are alright.
She is really well and even said hello a couple of times (at 3 months)
She cultured psuedonomas bacteria which we don't know where it came from but it cleared in days with anti biotics and has been clear now. We do have a dog and I work with soil so very likely from one of us (it lived in soil and stagnant water).
They are also now calling her diagnosis cf spid which basically means she's screened positive but hasn't actually got classic cf.
half the medical community don't want her genes to be called cf and half do for safety's sake.
She's a lovely little thing
No new news really, she had her lung test done, 2 results normal one slightly above which is being disregarded as the other two are alright.
She is really well and even said hello a couple of times
(at 3 months)She cultured psuedonomas bacteria which we don't know where it came from but it cleared in days with anti biotics and has been clear now. We do have a dog and I work with soil so very likely from one of us (it lived in soil and stagnant water).
They are also now calling her diagnosis cf spid which basically means she's screened positive but hasn't actually got classic cf.
half the medical community don't want her genes to be called cf and half do for safety's sake.
She's a lovely little thing
Gassing Station | Health Matters | Top of Page | What's New | My Stuff