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.
Most importantly... Congratulations on the birth of your little girl!
In all honesty I think it's what you decide is a barrier at this point in time. If you look at CF life expectancy its doubled in 30 years and there's so much more done now that can help manage the disease. You can tell from you post that you love both your daughter and your wife very much, so use that love and remember that the advances in medicine won't stop.
I wish I had some more personal advice to give but seriously staying positive really will help. I have relations that have struggled with cancer for nearly 15 years now and without a positive approach they wouldn't still be here, trying new treatments and enjoying a controlled but reasonable quality life.
Keep us updated on how she is! Enjoy being a dad... It's great!
Chris
In all honesty I think it's what you decide is a barrier at this point in time. If you look at CF life expectancy its doubled in 30 years and there's so much more done now that can help manage the disease. You can tell from you post that you love both your daughter and your wife very much, so use that love and remember that the advances in medicine won't stop.
I wish I had some more personal advice to give but seriously staying positive really will help. I have relations that have struggled with cancer for nearly 15 years now and without a positive approach they wouldn't still be here, trying new treatments and enjoying a controlled but reasonable quality life.
Keep us updated on how she is! Enjoy being a dad... It's great!
Chris
I've just finished treating a Trawlerman with a broken arm who has cystic fibrosis.
Think "Deadliest Catch" on TV, that's what he does with his CF.
Health problems: broke his arm. Ok, he has treatment for his chest sometimes, but he's out there living his life.
Concentrate on what an amazing life she's going to have, not what she can't do.
Maybe we'll cure it in 12 years......
Think "Deadliest Catch" on TV, that's what he does with his CF.
Health problems: broke his arm. Ok, he has treatment for his chest sometimes, but he's out there living his life.
Concentrate on what an amazing life she's going to have, not what she can't do.
Maybe we'll cure it in 12 years......
Enjoy your daughter, try not to worry too much about the CF. We have one of the best health services in the world in this country, with some of the best research scientists. Judging by your message i think your daughter will be one of the most well looked after children, so she is already very lucky. Dont think about what might happen, take each day as it comes and be strong.
Good luck, children adapt and cope with many things adults struggle to handle. I know as I have 2 of them!
Good luck, children adapt and cope with many things adults struggle to handle. I know as I have 2 of them!
Your own children are wonderful.
You will worry about them until you die.
They will almost certainly be happy and fulfilled.
You will still worry.
They will still be happy.
You will be the only one that allows this to become a problem.
Love her and and enjoy these early days, they so quickly pass.
You will worry about them until you die.
They will almost certainly be happy and fulfilled.
You will still worry.
They will still be happy.
You will be the only one that allows this to become a problem.
Love her and and enjoy these early days, they so quickly pass.
CharlesdeGaulle said:
Your own children are wonderful.
You will worry about them until you die.
They will almost certainly be happy and fulfilled.
You will still worry.
They will still be happy.
You will be the only one that allows this to become a problem.
Love her and and enjoy these early days, they so quickly pass.
+1You will worry about them until you die.
They will almost certainly be happy and fulfilled.
You will still worry.
They will still be happy.
You will be the only one that allows this to become a problem.
Love her and and enjoy these early days, they so quickly pass.
Especially the bit in bold. You never get that time back. Be wary of not appreciating it, it's a very special time and impacts tremendously on both of your future lives.
Really.
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
My son, born perfect, is severely autistic.
I remember the day he was diagnosed like it was yesterday, tomorrow is his 19th birthday.
OP, I went through the same rollercoaster of emotions and, to be honest, the "Why Me? Why Us?" still resonates as loudly as it ever did.
Having my child diagnosed with a permanent life changing illness/disability was the hardest thing I`ve ever had to deal with.
I suspect you're feeling the same way I did all those years ago, you have my sympathies, you really do.
All I can do is wish you and your family well, and hope desperately, that the illness will be as mild a form as it can possibly be.
Good luck Bud.
I remember the day he was diagnosed like it was yesterday, tomorrow is his 19th birthday.
OP, I went through the same rollercoaster of emotions and, to be honest, the "Why Me? Why Us?" still resonates as loudly as it ever did.
Having my child diagnosed with a permanent life changing illness/disability was the hardest thing I`ve ever had to deal with.
I suspect you're feeling the same way I did all those years ago, you have my sympathies, you really do.
All I can do is wish you and your family well, and hope desperately, that the illness will be as mild a form as it can possibly be.
Good luck Bud.
Hammer67 said:
My son, born perfect, is severely autistic.
I remember the day he was diagnosed like it was yesterday, tomorrow is his 19th birthday.
OP, I went through the same rollercoaster of emotions and, to be honest, the "Why Me? Why Us?" still resonates as loudly as it ever did.
Having my child diagnosed with a permanent life changing illness/disability was the hardest thing I`ve ever had to deal with.
I suspect you're feeling the same way I did all those years ago, you have my sympathies, you really do.
All I can do is wish you and your family well, and hope desperately, that the illness will be as mild a form as it can possibly be.
Good luck Bud.
Respect.I remember the day he was diagnosed like it was yesterday, tomorrow is his 19th birthday.
OP, I went through the same rollercoaster of emotions and, to be honest, the "Why Me? Why Us?" still resonates as loudly as it ever did.
Having my child diagnosed with a permanent life changing illness/disability was the hardest thing I`ve ever had to deal with.
I suspect you're feeling the same way I did all those years ago, you have my sympathies, you really do.
All I can do is wish you and your family well, and hope desperately, that the illness will be as mild a form as it can possibly be.
Good luck Bud.
I gpod friend's Fiance has C.F. and he's nearly 30 and doing quite well with it. He's ran marathons; cycles, runs and rock climbs frequently. Yes he has the occasional struggle with chest infections but the treatment has moved on rapidly in a generation.
From what I know of youngsters with C.F., fitness is key. She'll be doing her first triathlon at 14, just you wait.
From what I know of youngsters with C.F., fitness is key. She'll be doing her first triathlon at 14, just you wait.
OP, I have CF, am 45 next month and yes I'm wearing up. When I was diagnosed at age 6 I was given another 10 years tops - so I'm well beyond my alleged best before date.
Medical improvements in the intervening years have been huge and a child born today has vastly improved chances of becoming a grumpy old pensioner. I have a chap in my clinic recently diagnosed at 63. The oldest I have come across was 93. The variations are massive. I have a delta f508 and an N1303k. It sounds like your daughter has, if there can be such a thing, a good CF and a bright outlook.
As a child I was extremely active and became a competitive swimmer, played hockey for my school first XI and for my local club. I cycled or ran, often to school and back (5 miles each way) and was fitter than many of my counterparts. I always had issues, until my 20s nothing major at all, but have still crammed masses into my life. I rode motorbikes for 18+ years, enjoying the freedom and thrills and now I coach softball (like baseball) as long as it's not too chilly and I can have my folding chair with me
I also worked for the CF Trust and have a mass of experience within the CF community and hospitals. If you wish to contact me then please drop me a PM. You'll hear a lot of rubbish talked by pub experts, most of it negative and ill founded. Pleased to see on here that the others are being upbeat and supportive, that's what you need
Oh and in case it hasn't been made obvious by me and the others: exercise, fresh air, more exercise, running about playing, more exercise and doing kid stuff. No cotton wool wrapping. The only thing you should wrap her in is attitude to push forward! Most of us have bags of it and it can be quite intimidating for others
Best regards, SF
Medical improvements in the intervening years have been huge and a child born today has vastly improved chances of becoming a grumpy old pensioner. I have a chap in my clinic recently diagnosed at 63. The oldest I have come across was 93. The variations are massive. I have a delta f508 and an N1303k. It sounds like your daughter has, if there can be such a thing, a good CF and a bright outlook.
As a child I was extremely active and became a competitive swimmer, played hockey for my school first XI and for my local club. I cycled or ran, often to school and back (5 miles each way) and was fitter than many of my counterparts. I always had issues, until my 20s nothing major at all, but have still crammed masses into my life. I rode motorbikes for 18+ years, enjoying the freedom and thrills and now I coach softball (like baseball) as long as it's not too chilly and I can have my folding chair with me
I also worked for the CF Trust and have a mass of experience within the CF community and hospitals. If you wish to contact me then please drop me a PM. You'll hear a lot of rubbish talked by pub experts, most of it negative and ill founded. Pleased to see on here that the others are being upbeat and supportive, that's what you need
Oh and in case it hasn't been made obvious by me and the others: exercise, fresh air, more exercise, running about playing, more exercise and doing kid stuff. No cotton wool wrapping. The only thing you should wrap her in is attitude to push forward! Most of us have bags of it and it can be quite intimidating for others
Best regards, SF
Edited by Six Fiend on Monday 23 November 12:33
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.
Congratulations on doing everything right so far. Good parenting, to me, is simply caring about being a good parent. It's not following some rule book to the letter, or doing one particular thing one particular way. It's about trying as hard as you can, because there is so often no right or wrong. If you try, you're ok in my book, regardless of the results. Bad parents don't care they're bad parents. Good parents care about little else, and they still screw up allll the time. And that's just the things you have some control over. As for the things you don't, well, ain't nobody ever gonna hold that against you. So, you're already doing everything right. Just so you know.
I have no useful experience for you, except a small observation which you've probably already made yourself: it's amazing how young they are when they start to pick up on your body language, facial expressions, stress levels, tone of voice, even your heart rate when you hold them. The more you worry, they more they worry. I cannot sensibly advise that you should stop worrying, but know that your kids will grow up to be almost precisely as happy as you are (or as they perceive you to be) when you're with them. What's different about them compared to others won't come into play for a long time. I just know that when I'm struggling, and I've checked all The Troika (hungry, wet, tired) and nothing else is working, I go back to basics: be calm and happy, and they pick up on it and all is well again.
I have no useful experience for you, except a small observation which you've probably already made yourself: it's amazing how young they are when they start to pick up on your body language, facial expressions, stress levels, tone of voice, even your heart rate when you hold them. The more you worry, they more they worry. I cannot sensibly advise that you should stop worrying, but know that your kids will grow up to be almost precisely as happy as you are (or as they perceive you to be) when you're with them. What's different about them compared to others won't come into play for a long time. I just know that when I'm struggling, and I've checked all The Troika (hungry, wet, tired) and nothing else is working, I go back to basics: be calm and happy, and they pick up on it and all is well again.
Edited by TartanPaint on Monday 23 November 14:39
My daughter, 11, was diagnosed with CF (double DF508 gene)when she was about 9 months old. She had the generic 'failure to thrive' tag because she was not putting on any weight and was diagnosed after a capillary (?) test. Much the same as you, the bottom fell out of our world. However, once the dust has settled (which is quickly) you just get into the routine.
She is ballsy as hell; for an eleven year old she is so socially advanced due to having to meet untold amounts of medical staff at one time or another, and apart from a couple of hospital stays for iv antibiotics this year has been in rude health. I am now trying to get her into some kind of sport to go with gymnastics as she needs something to physically extend her. Having a worse year due to catching nasty bugs has made us re-assess her needs a little.
As stated before, don't wrap them in cotton wool. It'll pay dividends in the future.
Good luck, and if you want to ask anything offline message me on here.
She is ballsy as hell; for an eleven year old she is so socially advanced due to having to meet untold amounts of medical staff at one time or another, and apart from a couple of hospital stays for iv antibiotics this year has been in rude health. I am now trying to get her into some kind of sport to go with gymnastics as she needs something to physically extend her. Having a worse year due to catching nasty bugs has made us re-assess her needs a little.
As stated before, don't wrap them in cotton wool. It'll pay dividends in the future.
Good luck, and if you want to ask anything offline message me on here.
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