Young Single mum dealing with newborn daughter with CF

K

KatnAshlee

Guest
Hi there Steve, and anyone else who is able to help......

I am currently in hospital with my 3month daughter who has had ongoing breathing issues since birth. The breathing does not distress her in the slighest, infact it is me that is pulling my hair out. Trying to understand CF and the different severitys has been stressful on top of the hospital not being able to confirm what is causing the fast resporiatory rate. Since birth she has had irregular breathing patterns that seems to take a lot of effort and work from the stomach area. Due to this it has affected her feeding, but apart from that she is very happy, and the doctors cant believe how healthy looking she is. What concerns me is the irregular breathing where her rest rate reaches anywhere from 80-110. They have called it periodic breathing patterns, and are mystified as what is causing it.

(a) Numerous tests have come back for negetive infection
(b) ECG and Echo tests look normal
(c) Xrays show no patchyness to lung area, and temperature has been consistently normal

Apart from no answers for the erratic breathing, I am really intrested in learning about her genes. I have been told I could be waiting 2-3 months to meet the genetics team.
I would really like to hear from people who have the same combination of mutations, and Steve are you able to advise me how many people have this in your datbase (plz I am so desperate from some answers regarding her gene combination)
I have read through you entire message board, and have enjoyed learning more about genetics and peoples experiences, but would love to hear of the charactistrics of her mutations seen in CF, and most of all class and severity of these.

G542X (c.1624G>T)
L671X (c.2012delT)

My daughter is pancratic insufficient and seems to be working well with the enzymes, although due to the energy she is burning off with the breathing we are currently tube feeding her as she gets to tired, or is just not interested in her feeding. Im really struggling at the moment and am not sure how much I can take. The only thing keeping me going is that my daughter is the most beautiful girl, who is always so happy and smiling.

Any, any advice or feedback would be greatly appreciated.
 
K

KatnAshlee

Guest
Hi there Steve, and anyone else who is able to help......

I am currently in hospital with my 3month daughter who has had ongoing breathing issues since birth. The breathing does not distress her in the slighest, infact it is me that is pulling my hair out. Trying to understand CF and the different severitys has been stressful on top of the hospital not being able to confirm what is causing the fast resporiatory rate. Since birth she has had irregular breathing patterns that seems to take a lot of effort and work from the stomach area. Due to this it has affected her feeding, but apart from that she is very happy, and the doctors cant believe how healthy looking she is. What concerns me is the irregular breathing where her rest rate reaches anywhere from 80-110. They have called it periodic breathing patterns, and are mystified as what is causing it.

(a) Numerous tests have come back for negetive infection
(b) ECG and Echo tests look normal
(c) Xrays show no patchyness to lung area, and temperature has been consistently normal

Apart from no answers for the erratic breathing, I am really intrested in learning about her genes. I have been told I could be waiting 2-3 months to meet the genetics team.
I would really like to hear from people who have the same combination of mutations, and Steve are you able to advise me how many people have this in your datbase (plz I am so desperate from some answers regarding her gene combination)
I have read through you entire message board, and have enjoyed learning more about genetics and peoples experiences, but would love to hear of the charactistrics of her mutations seen in CF, and most of all class and severity of these.

G542X (c.1624G>T)
L671X (c.2012delT)

My daughter is pancratic insufficient and seems to be working well with the enzymes, although due to the energy she is burning off with the breathing we are currently tube feeding her as she gets to tired, or is just not interested in her feeding. Im really struggling at the moment and am not sure how much I can take. The only thing keeping me going is that my daughter is the most beautiful girl, who is always so happy and smiling.

Any, any advice or feedback would be greatly appreciated.
 
K

KatnAshlee

Guest
Hi there Steve, and anyone else who is able to help......
<br />
<br />I am currently in hospital with my 3month daughter who has had ongoing breathing issues since birth. The breathing does not distress her in the slighest, infact it is me that is pulling my hair out. Trying to understand CF and the different severitys has been stressful on top of the hospital not being able to confirm what is causing the fast resporiatory rate. Since birth she has had irregular breathing patterns that seems to take a lot of effort and work from the stomach area. Due to this it has affected her feeding, but apart from that she is very happy, and the doctors cant believe how healthy looking she is. What concerns me is the irregular breathing where her rest rate reaches anywhere from 80-110. They have called it periodic breathing patterns, and are mystified as what is causing it.
<br />
<br />(a) Numerous tests have come back for negetive infection
<br />(b) ECG and Echo tests look normal
<br />(c) Xrays show no patchyness to lung area, and temperature has been consistently normal
<br />
<br />Apart from no answers for the erratic breathing, I am really intrested in learning about her genes. I have been told I could be waiting 2-3 months to meet the genetics team.
<br />I would really like to hear from people who have the same combination of mutations, and Steve are you able to advise me how many people have this in your datbase (plz I am so desperate from some answers regarding her gene combination)
<br />I have read through you entire message board, and have enjoyed learning more about genetics and peoples experiences, but would love to hear of the charactistrics of her mutations seen in CF, and most of all class and severity of these.
<br />
<br />G542X (c.1624G>T)
<br />L671X (c.2012delT)
<br />
<br />My daughter is pancratic insufficient and seems to be working well with the enzymes, although due to the energy she is burning off with the breathing we are currently tube feeding her as she gets to tired, or is just not interested in her feeding. Im really struggling at the moment and am not sure how much I can take. The only thing keeping me going is that my daughter is the most beautiful girl, who is always so happy and smiling.
<br />
<br />Any, any advice or feedback would be greatly appreciated.
 
M

Mommafirst

Guest
Hi and welcome to the place you never thought you'd need. I'm so very sorry for all you are going through. CF is a tough diagnosis, but add to it all the problems your precious little one is dealing with AND that you are young and doing this alone, you must be very stressed right now. I know its hard, but hopefully it will get easier over time.

I really have no suggestions regarding the fast resp rate, but I'd think that despite a clean culture and X-ray that she has something going on in there. Neither are great diagnostics. Have they done a bronchoscopy?? Maybe that would give them a better idea of how to help.

As for those mutations, they look to me to both be Class 1 non-sense mutations. I don't know anyone with that exact combination, but non-sense mutations cause the CFTR protein to not function at all. Thus the combination would mean a pretty typical CF with the kind of symptoms you are already seeing. I'm sorry I can't give you better news about that. My daughter has one non-sense mutation, and one that we don't really know the class of.

((((HUGS)))) Welcome to the site. I hope you will find all the love and support you need to cope as you go through this CF journey.
 
M

Mommafirst

Guest
Hi and welcome to the place you never thought you'd need. I'm so very sorry for all you are going through. CF is a tough diagnosis, but add to it all the problems your precious little one is dealing with AND that you are young and doing this alone, you must be very stressed right now. I know its hard, but hopefully it will get easier over time.

I really have no suggestions regarding the fast resp rate, but I'd think that despite a clean culture and X-ray that she has something going on in there. Neither are great diagnostics. Have they done a bronchoscopy?? Maybe that would give them a better idea of how to help.

As for those mutations, they look to me to both be Class 1 non-sense mutations. I don't know anyone with that exact combination, but non-sense mutations cause the CFTR protein to not function at all. Thus the combination would mean a pretty typical CF with the kind of symptoms you are already seeing. I'm sorry I can't give you better news about that. My daughter has one non-sense mutation, and one that we don't really know the class of.

((((HUGS)))) Welcome to the site. I hope you will find all the love and support you need to cope as you go through this CF journey.
 
M

Mommafirst

Guest
Hi and welcome to the place you never thought you'd need. I'm so very sorry for all you are going through. CF is a tough diagnosis, but add to it all the problems your precious little one is dealing with AND that you are young and doing this alone, you must be very stressed right now. I know its hard, but hopefully it will get easier over time.
<br />
<br />I really have no suggestions regarding the fast resp rate, but I'd think that despite a clean culture and X-ray that she has something going on in there. Neither are great diagnostics. Have they done a bronchoscopy?? Maybe that would give them a better idea of how to help.
<br />
<br />As for those mutations, they look to me to both be Class 1 non-sense mutations. I don't know anyone with that exact combination, but non-sense mutations cause the CFTR protein to not function at all. Thus the combination would mean a pretty typical CF with the kind of symptoms you are already seeing. I'm sorry I can't give you better news about that. My daughter has one non-sense mutation, and one that we don't really know the class of.
<br />
<br />((((HUGS)))) Welcome to the site. I hope you will find all the love and support you need to cope as you go through this CF journey.
 
K

KatnAshlee

Guest
Hi Mommafirst

Thank you for your support, and prompt response. Yes dealing wtih CF has been an uphill battle, without the additonal stress, but I do have a little faith in undederstanding now what the condition is, especially when me or her father and both families never had any idea it was within our families.

However, im still struggling with the stomach breathing effortand not having any answers as to why she has to work so hard. Her oxgen levels are as good as they can get, but I am scared that working so hard can not be healthy. Im sure there has to be something to cause this effort, and the doctors agree with me, they are just unsure why and what to do next.

It brings great comfort to have found this site, and read so many people who have great strength in all the difficulties surrounding the unknown!
 
K

KatnAshlee

Guest
Hi Mommafirst

Thank you for your support, and prompt response. Yes dealing wtih CF has been an uphill battle, without the additonal stress, but I do have a little faith in undederstanding now what the condition is, especially when me or her father and both families never had any idea it was within our families.

However, im still struggling with the stomach breathing effortand not having any answers as to why she has to work so hard. Her oxgen levels are as good as they can get, but I am scared that working so hard can not be healthy. Im sure there has to be something to cause this effort, and the doctors agree with me, they are just unsure why and what to do next.

It brings great comfort to have found this site, and read so many people who have great strength in all the difficulties surrounding the unknown!
 
K

KatnAshlee

Guest
Hi Mommafirst
<br />
<br />Thank you for your support, and prompt response. Yes dealing wtih CF has been an uphill battle, without the additonal stress, but I do have a little faith in undederstanding now what the condition is, especially when me or her father and both families never had any idea it was within our families.
<br />
<br />However, im still struggling with the stomach breathing effortand not having any answers as to why she has to work so hard. Her oxgen levels are as good as they can get, but I am scared that working so hard can not be healthy. Im sure there has to be something to cause this effort, and the doctors agree with me, they are just unsure why and what to do next.
<br />
<br />It brings great comfort to have found this site, and read so many people who have great strength in all the difficulties surrounding the unknown!
 
R

Ratatosk

Administrator
Staff member
I seem to recall DS having a faster respiratory rate when he was around that age -- no fever or cough at the time -- he'd previously been treated for bronchitis and was culturing something he brought home from the NICU. His doctor pointed out the stomach breathing and mentioned air trapping. I believe we were told to increase chest physiotherapy, keep an eye on his respiratory rate.

With him the increased respiratory rate and decreased feeding was always a sign that he was coming down with something. Usually it was an ear or sinus infection. To this day I still listen, count his breaths while he sleeps from time to time.
 
R

Ratatosk

Administrator
Staff member
I seem to recall DS having a faster respiratory rate when he was around that age -- no fever or cough at the time -- he'd previously been treated for bronchitis and was culturing something he brought home from the NICU. His doctor pointed out the stomach breathing and mentioned air trapping. I believe we were told to increase chest physiotherapy, keep an eye on his respiratory rate.

With him the increased respiratory rate and decreased feeding was always a sign that he was coming down with something. Usually it was an ear or sinus infection. To this day I still listen, count his breaths while he sleeps from time to time.
 
R

Ratatosk

Administrator
Staff member
I seem to recall DS having a faster respiratory rate when he was around that age -- no fever or cough at the time -- he'd previously been treated for bronchitis and was culturing something he brought home from the NICU. His doctor pointed out the stomach breathing and mentioned air trapping. I believe we were told to increase chest physiotherapy, keep an eye on his respiratory rate.
<br />
<br />With him the increased respiratory rate and decreased feeding was always a sign that he was coming down with something. Usually it was an ear or sinus infection. To this day I still listen, count his breaths while he sleeps from time to time.
 
K

KatnAshlee

Guest
Thanks for your reply Ratatosk.
They have done a number of cultures and it never comes back with anthing. She is 3 months and we have spent 1.5 months in total in hospital with no positive cultures. somtimes it would be easier if that was the case so at least I had an answer.
Will defintley increase the physio as you mentioned, and hopefully that helps. I didnt realise they could build up muscus so young
Thank you
 
K

KatnAshlee

Guest
Thanks for your reply Ratatosk.
They have done a number of cultures and it never comes back with anthing. She is 3 months and we have spent 1.5 months in total in hospital with no positive cultures. somtimes it would be easier if that was the case so at least I had an answer.
Will defintley increase the physio as you mentioned, and hopefully that helps. I didnt realise they could build up muscus so young
Thank you
 
K

KatnAshlee

Guest
Thanks for your reply Ratatosk.
<br />They have done a number of cultures and it never comes back with anthing. She is 3 months and we have spent 1.5 months in total in hospital with no positive cultures. somtimes it would be easier if that was the case so at least I had an answer.
<br />Will defintley increase the physio as you mentioned, and hopefully that helps. I didnt realise they could build up muscus so young
<br />Thank you
 
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