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.
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.