Anyone with same gonotype (F508del/2789+5G>A)-need some guidance!

L

litsa

New member
Hello everyone, I am mum to a 14month old boy with F508del/2789+5G>A gonotype. He never had any lung problems, he gained weight fine, till last summer when he was diagnosed due to loss of electrolytes. After going on enzymes (creon 10000, 1/4 of the capsule twice daily) and aquadek (2ml daily). We do pt 3 times a day.
I was wondering if there is anyone with this gonotype here, or a mum with a child with this gonotype, as I would like to know what symptoms do you have to deal with, how the disease was first diagnosed(symptoms), how does it progress(if you are more than our age). Is this gonotype described mild as they do in my country? And what does the term mild mean? I have lots more questions, but I think that's enough for now! Thank you for reading me and for your time,
Keep well.
 
L

litsa

New member
Hello everyone, I am mum to a 14month old boy with F508del/2789+5G>A gonotype. He never had any lung problems, he gained weight fine, till last summer when he was diagnosed due to loss of electrolytes. After going on enzymes (creon 10000, 1/4 of the capsule twice daily) and aquadek (2ml daily). We do pt 3 times a day.
I was wondering if there is anyone with this gonotype here, or a mum with a child with this gonotype, as I would like to know what symptoms do you have to deal with, how the disease was first diagnosed(symptoms), how does it progress(if you are more than our age). Is this gonotype described mild as they do in my country? And what does the term mild mean? I have lots more questions, but I think that's enough for now! Thank you for reading me and for your time,
Keep well.
 
M

Mommafirst

Guest
Hi Litsa, I understand the compelling need to know what these two mutations will mean for your child. Unfortunately, even if you can find others with this gene combination, knowing their story doesn't really mean much. I have a friend with CF who is almost 50. He has the same gene combination as his brother who passed away at age 12. CF is very complicated, and most all of the research has concluded that mutation combinations are not a complete predictor of symptoms and outcome.
 
M

Mommafirst

Guest
Hi Litsa, I understand the compelling need to know what these two mutations will mean for your child. Unfortunately, even if you can find others with this gene combination, knowing their story doesn't really mean much. I have a friend with CF who is almost 50. He has the same gene combination as his brother who passed away at age 12. CF is very complicated, and most all of the research has concluded that mutation combinations are not a complete predictor of symptoms and outcome.
 
E

edan

Guest
You have probably seen this one, but I will post the link anyway. It talks about both my daughter's and your little one's mutations after a pretty large research study. Hope this helps...

http://erj.ersjournals.com/content/25/3/468.full

Also, I do know of a 9 yo with your boy's mutations. She has not been hospitalized or had any significant lung issues. I think she was diagnosed due to weight issues around age 6. She just started doing nebulized meds recently (which I don't actually agree with as it is not proactive enough for me).

My daughter's mutation is considered "mild-er" as well. She is pancreatic sufficient. However, I can tell you she has a whopper of a viral chest cold right now and if it weren't for treatments, (especially HTS), we would be at risk for her ending up in the hospital.
 
E

edan

Guest
You have probably seen this one, but I will post the link anyway. It talks about both my daughter's and your little one's mutations after a pretty large research study. Hope this helps...

http://erj.ersjournals.com/content/25/3/468.full

Also, I do know of a 9 yo with your boy's mutations. She has not been hospitalized or had any significant lung issues. I think she was diagnosed due to weight issues around age 6. She just started doing nebulized meds recently (which I don't actually agree with as it is not proactive enough for me).

My daughter's mutation is considered "mild-er" as well. She is pancreatic sufficient. However, I can tell you she has a whopper of a viral chest cold right now and if it weren't for treatments, (especially HTS), we would be at risk for her ending up in the hospital.
 
L

litsa

New member
Thank you Mommafirst, I really appreciate your answer, and I assure you I have heard this before, and most probably from many members of this site. I realize that each child or adult with any combination, mild or not, is a unique case and I believe it is due to culture, environment, life style and care. I wish you and your family are well and protected and most of all as healthy as possible.
Thank you Edan for your answer as well, tha link you send me, I have never seen before and thanks for that as well. I assume your daughter is not on enzymes, hope you are coping well and stay healthy. I would really like to hear your disagreement on that 9yo, so please do elaborate.
I am trying to hear all points of view, since in my country things are really inadequate as far as CF is concerned. fist time i was shown Pt at the CF clinic, it was done so quickly and confusing that I lost the plot!! Yesterday, we went there again for our check-up (Dimi is doing great, thank God) I was shown PT again...The woman told me that percussions are not applied anymore, only light pressure on chest. And i am so confused right now, because I cant find a qualified and trained on CF Pt doctor in my town, I cant find any video showing just the basics of how to do PT on CF patients and its really frustrating. Because I am told from everyone how important PT is and I try to do it on Dimi but I feel I am doing it wrong.
I have never faced CF with defeat and I wont now. SO, this is why I listen carefully to all of you and try to absorb as much knowledge and experience as possible for my boy's sake.
Thank you again, and if anyone know where I can purchase the cups for Pt I would appreciate it. Keep well
 
L

litsa

New member
Thank you Mommafirst, I really appreciate your answer, and I assure you I have heard this before, and most probably from many members of this site. I realize that each child or adult with any combination, mild or not, is a unique case and I believe it is due to culture, environment, life style and care. I wish you and your family are well and protected and most of all as healthy as possible.
Thank you Edan for your answer as well, tha link you send me, I have never seen before and thanks for that as well. I assume your daughter is not on enzymes, hope you are coping well and stay healthy. I would really like to hear your disagreement on that 9yo, so please do elaborate.
I am trying to hear all points of view, since in my country things are really inadequate as far as CF is concerned. fist time i was shown Pt at the CF clinic, it was done so quickly and confusing that I lost the plot!! Yesterday, we went there again for our check-up (Dimi is doing great, thank God) I was shown PT again...The woman told me that percussions are not applied anymore, only light pressure on chest. And i am so confused right now, because I cant find a qualified and trained on CF Pt doctor in my town, I cant find any video showing just the basics of how to do PT on CF patients and its really frustrating. Because I am told from everyone how important PT is and I try to do it on Dimi but I feel I am doing it wrong.
I have never faced CF with defeat and I wont now. SO, this is why I listen carefully to all of you and try to absorb as much knowledge and experience as possible for my boy's sake.
Thank you again, and if anyone know where I can purchase the cups for Pt I would appreciate it. Keep well
 
M

Mommafirst

Guest
I remember being concerned about doing CPT correctly. If you google it or look at youtube, you can find some examples. here's one: http://www.youtube.com/watch?v=65hOg1I2uyM&feature=related As they get older, the percussions get a little more vigorous, but overall, I'm sure you are doing right.
 
M

Mommafirst

Guest
I remember being concerned about doing CPT correctly. If you google it or look at youtube, you can find some examples. here's one: http://www.youtube.com/watch?v=65hOg1I2uyM&feature=related As they get older, the percussions get a little more vigorous, but overall, I'm sure you are doing right.
 
L

litsa

New member
Thank you Heather, its really comforting hearing mums sharing worries. I'm meeting a friend of mine who's a pt therapist next week and really eager to help, so hopefully I will be shown how to do it properly!! Hope you have a great weekend and thanks again for the thoughts and information. Keep well.
 
L

litsa

New member
Thank you Heather, its really comforting hearing mums sharing worries. I'm meeting a friend of mine who's a pt therapist next week and really eager to help, so hopefully I will be shown how to do it properly!! Hope you have a great weekend and thanks again for the thoughts and information. Keep well.
 
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