Treatment approach for R117h

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SaraBlue

New member
Hi, this is my first post and I wanted to say how much I appreciate this forum, especially hearing the perspectives of parents, partners, and older people wcf. (My son wcf is 2 1/2).
I have seen a fair amount of people w/the r117h-7t mutation and I'm curious what your dr's approach is for treatment. My son was diagnosed while I was pregnant after carrier screening. Currently we only do cpt, and occasionally albuterol if he has a cough. Our clinic's approach is to do cpt and treat any symptoms if/when they arise. He does culture staph, which we are not treating. Which I don't like, but I understand the reasoning.
So, I am wondering if there are other clinics that take a different view on this mutation. I don't want to give him meds he may not need, but I don't want to look back years from now and regret not being more aggressive.
Thanks,
Sara
 
S

SaraBlue

New member
Hi, this is my first post and I wanted to say how much I appreciate this forum, especially hearing the perspectives of parents, partners, and older people wcf. (My son wcf is 2 1/2).
I have seen a fair amount of people w/the r117h-7t mutation and I'm curious what your dr's approach is for treatment. My son was diagnosed while I was pregnant after carrier screening. Currently we only do cpt, and occasionally albuterol if he has a cough. Our clinic's approach is to do cpt and treat any symptoms if/when they arise. He does culture staph, which we are not treating. Which I don't like, but I understand the reasoning.
So, I am wondering if there are other clinics that take a different view on this mutation. I don't want to give him meds he may not need, but I don't want to look back years from now and regret not being more aggressive.
Thanks,
Sara
 
S

SaraBlue

New member
Hi, this is my first post and I wanted to say how much I appreciate this forum, especially hearing the perspectives of parents, partners, and older people wcf. (My son wcf is 2 1/2).
I have seen a fair amount of people w/the r117h-7t mutation and I'm curious what your dr's approach is for treatment. My son was diagnosed while I was pregnant after carrier screening. Currently we only do cpt, and occasionally albuterol if he has a cough. Our clinic's approach is to do cpt and treat any symptoms if/when they arise. He does culture staph, which we are not treating. Which I don't like, but I understand the reasoning.
So, I am wondering if there are other clinics that take a different view on this mutation. I don't want to give him meds he may not need, but I don't want to look back years from now and regret not being more aggressive.
Thanks,
Sara
 
K

kayleesgrandma

New member
Welcome Sara, it's good to have you posting. I'm glad you came here, as this site is so beneficial, and empowering--just as Jeanne, the founder envisioned. I don't have an answer to your question, but I know others will. My kaylee is R117h also, and we only do the vest, and nebs if she is ever congested. So far we have been lucky, with no bd cultures--yet. So welcome, and I look forward to seeing more of you!
 
K

kayleesgrandma

New member
Welcome Sara, it's good to have you posting. I'm glad you came here, as this site is so beneficial, and empowering--just as Jeanne, the founder envisioned. I don't have an answer to your question, but I know others will. My kaylee is R117h also, and we only do the vest, and nebs if she is ever congested. So far we have been lucky, with no bd cultures--yet. So welcome, and I look forward to seeing more of you!
 
K

kayleesgrandma

New member
Welcome Sara, it's good to have you posting. I'm glad you came here, as this site is so beneficial, and empowering--just as Jeanne, the founder envisioned. I don't have an answer to your question, but I know others will. My kaylee is R117h also, and we only do the vest, and nebs if she is ever congested. So far we have been lucky, with no bd cultures--yet. So welcome, and I look forward to seeing more of you!
 
M

mum2kj

New member
I don't know anything about the gene,

But I think the doc should treat the staph. My daughter has grown staph since she was six and it has caused her top right lung to be badly infected. My daughter was on augmentin duo forte (tablet) permanently for it and when it flares up she has iv's.

They say staph isn't as bad as pseudo but it sure has done some damage to my daughters lung.


My best wishes to you and welcome to the forum.
 
M

mum2kj

New member
I don't know anything about the gene,

But I think the doc should treat the staph. My daughter has grown staph since she was six and it has caused her top right lung to be badly infected. My daughter was on augmentin duo forte (tablet) permanently for it and when it flares up she has iv's.

They say staph isn't as bad as pseudo but it sure has done some damage to my daughters lung.


My best wishes to you and welcome to the forum.
 
M

mum2kj

New member
I don't know anything about the gene,

But I think the doc should treat the staph. My daughter has grown staph since she was six and it has caused her top right lung to be badly infected. My daughter was on augmentin duo forte (tablet) permanently for it and when it flares up she has iv's.

They say staph isn't as bad as pseudo but it sure has done some damage to my daughters lung.


My best wishes to you and welcome to the forum.
 
N

NoExcuses

New member
Not many clinics treat by mutation. Even the #1 clinic in the country, Minnesota, does not treat by mutation.

What keeps patients living the longest is preventative treatment - being as agressive as humanly possible prior to symptoms arising.

Not waiting until symptoms do arise.

If I were you, I would have an issue with my physician treating my son when symptoms arise..... This is how lung function is lost.
 
N

NoExcuses

New member
Not many clinics treat by mutation. Even the #1 clinic in the country, Minnesota, does not treat by mutation.

What keeps patients living the longest is preventative treatment - being as agressive as humanly possible prior to symptoms arising.

Not waiting until symptoms do arise.

If I were you, I would have an issue with my physician treating my son when symptoms arise..... This is how lung function is lost.
 
N

NoExcuses

New member
Not many clinics treat by mutation. Even the #1 clinic in the country, Minnesota, does not treat by mutation.

What keeps patients living the longest is preventative treatment - being as agressive as humanly possible prior to symptoms arising.

Not waiting until symptoms do arise.

If I were you, I would have an issue with my physician treating my son when symptoms arise..... This is how lung function is lost.
 
J

janddburke

New member
Not sure about treatment by mutation, but my daugher also has the R117H (not sure about the extention)
from what I read this mutation is only associated with pancreatic sufficiency but no guarantees on pulmonary manifestations.
best course of action is to find a doctor whom you like and respect and follow his advice.
REALLY REALLY follow his advice. if the team says PT twice or three times a day and things are going well, don't stop.
perscribed antibiotics but child doing well, don't stop.
appointments every 3 months, keep them.

keep your head up and give your son a big kiss.
 
J

janddburke

New member
Not sure about treatment by mutation, but my daugher also has the R117H (not sure about the extention)
from what I read this mutation is only associated with pancreatic sufficiency but no guarantees on pulmonary manifestations.
best course of action is to find a doctor whom you like and respect and follow his advice.
REALLY REALLY follow his advice. if the team says PT twice or three times a day and things are going well, don't stop.
perscribed antibiotics but child doing well, don't stop.
appointments every 3 months, keep them.

keep your head up and give your son a big kiss.
 
J

janddburke

New member
Not sure about treatment by mutation, but my daugher also has the R117H (not sure about the extention)
from what I read this mutation is only associated with pancreatic sufficiency but no guarantees on pulmonary manifestations.
best course of action is to find a doctor whom you like and respect and follow his advice.
REALLY REALLY follow his advice. if the team says PT twice or three times a day and things are going well, don't stop.
perscribed antibiotics but child doing well, don't stop.
appointments every 3 months, keep them.

keep your head up and give your son a big kiss.
 
R

Ratatosk

Administrator
Staff member
DS's symptoms have mainly been digestive; however, his CF doctor in the city has indicated that CFers are born with normal lungs, but because it's a progressive disease, the lung will become affected at some point, so it's important to do CPT 2-4 times a day to keep the lungs healthy. Our local CF clinic is more reactive than proactive, recently at one of our walk meetings a mom of a toddler wcf indicated that they only just started doing CPT and that was because her child was hospitalized for pneumonia.
 
R

Ratatosk

Administrator
Staff member
DS's symptoms have mainly been digestive; however, his CF doctor in the city has indicated that CFers are born with normal lungs, but because it's a progressive disease, the lung will become affected at some point, so it's important to do CPT 2-4 times a day to keep the lungs healthy. Our local CF clinic is more reactive than proactive, recently at one of our walk meetings a mom of a toddler wcf indicated that they only just started doing CPT and that was because her child was hospitalized for pneumonia.
 
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