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D1152H mutation and DF508

D

dill

New member
I am hoping there are others out there like me! I had genetic testing when pregnant with my daughter at age 35. They found that I had DF508 and D1152H, though I was symptom free at the time. When tested, my lung functioning was normal and my sweat test came out in the borderline range.

This summer (I am now 39) my pancreas became irritated (mild pain, no hospitalization, no change in my lifestyle except I stopped running). My CF doctor gave me the formal diagnosis and put me on Ultrase 12 once per day. I am feeling better and go to see the "big city" specialist in a few weeks. I am on a pretty specific eating plan.

The D1152H is a class four mutation-- everywhere I go I have to explain what I have and why (even to my GP). If anyone has information/suggestions/or has been in a similar situation, I'd appreciate hearing from you. My CF Dr. has only seen one other person like me in his career.
 
D

dill

New member
I am hoping there are others out there like me! I had genetic testing when pregnant with my daughter at age 35. They found that I had DF508 and D1152H, though I was symptom free at the time. When tested, my lung functioning was normal and my sweat test came out in the borderline range.

This summer (I am now 39) my pancreas became irritated (mild pain, no hospitalization, no change in my lifestyle except I stopped running). My CF doctor gave me the formal diagnosis and put me on Ultrase 12 once per day. I am feeling better and go to see the "big city" specialist in a few weeks. I am on a pretty specific eating plan.

The D1152H is a class four mutation-- everywhere I go I have to explain what I have and why (even to my GP). If anyone has information/suggestions/or has been in a similar situation, I'd appreciate hearing from you. My CF Dr. has only seen one other person like me in his career.
 
D

dill

New member
I am hoping there are others out there like me! I had genetic testing when pregnant with my daughter at age 35. They found that I had DF508 and D1152H, though I was symptom free at the time. When tested, my lung functioning was normal and my sweat test came out in the borderline range.

This summer (I am now 39) my pancreas became irritated (mild pain, no hospitalization, no change in my lifestyle except I stopped running). My CF doctor gave me the formal diagnosis and put me on Ultrase 12 once per day. I am feeling better and go to see the "big city" specialist in a few weeks. I am on a pretty specific eating plan.

The D1152H is a class four mutation-- everywhere I go I have to explain what I have and why (even to my GP). If anyone has information/suggestions/or has been in a similar situation, I'd appreciate hearing from you. My CF Dr. has only seen one other person like me in his career.
 
D

dill

New member
I am hoping there are others out there like me! I had genetic testing when pregnant with my daughter at age 35. They found that I had DF508 and D1152H, though I was symptom free at the time. When tested, my lung functioning was normal and my sweat test came out in the borderline range.

This summer (I am now 39) my pancreas became irritated (mild pain, no hospitalization, no change in my lifestyle except I stopped running). My CF doctor gave me the formal diagnosis and put me on Ultrase 12 once per day. I am feeling better and go to see the "big city" specialist in a few weeks. I am on a pretty specific eating plan.

The D1152H is a class four mutation-- everywhere I go I have to explain what I have and why (even to my GP). If anyone has information/suggestions/or has been in a similar situation, I'd appreciate hearing from you. My CF Dr. has only seen one other person like me in his career.
 
D

dill

New member
I am hoping there are others out there like me! I had genetic testing when pregnant with my daughter at age 35. They found that I had DF508 and D1152H, though I was symptom free at the time. When tested, my lung functioning was normal and my sweat test came out in the borderline range.
<br />
<br />This summer (I am now 39) my pancreas became irritated (mild pain, no hospitalization, no change in my lifestyle except I stopped running). My CF doctor gave me the formal diagnosis and put me on Ultrase 12 once per day. I am feeling better and go to see the "big city" specialist in a few weeks. I am on a pretty specific eating plan.
<br />
<br />The D1152H is a class four mutation-- everywhere I go I have to explain what I have and why (even to my GP). If anyone has information/suggestions/or has been in a similar situation, I'd appreciate hearing from you. My CF Dr. has only seen one other person like me in his career.
 
S

Sophiesmum

New member
Hello there.

Probably not much help to you but my 2 year old daughter has the same cf genes as yourself. She had an unrelated surgical problem at birth and if she hadn't of been in the hospital her cf would not have been picked up either as our local hospital didn't have the newborn screening for cf at the time.

She is currently pancreatic sufficient (levels above 500) and very little in the way of chest problems so far.

I just wanted to say you have given us some hope as you are doing so well and just wanted to say thank you for posting this.(I am aware that not all people with the same genes have similar health experiences though).

We are in the UK.

Many thanks Gemma x
 
S

Sophiesmum

New member
Hello there.

Probably not much help to you but my 2 year old daughter has the same cf genes as yourself. She had an unrelated surgical problem at birth and if she hadn't of been in the hospital her cf would not have been picked up either as our local hospital didn't have the newborn screening for cf at the time.

She is currently pancreatic sufficient (levels above 500) and very little in the way of chest problems so far.

I just wanted to say you have given us some hope as you are doing so well and just wanted to say thank you for posting this.(I am aware that not all people with the same genes have similar health experiences though).

We are in the UK.

Many thanks Gemma x
 
S

Sophiesmum

New member
Hello there.

Probably not much help to you but my 2 year old daughter has the same cf genes as yourself. She had an unrelated surgical problem at birth and if she hadn't of been in the hospital her cf would not have been picked up either as our local hospital didn't have the newborn screening for cf at the time.

She is currently pancreatic sufficient (levels above 500) and very little in the way of chest problems so far.

I just wanted to say you have given us some hope as you are doing so well and just wanted to say thank you for posting this.(I am aware that not all people with the same genes have similar health experiences though).

We are in the UK.

Many thanks Gemma x
 
S

Sophiesmum

New member
Hello there.

Probably not much help to you but my 2 year old daughter has the same cf genes as yourself. She had an unrelated surgical problem at birth and if she hadn't of been in the hospital her cf would not have been picked up either as our local hospital didn't have the newborn screening for cf at the time.

She is currently pancreatic sufficient (levels above 500) and very little in the way of chest problems so far.

I just wanted to say you have given us some hope as you are doing so well and just wanted to say thank you for posting this.(I am aware that not all people with the same genes have similar health experiences though).

We are in the UK.

Many thanks Gemma x
 
S

Sophiesmum

New member
Hello there.
<br />
<br />Probably not much help to you but my 2 year old daughter has the same cf genes as yourself. She had an unrelated surgical problem at birth and if she hadn't of been in the hospital her cf would not have been picked up either as our local hospital didn't have the newborn screening for cf at the time.
<br />
<br />She is currently pancreatic sufficient (levels above 500) and very little in the way of chest problems so far.
<br />
<br />I just wanted to say you have given us some hope as you are doing so well and just wanted to say thank you for posting this.(I am aware that not all people with the same genes have similar health experiences though).
<br />
<br />We are in the UK.
<br />
<br />Many thanks Gemma x
 
D

dill

New member
Gemma,

Thanks for being in touch, I often think of what my parents would have experienced hearing that I had two CF mutations at birth. I certainly feel for all you are going through. Once again, I was considered somewhat of an oddity- my CF Doctor said I had the genotype, not the phenotype (though this changed when I was formally diagnosed at 39).

I have been trying to think of a way for us to be in direct contact. I am new to this, so I am not sure of the best way to proceed. If you have any ideas, please let me know.

Dill
 
D

dill

New member
Gemma,

Thanks for being in touch, I often think of what my parents would have experienced hearing that I had two CF mutations at birth. I certainly feel for all you are going through. Once again, I was considered somewhat of an oddity- my CF Doctor said I had the genotype, not the phenotype (though this changed when I was formally diagnosed at 39).

I have been trying to think of a way for us to be in direct contact. I am new to this, so I am not sure of the best way to proceed. If you have any ideas, please let me know.

Dill
 
D

dill

New member
Gemma,

Thanks for being in touch, I often think of what my parents would have experienced hearing that I had two CF mutations at birth. I certainly feel for all you are going through. Once again, I was considered somewhat of an oddity- my CF Doctor said I had the genotype, not the phenotype (though this changed when I was formally diagnosed at 39).

I have been trying to think of a way for us to be in direct contact. I am new to this, so I am not sure of the best way to proceed. If you have any ideas, please let me know.

Dill
 
D

dill

New member
Gemma,

Thanks for being in touch, I often think of what my parents would have experienced hearing that I had two CF mutations at birth. I certainly feel for all you are going through. Once again, I was considered somewhat of an oddity- my CF Doctor said I had the genotype, not the phenotype (though this changed when I was formally diagnosed at 39).

I have been trying to think of a way for us to be in direct contact. I am new to this, so I am not sure of the best way to proceed. If you have any ideas, please let me know.

Dill
 
D

dill

New member
Gemma,
<br />
<br />Thanks for being in touch, I often think of what my parents would have experienced hearing that I had two CF mutations at birth. I certainly feel for all you are going through. Once again, I was considered somewhat of an oddity- my CF Doctor said I had the genotype, not the phenotype (though this changed when I was formally diagnosed at 39).
<br />
<br /> I have been trying to think of a way for us to be in direct contact. I am new to this, so I am not sure of the best way to proceed. If you have any ideas, please let me know.
<br />
<br />Dill
 
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