New here!!

[sunshine07]

I am new to his site and have a question regarding my daughter. She is 7 months old and was diagnosed with CF through the newborn screening program. She had 2 sweat tests done in which both came back low borderline. They then decided to do the full genetics test through Ambry and it came back that she has I1051F & DeltaF508. They diagnosed her with CF Variant. We have been told that the I1051F has never been seen before and they don't know if this is a real mutation or a non disease causing variant. She is completely healthy. No problems or symptoms at all. She is not on any meds, but does go to the CF clinic every three months for preventive measures. My question is does anyone know of a situation like ours? We take one day at a time and hope for the best. But of course we realize that only time will tell.

 

[sunshine07]

I am new to his site and have a question regarding my daughter. She is 7 months old and was diagnosed with CF through the newborn screening program. She had 2 sweat tests done in which both came back low borderline. They then decided to do the full genetics test through Ambry and it came back that she has I1051F & DeltaF508. They diagnosed her with CF Variant. We have been told that the I1051F has never been seen before and they don't know if this is a real mutation or a non disease causing variant. She is completely healthy. No problems or symptoms at all. She is not on any meds, but does go to the CF clinic every three months for preventive measures. My question is does anyone know of a situation like ours? We take one day at a time and hope for the best. But of course we realize that only time will tell.

 

[sunshine07]

I am new to his site and have a question regarding my daughter. She is 7 months old and was diagnosed with CF through the newborn screening program. She had 2 sweat tests done in which both came back low borderline. They then decided to do the full genetics test through Ambry and it came back that she has I1051F & DeltaF508. They diagnosed her with CF Variant. We have been told that the I1051F has never been seen before and they don't know if this is a real mutation or a non disease causing variant. She is completely healthy. No problems or symptoms at all. She is not on any meds, but does go to the CF clinic every three months for preventive measures. My question is does anyone know of a situation like ours? We take one day at a time and hope for the best. But of course we realize that only time will tell.

 

[Mommafirst]

Hi Denise and welcome!

Our situation is not exactly what yours, but I can imagine what you are dealing with. My daughter is 15 months old. At 5 months she was diagnosed, she has one relatively common (not quite the DF508, but still well known) mutation, and a very rare one. At the time they weren't really sure if it was a disease causing mutation, because the main case study with the mutation was a 32 year old male with no symptoms except infertility. Since diagnosis, they have decided that it probably is disease causing after a young patient with the mutation was diagnosed due to failure to thrive and pancreatic insufficiency. We don't know what any of this will mean, or where it will go. Overall my dd is doing very well -- but did have an extended bout with an upper respiratory infection and cultures staph in her lungs. So basically, she isn't really symptom free.

Unfortunately, preventative care is everything with this disease. And it is possible for symptoms to develop later on. So even if your daughter never develops symptoms they may always want to watch and even start some preventative measures.

It can be frustrating and overwhelming!!

I'm sure you will find lots of information around here, including from the Ambry Genetics company, which may help you make sense of these mutations.

 

[Mommafirst]

Hi Denise and welcome!

Our situation is not exactly what yours, but I can imagine what you are dealing with. My daughter is 15 months old. At 5 months she was diagnosed, she has one relatively common (not quite the DF508, but still well known) mutation, and a very rare one. At the time they weren't really sure if it was a disease causing mutation, because the main case study with the mutation was a 32 year old male with no symptoms except infertility. Since diagnosis, they have decided that it probably is disease causing after a young patient with the mutation was diagnosed due to failure to thrive and pancreatic insufficiency. We don't know what any of this will mean, or where it will go. Overall my dd is doing very well -- but did have an extended bout with an upper respiratory infection and cultures staph in her lungs. So basically, she isn't really symptom free.

Unfortunately, preventative care is everything with this disease. And it is possible for symptoms to develop later on. So even if your daughter never develops symptoms they may always want to watch and even start some preventative measures.

It can be frustrating and overwhelming!!

I'm sure you will find lots of information around here, including from the Ambry Genetics company, which may help you make sense of these mutations.

 

[Mommafirst]

Hi Denise and welcome!

Our situation is not exactly what yours, but I can imagine what you are dealing with. My daughter is 15 months old. At 5 months she was diagnosed, she has one relatively common (not quite the DF508, but still well known) mutation, and a very rare one. At the time they weren't really sure if it was a disease causing mutation, because the main case study with the mutation was a 32 year old male with no symptoms except infertility. Since diagnosis, they have decided that it probably is disease causing after a young patient with the mutation was diagnosed due to failure to thrive and pancreatic insufficiency. We don't know what any of this will mean, or where it will go. Overall my dd is doing very well -- but did have an extended bout with an upper respiratory infection and cultures staph in her lungs. So basically, she isn't really symptom free.

Unfortunately, preventative care is everything with this disease. And it is possible for symptoms to develop later on. So even if your daughter never develops symptoms they may always want to watch and even start some preventative measures.

It can be frustrating and overwhelming!!

I'm sure you will find lots of information around here, including from the Ambry Genetics company, which may help you make sense of these mutations.