Mutation queston

[Juliet]

I also disagree with that nurse about the sweat test. I have CF (Ambry genetic testing confirmed I've got 2 mutations & a third 'novel variant') but my sweat test was 'normal'. I wasn't diagnosed until a few months ago at 43, though the symptoms (somewhat milder) have been there all my life.

 

[Juliet]

I also disagree with that nurse about the sweat test. I have CF (Ambry genetic testing confirmed I've got 2 mutations & a third 'novel variant') but my sweat test was 'normal'. I wasn't diagnosed until a few months ago at 43, though the symptoms (somewhat milder) have been there all my life.

 

[Juliet]

I also disagree with that nurse about the sweat test. I have CF (Ambry genetic testing confirmed I've got 2 mutations & a third 'novel variant') but my sweat test was 'normal'. I wasn't diagnosed until a few months ago at 43, though the symptoms (somewhat milder) have been there all my life.

 

[Juliet]

I also disagree with that nurse about the sweat test. I have CF (Ambry genetic testing confirmed I've got 2 mutations & a third 'novel variant') but my sweat test was 'normal'. I wasn't diagnosed until a few months ago at 43, though the symptoms (somewhat milder) have been there all my life.

 

[Juliet]

I also disagree with that nurse about the sweat test. I have CF (Ambry genetic testing confirmed I've got 2 mutations & a third 'novel variant') but my sweat test was 'normal'. I wasn't diagnosed until a few months ago at 43, though the symptoms (somewhat milder) have been there all my life.

 

[holmfamily1992]

The weird thing is that I was diagnosed with asthma at the same age as my son now. I know that I need to talk to my doc and have him order the testing.

My son has the R117H with 12-5T and 10-7T variant. At first they were calling him a carrier until they tested us. Apparently I have the actual mutation and my husband carries all the variants. That is the only one they found so far. His symptoms were mild at first. Bronchitis twice a year and poor wieght gain. As he got older the bronchitis became more frequent and then the asthma presented itself last May. About one year ago. He is almost 10 and only weights 55 pounds, he gained 6 oz in a year. We are right now increasing his diet because all though his enzyme test was low but still within the normal range he still needs more meat on his bones.

Those are about it right now. Hopefully thats all we see.

Tina

 

[holmfamily1992]

The weird thing is that I was diagnosed with asthma at the same age as my son now. I know that I need to talk to my doc and have him order the testing.

My son has the R117H with 12-5T and 10-7T variant. At first they were calling him a carrier until they tested us. Apparently I have the actual mutation and my husband carries all the variants. That is the only one they found so far. His symptoms were mild at first. Bronchitis twice a year and poor wieght gain. As he got older the bronchitis became more frequent and then the asthma presented itself last May. About one year ago. He is almost 10 and only weights 55 pounds, he gained 6 oz in a year. We are right now increasing his diet because all though his enzyme test was low but still within the normal range he still needs more meat on his bones.

Those are about it right now. Hopefully thats all we see.

Tina

 

[holmfamily1992]

The weird thing is that I was diagnosed with asthma at the same age as my son now. I know that I need to talk to my doc and have him order the testing.

My son has the R117H with 12-5T and 10-7T variant. At first they were calling him a carrier until they tested us. Apparently I have the actual mutation and my husband carries all the variants. That is the only one they found so far. His symptoms were mild at first. Bronchitis twice a year and poor wieght gain. As he got older the bronchitis became more frequent and then the asthma presented itself last May. About one year ago. He is almost 10 and only weights 55 pounds, he gained 6 oz in a year. We are right now increasing his diet because all though his enzyme test was low but still within the normal range he still needs more meat on his bones.

Those are about it right now. Hopefully thats all we see.

Tina

 

[holmfamily1992]

The weird thing is that I was diagnosed with asthma at the same age as my son now. I know that I need to talk to my doc and have him order the testing.

My son has the R117H with 12-5T and 10-7T variant. At first they were calling him a carrier until they tested us. Apparently I have the actual mutation and my husband carries all the variants. That is the only one they found so far. His symptoms were mild at first. Bronchitis twice a year and poor wieght gain. As he got older the bronchitis became more frequent and then the asthma presented itself last May. About one year ago. He is almost 10 and only weights 55 pounds, he gained 6 oz in a year. We are right now increasing his diet because all though his enzyme test was low but still within the normal range he still needs more meat on his bones.

Those are about it right now. Hopefully thats all we see.

Tina

 

[holmfamily1992]

The weird thing is that I was diagnosed with asthma at the same age as my son now. I know that I need to talk to my doc and have him order the testing.
<br />
<br />My son has the R117H with 12-5T and 10-7T variant. At first they were calling him a carrier until they tested us. Apparently I have the actual mutation and my husband carries all the variants. That is the only one they found so far. His symptoms were mild at first. Bronchitis twice a year and poor wieght gain. As he got older the bronchitis became more frequent and then the asthma presented itself last May. About one year ago. He is almost 10 and only weights 55 pounds, he gained 6 oz in a year. We are right now increasing his diet because all though his enzyme test was low but still within the normal range he still needs more meat on his bones.
<br />
<br />Those are about it right now. Hopefully thats all we see.
<br />
<br />Tina