FTT in CF sibling

Ratatosk · Oct 13, 2009

Isn't there someone here who actually has 3 mutations...? Might be a steve question..

Would be interesting to see what his orginal test results indicated, maybe there was an error. We had some confusion when DS was born and with his testing -- he had at least two blood tests that came back inconclusive because a large enough sample wasn't provided and his sweat test was 32. They wanted to take another blood sample but the NICU nurse suggested no because they'd been taking so much blood for culture tests etc. that his hemoglobin was way down and they were going to have to transfuse him if this continued. Anyhoo, we then got notification that before he'd been transferred from the local hospital a doctor there suspected cf and had actually ordered a blood test, which came back as CF.

Ratatosk · Oct 13, 2009

Isn't there someone here who actually has 3 mutations...? Might be a steve question..

Would be interesting to see what his orginal test results indicated, maybe there was an error. We had some confusion when DS was born and with his testing -- he had at least two blood tests that came back inconclusive because a large enough sample wasn't provided and his sweat test was 32. They wanted to take another blood sample but the NICU nurse suggested no because they'd been taking so much blood for culture tests etc. that his hemoglobin was way down and they were going to have to transfuse him if this continued. Anyhoo, we then got notification that before he'd been transferred from the local hospital a doctor there suspected cf and had actually ordered a blood test, which came back as CF.

Ratatosk · Oct 13, 2009

Isn't there someone here who actually has 3 mutations...? Might be a steve question..

Would be interesting to see what his orginal test results indicated, maybe there was an error. We had some confusion when DS was born and with his testing -- he had at least two blood tests that came back inconclusive because a large enough sample wasn't provided and his sweat test was 32. They wanted to take another blood sample but the NICU nurse suggested no because they'd been taking so much blood for culture tests etc. that his hemoglobin was way down and they were going to have to transfuse him if this continued. Anyhoo, we then got notification that before he'd been transferred from the local hospital a doctor there suspected cf and had actually ordered a blood test, which came back as CF.

Ratatosk · Oct 13, 2009

Isn't there someone here who actually has 3 mutations...? Might be a steve question..

Would be interesting to see what his orginal test results indicated, maybe there was an error. We had some confusion when DS was born and with his testing -- he had at least two blood tests that came back inconclusive because a large enough sample wasn't provided and his sweat test was 32. They wanted to take another blood sample but the NICU nurse suggested no because they'd been taking so much blood for culture tests etc. that his hemoglobin was way down and they were going to have to transfuse him if this continued. Anyhoo, we then got notification that before he'd been transferred from the local hospital a doctor there suspected cf and had actually ordered a blood test, which came back as CF.

Ratatosk · Oct 13, 2009

Isn't there someone here who actually has 3 mutations...? Might be a steve question..
 
 Would be interesting to see what his orginal test results indicated, maybe there was an error. We had some confusion when DS was born and with his testing -- he had at least two blood tests that came back inconclusive because a large enough sample wasn't provided and his sweat test was 32. They wanted to take another blood sample but the NICU nurse suggested no because they'd been taking so much blood for culture tests etc. that his hemoglobin was way down and they were going to have to transfuse him if this continued. Anyhoo, we then got notification that before he'd been transferred from the local hospital a doctor there suspected cf and had actually ordered a blood test, which came back as CF.

sdelorenzo · Oct 14, 2009

A sweat test would be simple. You could get an answer soon. Have you noticed any cf symptoms like salty skin, oily bowel movement or any lung issues? It wouldn't hurt to re-do his genetic testing. Perhaps there is a small chance the test wasn't done correctly. When my son was born in January, I thought I had made it clear to the doctors about what exactly needed to be done in order to get genetic testing done. But a nurse called from the nursery and she was getting the blood to send off for genetics and had some questions. I asked her to bring the lab slip to me. Whoever filled out the form only checked to look for cf poly-T genes and not double delta 508. So had I not checked my son would have come back as having no cf genes instead of a carrier.
Sharon, mom of Sophia, 8 and Jack, 6 both with cf, Grant, 8 months no cf

sdelorenzo · Oct 14, 2009

A sweat test would be simple. You could get an answer soon. Have you noticed any cf symptoms like salty skin, oily bowel movement or any lung issues? It wouldn't hurt to re-do his genetic testing. Perhaps there is a small chance the test wasn't done correctly. When my son was born in January, I thought I had made it clear to the doctors about what exactly needed to be done in order to get genetic testing done. But a nurse called from the nursery and she was getting the blood to send off for genetics and had some questions. I asked her to bring the lab slip to me. Whoever filled out the form only checked to look for cf poly-T genes and not double delta 508. So had I not checked my son would have come back as having no cf genes instead of a carrier.
Sharon, mom of Sophia, 8 and Jack, 6 both with cf, Grant, 8 months no cf

sdelorenzo · Oct 14, 2009

A sweat test would be simple. You could get an answer soon. Have you noticed any cf symptoms like salty skin, oily bowel movement or any lung issues? It wouldn't hurt to re-do his genetic testing. Perhaps there is a small chance the test wasn't done correctly. When my son was born in January, I thought I had made it clear to the doctors about what exactly needed to be done in order to get genetic testing done. But a nurse called from the nursery and she was getting the blood to send off for genetics and had some questions. I asked her to bring the lab slip to me. Whoever filled out the form only checked to look for cf poly-T genes and not double delta 508. So had I not checked my son would have come back as having no cf genes instead of a carrier.
Sharon, mom of Sophia, 8 and Jack, 6 both with cf, Grant, 8 months no cf

sdelorenzo · Oct 14, 2009

A sweat test would be simple. You could get an answer soon. Have you noticed any cf symptoms like salty skin, oily bowel movement or any lung issues? It wouldn't hurt to re-do his genetic testing. Perhaps there is a small chance the test wasn't done correctly. When my son was born in January, I thought I had made it clear to the doctors about what exactly needed to be done in order to get genetic testing done. But a nurse called from the nursery and she was getting the blood to send off for genetics and had some questions. I asked her to bring the lab slip to me. Whoever filled out the form only checked to look for cf poly-T genes and not double delta 508. So had I not checked my son would have come back as having no cf genes instead of a carrier.
Sharon, mom of Sophia, 8 and Jack, 6 both with cf, Grant, 8 months no cf

sdelorenzo · Oct 14, 2009

A sweat test would be simple. You could get an answer soon. Have you noticed any cf symptoms like salty skin, oily bowel movement or any lung issues? It wouldn't hurt to re-do his genetic testing. Perhaps there is a small chance the test wasn't done correctly. When my son was born in January, I thought I had made it clear to the doctors about what exactly needed to be done in order to get genetic testing done. But a nurse called from the nursery and she was getting the blood to send off for genetics and had some questions. I asked her to bring the lab slip to me. Whoever filled out the form only checked to look for cf poly-T genes and not double delta 508. So had I not checked my son would have come back as having no cf genes instead of a carrier.
 Sharon, mom of Sophia, 8 and Jack, 6 both with cf, Grant, 8 months no cf

izemmom · Oct 14, 2009