gregdpowell
New member
Hey Everyone, first off this forum is full of strong, inspirational people. Regardless of the results I have changed my view and emotions for parents and patients with CF.
Of course my wife and I are worried right now. Our son is just 13 days old and had his 2 week check up today. Nothing at all has been weird, his skin isn't salty tasting and he doesn't cough etc. I'm sure it's too early for symptoms.
Turns out his blood work done at the hospital showed an elevated level of 71 (65 is the norm) with 1 gene mutation. Of course there are false positives etc. I have been reading about.
I was reading on a blog here and found something that was encouraging to me. Can anyone else comment on this for me. I am sure there are some here that had this same thing and were CF diagnosed. Does this make sense?
- In states that measure (like mine) DNA as well as IRT:
Babies with two CF gene mutations found through newborn screening are very likely to have CF.
Babies with only one gene mutation found on a newborn screening may have CF, <u>but are much more likely to be healthy carriers of CF than to have the disease cystic fibrosis</u>. In most states, fewer than three out of 100 babies who have a positive newborn screen with one gene mutation will actually have CF. These babies with only one gene mutation are carriers of CF.
Babies who only carry one CF gene mutation will sometimes have a high IRT level. However, it is also possible that the baby might still have a second gene mutation which was not looked for in the newborn screening test - and might still have CF. The chance of a baby with one mutation found by newborn screening to have the disease CF depends on how many mutations the screening test looked for and the ethnic background of the people in your state. It is most likely that a baby with one mutation is a healthy carrier of CF. However, more testing, such as a sweat test, will need to be done.
Just praying hard my little dude is ok. Thanks so much for the encouragement!
Of course my wife and I are worried right now. Our son is just 13 days old and had his 2 week check up today. Nothing at all has been weird, his skin isn't salty tasting and he doesn't cough etc. I'm sure it's too early for symptoms.
Turns out his blood work done at the hospital showed an elevated level of 71 (65 is the norm) with 1 gene mutation. Of course there are false positives etc. I have been reading about.
I was reading on a blog here and found something that was encouraging to me. Can anyone else comment on this for me. I am sure there are some here that had this same thing and were CF diagnosed. Does this make sense?
- In states that measure (like mine) DNA as well as IRT:
Babies with two CF gene mutations found through newborn screening are very likely to have CF.
Babies with only one gene mutation found on a newborn screening may have CF, <u>but are much more likely to be healthy carriers of CF than to have the disease cystic fibrosis</u>. In most states, fewer than three out of 100 babies who have a positive newborn screen with one gene mutation will actually have CF. These babies with only one gene mutation are carriers of CF.
Babies who only carry one CF gene mutation will sometimes have a high IRT level. However, it is also possible that the baby might still have a second gene mutation which was not looked for in the newborn screening test - and might still have CF. The chance of a baby with one mutation found by newborn screening to have the disease CF depends on how many mutations the screening test looked for and the ethnic background of the people in your state. It is most likely that a baby with one mutation is a healthy carrier of CF. However, more testing, such as a sweat test, will need to be done.
Just praying hard my little dude is ok. Thanks so much for the encouragement!