Hooray!
Oklahoma has just added Congenital Adrenal Hyperplasia to its newborn screening program. This is the way we found out about Pickle's birth defect and how we've been able to greatly improve his quality of life and even prevented a premature death. Because he has a version of the disease where he is not a salt-waster, we may not have known that he suffered from CAH until he became very ill and had an adrenal crises. Being armed with this diagnosis allowed us to treat his birth defect and act proactively whenever he became ill. It was a roller coaster as he was an infant and toddler, but now he is doing great.
The Magic Foundation has a great explanation of CAH and how it effects the body. Untreated, patients with CAH can die, like this young man. According to Save Babies Through Screening, early detection of disorders and conditions detectable through comprehensive newborn screening (CNBS) is vital. Although the newborn screening test detects disorders that cannot be cured, early invention and treatment is beneficial in most cases. I wholeheartedly agree. Pickle could have died without treatment, additionally his quality of life has been greatly improved through treatment early on.
The March of Dimes has a long list of metabolic disorders that all newborns should be screened for, unfortunately not all states offer the screening for all of these disorders. CAH is not screened for in many states. Thank God, it is screened for in Texas, where my precious son was born. There are still 13 states that aren't testing for CAH in their routine newborn screening and that is unacceptable. If you are having a baby and want to know what your state tests for, you can check here. Save Babies Through Screening has a pamphlet here with good information about screening. The screening is relatively inexpensive from what I've been told. I highly recommend that you ask your OB/GYN and pediatrician about newborn screening and what your state routinely offers and then ask for a comprehensive screening. I have talked to parents who lost babies with CAH when they were just a week old because they didn't know. A heel prick before leaving the hospital could have saved their babies' lives.
The Magic Foundation has a great explanation of CAH and how it effects the body. Untreated, patients with CAH can die, like this young man. According to Save Babies Through Screening, early detection of disorders and conditions detectable through comprehensive newborn screening (CNBS) is vital. Although the newborn screening test detects disorders that cannot be cured, early invention and treatment is beneficial in most cases. I wholeheartedly agree. Pickle could have died without treatment, additionally his quality of life has been greatly improved through treatment early on.
The March of Dimes has a long list of metabolic disorders that all newborns should be screened for, unfortunately not all states offer the screening for all of these disorders. CAH is not screened for in many states. Thank God, it is screened for in Texas, where my precious son was born. There are still 13 states that aren't testing for CAH in their routine newborn screening and that is unacceptable. If you are having a baby and want to know what your state tests for, you can check here. Save Babies Through Screening has a pamphlet here with good information about screening. The screening is relatively inexpensive from what I've been told. I highly recommend that you ask your OB/GYN and pediatrician about newborn screening and what your state routinely offers and then ask for a comprehensive screening. I have talked to parents who lost babies with CAH when they were just a week old because they didn't know. A heel prick before leaving the hospital could have saved their babies' lives.
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