Two weeks ago, Rachel and my mother were feeding the babies when the phone rang. They let it go to the machine. The message began, "Mr. and Mrs. Klug, this is Dr. Black, Micah's pediatrician." She sounded fine, but then things got worse. "Your son's newborn screening test results came back, and Micah has tested positive for a serious blood disorder. He may be in danger, and we need to see him immediately..." The message continued, but Rachel didn't hear the rest. She was too busy frantically scrambling to get to the phone.
After speaking with the pediatrician, she learned Micah had tested positive for an exceedingly rare genetic blood disorder named Congenital Adrenal Hyperplasia, or CAH. CAH, in its most severe form, prevents the body from absorbing salts and enzymes. That dehydrates the newborn, puts the body into shock, and causes death. While the enzyme absorption can be treated by medications, there are several other life altering side effects of CAH that can not be treated, such as premature puberty, organ disorders and infertility. The more Rachel researched this disease, the more panicked we became.
Rachel called me home from work and we gathered Micah into the car seat, destined for testing at Nemours Childrens Hospital. We arrived there and were shuttled to the ninth floor for blood draws. Poor Micah, just healed from all the holes poked in his skin in the NICU, had to have enough blood drawn for three tests. On the wall of the room were pictures of other kids who had been there for testing, including one beautiful picture of our friend Trisha and her daughter Ava. Although that made us smile, Rachel and I both welled with tears as Micah's vein was sucked dry.
Of the three tests, two results were available the same day. We learned that Micah's blood sodium and potassium levels were within the normal range, telling us that he was in no immediate risk of shock. The third test was a retest of the CAH screening. Those results were not available for over a week.
Later that night, a specialist from the lab at Nemours called us. She had been contacted by Dr. Black to explain CAH further. The specialist, Liz, explained to us that Micah may have had a false positive result. She thought this because of Micah's normal tests earlier that day, and because Micah was tested as a premie. Apparently there is a much higher rate of false results with premies, who may not have developed all the necessary components of their blood at the time of the screening tests. Despite her anticipation of a clean slate, she told us to wait for the final result before ruling out CAH.
The next week and a half was spent waiting with nervous anticipation for the final test result. Every time the phone rang, Rachel sprinted for the phone as if she were running a race against Usain Bolt. The waiting wore on both of us, as did keeping the test results from our family and friends. But we prayed Liz was right and the test was wrong, and tried hard not to get our hopes up too much. If Micah had CAH, we would deal with it appropriately, and still make sure he and his sister had a great life. Finally, nine days after the blood draw, we got the final confirmation - Micah is negative for CAH. That night, Rachel and I slept well for the first time since the initial call. It may have been the relief from the final results, but then again it may have been the glasses of wine we had to celebrate the fact that the only CAH in Micah's life was the last three letters of his name.
FYI - This is the first in what I hope will be a flurry of updates this weekend, as I plan on knocking out several things I've planned on writing about for some time.