This has been a long happy and sad week at the same time.
Yesterday was their first Dr. appt and we were told that some pre-screening for Noah came back a bit abnormal. I can't get into it but I'm going to actually copy and paste an e-mail Jeff wrote to his best friend.
I wanted to give you an update on the kids.
Natalia is doing great, she is basically back to her birth weight and eats, sleeps, and her bodily functions are all working properly.
Noah, on the other hand, was dealt a big surprise unfortunately. Yesterday was our first pediatrician appointment since we were discharged on Tuesday and even though the pediatrician thought Noah looks great and was progressing well, a blood screening test done at North Shore came back abnormal for hormonal levels that deal with the adrenal gland. We had two separate blood tests done yesterday, and after their results verified the initial data, we were instructed to bring him to the Pediatric Emergency Room late last night. The official diagnosis as of this morning is "Congenital Adrenal Hyperplasia" and could have been life-threatening if not tested for, there is a high mortality rate among boys who get this (1 out of every 5000 boys gets positive reading for some level of C.A.H.)
Boys have no outward appearance of anything wrong, but if untreated can lead to weight loss, dehydration, diarrhea, lots of vomiting, and major heart problems.
Classic CAH reuqires daily medical treatment for life (doc said Noah will probably need it for life over the phone with me), mostly steroids and salt supplements etc. His potassium level was 8 and 8.3 when it should be about 5.5 and his salt level went from 136 to 131, both in the wrong directions when they told us to admit him to the emergency room. From there, they transferred us from LIJ to North Shore's NICU unit where he is now. After drawing two viles of blood at 3 pm and 9:30 pm yesterday, they tried to stick him 6!!! more times for blood unsuccessfully before giving up for the day. They were, however, able to get him IV through his arm to hydrate him before continuing the bloodwork today.
I'm still researching this and will meet with the pediatric endocrinologist to ask questions and go forward with a treatment plan. It is outbound patient services with daily medication and normal follow-ups.
We can't believe our little guy who shows no signs of being sick. He is doing GREAT. If the other blood tests come back how the dr. expects, she says we most likely can bring Noah back home within 24 hours.
What a crazy week this has been, from welcoming our babies to the world, bringing them home, not really sleeping, and then having to deal with this. I can't believe how much love I have for them and how happy and heartbreaking this was for us last night and this morning.
---We are at the NICU right now, they did some more blood work this morning and the results are not on the good side of the numbers so he will probably not be coming home today or tomorrow. We still have to speak to the endocrinologist, she should be on her way back to the hospital. She is actually one of the top endocrinologist in the country that deals with CAH, so our little guy is in good hands.
We appreciate your previous comments and know that you join us in our happiness, now I'll be a little more selfish and ask that you send some extra prayers our way. Thank you.