iva_mom

Surprisingly, no, there were no clear signs. In retrospect, there was an episode at 18 months but IVA was missed. He was treated for rotavirus. He also self-selected his diet -- his early eating habits were probably a sign that we missed. But that's all hindsight. We didn't really know something was wrong until he just didn't wake up one day. He was 3 and a half years old. I went in to get him out of bed and he was unresponsive.

The most important thing to understand when answering your next question is that Stephen appeared perfectly fine. He was the happiest little boy! He was reaching milestones on time, developing normally, and there were no delays.

Newborn screening allows people to know about these conditions in the first days or weeks of a baby's life. That means intervening with enough time to prevent disability. We didn't have that knowledge or opportunity with Stephen, but we did with Caroline. ALL US STATES SCREEN FOR IVA NOW.

With Caroline, we did know ahead of time that she had IVA and we chose to continue. We knew she was at risk, but we also knew there was treatment that would help her live a healthy life. With a strict diet and medication, she is living a normal life. So we didn't choose to carry a disabled baby, we chose to treat her and carry a healthy baby.

Good question. Stephen is nonverbal but he can vocalize, and just as we learned to communicate with him as an infant we learned to communicate with him despite his disabilities. Stephen's receptive language is better than his expressive language. Meaning he comprehends more than he can express. It has taken us years to fully understand that. Overall he's a pretty content kid, but will let us know when he's not happy or in distress. I think Stephen is easygoing and we have adapted our family life to work with his disability. Being included in our family life and giving Stephen opportunities for general life experiences makes him happy. Stephen loves personal contact!

I can't speak to a person's reasons for opposition for newborn screening. As a parent profoundly affected by a treatable condition that all babies in the US are screened for, I would recommend everyone fully educate themselves on the value of this public health service. For most people the results are normal and life goes on never giving it a second thought. I see the value every day in Stephen and Caroline.

You should chat with your OB and your pediatrician if you meet them before delivery. Ask what your state routinely screens for, when screening will happen in the hospital and how long it might take for results to come back. In the hospital, make sure the test is done -- it's just a little heel prick. Some states will do an additional heel prick at the baby's first check up. And most importantly, make sure you follow up on the results! Don't assume no news is good news. And take any abnormal results seriously.

Good question. Here is a great way to see what your state routinely tests for: http://www.babysfirsttest.org/newborn-screening/states

IVA can be detected during an amnio. I had an amnio when I was pregnant with Caroline because we had a family history. As I said in another answer, we didn't even know to look for it when I was pregnant with Stephen.