Living With Conditions Forever Thankful

I'd like you to meet our healthy, thriving, joyful 7 year old little girl Indie. We are grateful every single day for newborn screening, without which her life and ours would look very different.

After a smooth and easy pregnancy we were over the moon to get to greet our sweet bundle of joy. Labor went as planned and within 24 hours we were headed home to begin our life as a family of 3. Prior to being released from the hospital, I remember them doing what was referred to as the "heel prick test" but I couldn't have told you why they were doing it and what they were even testing for. I remember being told that it was routine and likely wouldn't hear anything about it. And truth is, I didn't hear anything from that first test.

Then at her two week well-child check up our doctor mentioned she would need a second one. I was confused by this, I didn't realize she would have to have her heel pricked again. The thought of hurting my baby and not wanting unnecessary testing made me question if it was really necessary (which makes me cringe now!). Thankfully, my doctor understood the importance and informed me that in Washington State they always do a second heel prick test around 2 weeks after birth to catch more mild cases of very serious invisible diseases. Trusting my doctor, we agreed to do it and that single heel prick saved our girl's life. That was the blood draw that would reveal she had a life threatening TREATABLE metabolic disorder called Maple Syrup Urine Disease. Because of this public health program we were able to get a timely and accurate diagnosis, begin treatment, and prevent irreversible brain damage. We are forever thankful for newborn screening!

By Susan Mays

Find more information about Maple Syrup Urine Disease

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