Now that I have explained PKU to you and a little bit more about what it is and exactly what doesn’t work in our body. I want to explain how it is detected.
This is probably one of the most important things about PKU, I feel the whole PKU community can agree on.
When a miniature human is born in the United States they are put through many tests to assure the baby is healthy and to make sure there are not any medical interventions that need to be planned. One of those tests is called a Newborn Screening test, NBS. It is also known as the “heel stick test”, “PKU Test”, A lot of the conditions that the NBS tests for can be managed through lifelong care if caught early. Besides PKU, other conditions the NBS screens for are: congenital hypothyroidism, galactosemia, sickle cell disease, maple syrup urine disease (MSUD), tyrosinemia, cystic fibrosis (CF) and many more. The conditions that are tested for can vary by state. *A great resource to learn more about PKU and the other conditions NBS tests for: http://kidshealth.org/en/parents/newborn-screening-tests.html *
The NBS is completed on a filter paper and a few tiny drops of blood, pricked from the newborns heel. The blood fills up little dotted circles and then sent off to the lab for results. In my case my parents were called when I was 9 days old about my diagnosis. In most cases, when parents receive this phone call they have never heard of PKU before and there is usually a scheduled follow up with a special geneticist to meet the Doctor and their team of registered dietitians and nurses. This is where a close bond is formed with the family and the clinic.
As the newborn makes their way through life, following up with clinic is definitely recommended and monthly diet records and filter paper blood draws as well.
I have done plenty of these in my life, and want to include you in my monthly blood draws. I have included a PKU blood draw Facebook live video I did a while back to show you how it goes.
I want to stress the importance of the Newborn Screening. I understand when you’re a new parent, you feel like your baby is being poked and prodded just remember what you know now can save their life. As for these new parents of PKUers, I want you to know you are not alone we have a huge wide supportive community.
Which will bring us into the next topic for next post: Where PKU has taken me, coming later this week.