Rare Disease Day:

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Today, Feb. 28th, is Rare Disease Day! Which means raising awareness to PKU!

This day is important because it gives opportunity for the rest of the world to learn more about PKU. As a mother to a son who has PKU, I feel as if it’s my responsibility to speak out about PKU and share this journey…which is exactly why I started this blog!

What is PKU?

  • PhenylKetonUria (fen-­ul­-ke­-toe-­NU-­re-­uh) is an inborn error of metabolism that causes an amino acid known as phenylalanine (fen-­ul-­AL-­uh­-neen), or “Phe,” to build up in the blood because the phenylalanine hydroxylase (PAH) enzyme is either missing or not working properly.

How rare is PKU?

  • About 1 in 10,000 to 15,000 babies in the United States is born with PKU. Newborns are checked for PKU with a simple blood test, making it possible to diagnose and begin treatment at an early stage. If PKU isn’t treated, high or unstable Phe levels can cause serious physical and mental health problems. Treatment guidelines recommend that treatment begin as early as possible and continue through life. By starting early and managing Phe levels for life, most symptoms can be prevented or treated.

What causes PKU?

  • Every individual receives two copies of a gene, one from each parent. For a person to have PKU, both the mother and the father must pass on the mutated phenylalanine hydroxylase (PAH) gene. Each parent is a “carrier” because he or she carries one copy of the mutated, disease­–causing gene and one copy of the non-mutated gene. People who are carriers of the PKU gene have no known symptoms. To have PKU, a person must get two mutated genes, one from each parent.

Detection of PKU:

  • Since the 1960s, hospitals in the United States have been routinely screening newborns for PKU by taking a blood sample. A doctor will use a needle or lancet (surgical instrument) to take a few drops of blood from your baby’s heel to test for PKU and other genetic disorders. The screening test will be performed when the baby is one to two days old and still in the hospital.

I hope this information helps you understand PKU a little better! As for Ezra, he is now one and is so healthy! This past year has been such a journey for us, but we have grown as a family and taken what life throws at us as best as we can. When Ezra was born it was a shock when we found out about PKU, but everything turned out fine. He’s just on a different diet than everyone else and that’s totally okay!

xoxo, Sky

Information provided by:

http://www.pku.com

http://www.healthline.com/

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