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PKU Reece

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About this cause:

When Reece was three days old we received a call we never expected to get. Her newborn screen showed Reece had elevated levels of an amino acid called phenylalanine. This indicated she likely had PKU. After a blood draw this was confirmed.

PKU is a rare inherited disorder that causes an amino acid called phenylalanine to build up in your body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.

Without the enzyme necessary to process phenylalanine, a dangerous buildup can develop when a person with PKU eats foods that are high in protein. This can eventually lead to serious health problems.

For the rest of their lives, people with PKU — babies, children and adults — need to follow a diet that limits phenylalanine, which is found mostly in foods that contain protein.

Babies in the United States and many other countries are screened for PKU soon after birth. Recognizing PKU right away can help prevent major health problems. The odds of being a carrier of PKU are 1 in 50. The odds of two carriers having a child are 1 in 2500. The odds of two carriers having a baby with PKU are 1 in 4. The overall odds of having PKU are 1 in 10,000. But we think Reece is one in a million!

Reece has been such a champ for all of her weekly heel sticks to obtain a blood sample for testing (Daddy does them while Mommy holds her) and doesn't even cry for her venous blood draws. The phlebotomist at the children's hospital said she was way tougher than the high school football player he just had in his chair.

She is an amazing little girl, tough as nails and a social butterfly. We are so proud of her and even though some days will be tough, we know she has the fight of a tiger.

We are supporting the National PKU Alliance. The National PKU Alliance works to improve the lives of families and individuals associated with PKU through research, support, education and advocacy, while ultimately seeking a cure.