May is PKU Awareness Month: Spreading Rare Disease Awareness

The month of May is recognized as PKU Awareness Month, a time of year set aside to focus on spreading awareness about phenylketonuria (PKU) among the general public and in the medical community. The National PKU Alliance (NPKUA) had been hard at work raising awareness with its PKU Awareness Month Challenge. Keep reading to learn how you can still get involved before the month winds down.

About Phenylketonuria (PKU)

Phenylketonuria (PKU) is a type of metabolic disorder affecting the enzyme phenylalanine, which builds up in the body and can cause serious problems. Normally, phenylalanine is broken down, but a mutation affecting the PAH gene prevents this from happening in patients with the disorder. Prompt treatment is essential to avoid major complications. Symptoms of PKU include small head size, low birth weight, an unusual musty odor, pale skin, behavioral problems, intellectual disability, heart issues, seizures, and mental disorders. All of these symptoms can be prevented with proper and timely treatment; the condition is routinely screened for in newborns for this reason. The primary management strategy is a highly controlled diet that is low in phenylalanine. Supplements may also be considered. Most patients eventually go off the diet when they reach adulthood. Some older patients may still have trouble managing the condition later in life. To learn more about PKU, click here.

Take The Challenge

The main focus of the PKU Awareness Month Challenge is encouraging patients to tell their stories on social media using the hashtag #MyPKUStoryMatters. A big challenge for the community is the cost of special medical foods, which are critical to prevent the severe symptoms of this disease to emerge, particularly early in life.

In addition to sharing your own story if you are a patient, the NPKUA also encourages participants to find other stories using the hashtag to share as much as they can. Sharing is a critical component of increasing awareness. People that are the most active will earn points and have the chance to win a PKU Awareness Month t-shirt. 

Donations are also encouraged and can help participants earn more points. In addition, donations up to $25,000 will be matched, doubling the impact of your giving. Click here to get started.

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