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Living With PKU

Get Ready to Imagine
A NEW WORLD
With PKU

Living with Phenylketonuria (PKU) can be a journey filled with unique challenges. At PTC Therapeutics, we understand the daily struggles and want to reimagine a future where you can live more freely with PKU.

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PKU(Phenylketonuria)
Phenylketonuria (PKU) is a genetic disorder characterized by the body's inability to break down an amino acid called phenylalanine.

We Understand Your Challenges:
Living With PKU Can Feel Overwhelming

PKU affects many aspects of life, making it easy to settle for what life is instead of what it could be. What if we raise our expectations and imagine what life with PKU would be like with more possibilities?

Mental Health & Emotional Well being

Neurotransmitters are signaling molecules that brain cells use to communicate. Imbalances in neurotransmitter levels can impair brain function. High blood Phe levels can disrupt neurotransmitters like serotonin and dopamine, affecting mood, learning, memory, and motivation.

Daily Challenges
Anxiety, depression, and brain fog are significant challenges that can make living with and managing PKU difficult.
Physical & Emotional Impact
Symptoms can include mood swings, anxiety, hyperactivity, trouble focusing, fatigue, headaches, and sleep disorders. Some may also develop eating disorders.
Cognitive Impact
If treatment is delayed or if PKU is not well-controlled on treatment, severe learning disabilities, lower IQ, epilepsy, and behavioral issues can occur. PKU experts recommend lowering and maintaining blood Phe levels to within a range of 120‑360 μmol/L (2‑6 mg/dL) throughout life.

Social Isolation & Professional Impact

Standing Out
Needing special food at work, school, or social events can feel isolating. Activities like dining out with friends or traveling can be difficult and may be avoided.
Difficulty Working
PKU can impact your ability to work. For some, physical work can be challenging, while others experience "PKU brain fog."

The PKU Diet: A Daily Challenge

Limited Options
The PKU diet is often restrictive, monotonous, and bland. Protein substitutes, necessary for nutritional balance, are often expensive.
Time-Consuming
Incorporating special nutrition into your daily life can be complicated and inconvenient.
Nutritional Challenges
Ensuring complete nutrition while following a PKU diet can be challenging, sometimes leading to indigestion and other digestive issues.
Emotional Impact
Struggling with the diet can bring feelings of guilt, embarrassment, and other negative emotions.
Imaginemore:
Living with PKU can be tough, but remember, today’s challenges don't define your tomorrow.

Imagining a New Future

At PTC Therapeutics, we’re working to help reimagine a future where people with PKU can live more freely. We’re listening to the PKU community, sharing their stories, and learning how to better serve the PKU community.

Meet Emma. Hear her story about living with PKU, her hopes for the future, and how she believes PTC Therapeutics is making a difference for those with PKU.

PTC Reimagines PKU

At PTC Therapeutics, we understand the unique challenges of living with PKU, especially given the lack of significant advancements in treatment over the past six years. PTC Therapeutics is committed to helping reimagine a new future.

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We Want to Hear From You

Sign up to stay connected with PTC Therapeutics and receive the latest updates on advancements and innovations for PKU.

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Share Your PKU Experience!

Take our quick survey and share your experiences and opinions on managing PKU. Your insights can help improve care and support for the PKU community.

Resources for Living With PKU

Navigating life with PKU can be challenging, but no one should do it alone. Here are some organizations and resources that could help you on your journey.

  • National PKU Alliance

    National PKU Alliance

    Find resources for individuals with PKU and their families. Explore their comprehensive guides and support programs designed to assist with the unique challenges of PKU.

  • flok

    flok

    flok supports those living with PKU and their caregivers by providing an app for daily PKU management, educational resources, community connections, and the opportunity to drive research through daily care. Care and Research, Together. That's flok.

  • National Organization for Rare Disorders

    National Organization for Rare Disorders (NORD)

    NORD offers the latest information about PKU research and care, as well as financial assistance for patients and resources to connect with the rare disease community.

  • Global Genes® Allies in Rare Disease

    Global Genes

    Global Genes provides information, resources, and connections to communities affected by rare diseases.

Imaginemore:
It's time to reimagine the future of PKU! Stay informed, get inspired, and embrace the advancements transforming PKU management.

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US-PKU-0216 08/24

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