29 February: Rare Disease Day

Once every 4 years, the year has 366 days. That makes February 29 a rare day. A day to raise awareness and to promote equity in social opportunities, healthcare, and access to diagnosis and therapies for individuals living with rare diseases.

Inherited metabolic disorders (IMDs)

Inherited metabolic disorders are part of this group of rare diseases. These disorders are caused by genetic defects that affect the body’s ability to break down certain nutrients in food, like protein or carbohydrates and can be detected shortly after birth where new-born screening is available.

Specialized medical nutrition

Depending on the disorder, often the gold standard management option for people is a lifelong dietary restriction of the nutrient that cannot be broken down by the body. In Phenylketonuria, a disorder of protein metabolism, this means a very restricted low protein diet excluding foods like meat, fish, dairy, grains with foods such as potatoes, rice and pasta allowed only in very small amounts. Nevertheless, you still require some essential components from these foods as a source of energy and to support growth and development. Specialized medical nutrition can provide these components in the form of protein substitutes.

For more than 65 years, Nutricia Metabolics has been supporting generations of people with IMDs to live their best possible lives.

Among us are colleagues who deeply understand the experience of living with a rare disease.

Today they want to share their story. What drives them, what are their challenges and their dreams for the future of PKU.

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