Individually rare, collectively common.
February 28 marks Rare Disease Day, a day to raise awareness and shine a light on people worldwide living with a rare disease. Collectively as a group this represents more than 300 million people living with a rare disease worldwide.
Inborn errors of metabolism (IEMs), also known as inherited metabolic disorders (IMDs) are also 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. They often require lifelong management through a severely restricted diet and supplementation with specialized medical nutrition.
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 Tyrosinemia, 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. However, a child still needs some essential components of these foods for growth, development and as a source of energy.
To ensure a child gets these essential components that they cannot get from regular foods, products, designed for people with an IEM, are important in the day-to-day management of a disorder. These products are classified as foods for special medical purposes and must be prescribed by a health care professional. With our range of products designed for people with an IEM, we are there at every milestone providing products, services and educational content for parents, patients, and health care professionals.