Everybody is unique but some of us are just a little more unique than others. On Rare Disease Day we want to share our admiration and appreciation for the families and healthcare professionals standing by kids with rare diseases so they can grow and thrive. A recent study carried out by patient organization EURORDIS-Rare Diseases Europe reveals the daily juggling act parents and carers struggle with as they organize and coordinate both health and social care services1.
A rare disease is any disorder that affects only a small proportion of the population. Specifically, in Europe, a disease or disorder qualifies as rare if it affects fewer than 1 out of 2000 people. In the USA a rare disease affects less than 200,000 people2. Globally, approximately 300 million people are living with a rare disease3, including a number of rare metabolic disorders. Up to 50 rare metabolic disorders can be managed through a strict, adapted diet that is low in protein.
Medical nutrition is often prescribed as part of such diets because people cannot meet their nutritional needs through normal food alone. By developing high-quality medical nutrition products and innovative services for people who have metabolic diseases such as phenylketonuria and tyrosinemia we seek ways to improve nutritional care and simplify the lives of patients and their families the best way we know how. These are 5 of our ways to contribute to the care for people with rare metabolic disorders:
1. Championing the importance of newborn screening
It is key that people with a rare metabolic disorder are diagnosed as soon as possible. If their diet is adapted appropriately, the adverse outcomes that can arise from their condition can still be avoided. In many countries, newborns are screened for these disorders with a heel prick blood test, making early diagnosis of a disease possible. In countries where newborn screening does not exist yet, we work with stakeholders in the healthcare ecosystem to implement it.
2. Supporting the development and distribution of tools for diagnosis and patient management
The Vademecum Metabolicum was the first in its kind when it was first written in 1954. The Vademecum is a handbook for healthcare professionals that provides a systematic and practical approach to diagnosing and managing a patient with a metabolic disease, with revisions and updates as clinical guidelines change. The Temple Tool was developed by healthcare professionals in German language, it was then translated into English and localized into several languages and regional content around the world. It is an educational series of books and videos for parents of a newly diagnosed child to learn about metabolic disorders and their dietary management.
3. Bring the fun back in cooking
People with metabolic disorders need to adhere to a strict low-protein diet and may need to rely on our medical nutrition products for the entirety of their life. We believe being able to enjoy food together with loved ones is crucial to staying on diet, hence we look for ways to make that possible. With our apps, online recipe platforms and calculators we aim to inspire healthcare professionals, parents and youngsters alike to prepare adapted and delicious foods that can be enjoyed together.
4. Connecting patients, parents and carers
We said it, everybody is unique. But nobody wants to feel alone. We believe we can use our impact and scale to connect parents, patients and carers and facilitate connections and exchanges between them. We do this via our live events around the world where we spend time together, have fun and learn from each other and specialist chefs and healthcare professionals.
5. Contributing to specialist education for healthcare professionals
Throughout the year we host, facilitate and attend various educational events for healthcare professionals aimed at advancing the standard of care in the area of rare metabolic disorders. Only through collaboration will we truly achieve success to further improve nutritional care.
At Danone, we care for rare through a wide range of medical nutrition products and services to help people with rare metabolic diseases live their lives to the fullest.
[1] Rare Barometer. Juggling care and daily life: the balancing act of the rare disease community. May 2017
[2] https://www.rarediseaseday.org/article/what-is-a-rare-disease
[3] https://www.rarediseaseday.org/article/what-is-a-rare-disease