Once a diagnosis is established, Emma CPM provides disease-specific follow-up care based on the latest insights. Patients are seen in various outpatient clinics, including several expert centers for rare diseases recognized by the Ministry of Health, Welfare, and Sport (VWS).
Amsterdam UMC is recognized as a center of expertise for rare syndromic forms of intellectual disabilities, metabolic diseases, hereditary eye diseases, genetic obesity, and rare pediatric kidneys and urinary tract disorders, among others. For certain specific syndromes, we offer dedicated multidisciplinary consultations.
Children and adults with these conditions are welcome here from both within and outside the country; if travel is difficult due to distance or circumstances, consultations can also be held via video call. A special outpatient clinic for children and adults with severe and multiple disabilities (ZEVMB) is located at the Stichting Omega facility.
In collaboration with local healthcare providers, we offer a "shared care" approach. This means that we carefully determine which examinations or treatments are best conducted by the local care team in the patient’s own region and which are best provided by our center. This ensures that care is delivered in the right place.
During consultations, a multidisciplinary team is available, tailored to each patient's need. Specialists relevant to a specific complaint join the consultation. Care is provided according to care pathways, guidelines, and personalized outcome measures, allowing us to assess the effect of treatment based on what matters most to the patient. In addition to specialized healthcare providers, various researchers are involved in evaluating and designing the most suitable therapy for each patient.
Every patient is unique, and our team of experts learns something new from each individual case. Together, we continuously strive to improve care for rare diseases.
For these diseases, specialized outpatient clinics have been established within our centers of expertise (with more to follow):
The Emma CPM is a center of expertise at the Amsterdam UMC focusing on patients and families with a rare genetic disorder.
A collaboration between the Emma Children's Hospital, the Department of Human Genetics, the Laboratory of Genetic Metabolic Diseases, and various departments and laboratories.