How is care for children with the Marshall-Smith Syndrome organized?

You will be dealing with various health care providers. The paediatrician is usually your first point of contact. He or she arranges the care with other doctors.
As an adult with MSS, your first point of contact is a doctor for people with an intellectual disability. This doctor will arrange almost all of the care you will be needing with various other specialists. You will also be dealing with various other medical specialists, for example:

• Neurologists (for the brains and the nervous system)
• Doctors for ears, nose and throat (ENT specialists)
• Cardiologists (for the heart)
• Anaesthetists (for anaesthesia during examinations and possible operations)
• Radiologists (to make images of internal organs)
• Orthopaedists (for bones, joints and muscles)
• Specialists for internal medicine (for organs in the abdomen)
• Specialized dentists (for oral care and specific teeth problems for people with an intellectual disability)
• Doctors for clinical genetics (to determine the congenital condition).

You may also be dealing with paramedical health care providers like:

• (pre) Speech therapists (for support with communication and feeding)
• Dieticians (for nutritional advice)
• Podiatrists (for foot care)
• Orthoptists (for eye care)
• Exercise therapists, occupational therapists and physiotherapists (for mobility aids)
• Psychologists and remedial educationalists (for support in upbringing, behavioural problems and learning).

Expertise centre and treatment centre

An expertise centre is a hospital where the healthcare providers have a lot of knowledge about a (rare) disease. The various care providers involved in the examinations and treatments, work together in a team.
You don’t always have to go to the expertise centre for all treatments and advice. You could just go once a year for check-ups. The care providers in the expertise centre can pass on their advice to your own healthcare provide in a treatment centre near you. The rest of the healthcare needed, can be provided by the care providers in your area.

Patient organization

A patient organization can play an important role in the lives of people with a disease and their near ones. The Marshall-Smith Syndrome Foundation does this by raising awareness about the syndrome. They provide tools for doctors and other healthcare providers to enable them to give better care to people with MSS. One of these tools is de standard of care for MSS. You can find this document on marshallsmith.org Active parents work together with other volunteers on an international level. Because there are so few people with MSS, international cooperation is important.
The foundation stimulates contact between patients and their near ones by organizing family days. You can read more about the family days and other activities organized by the foundation on the website marshallsmith.org and on the Facebook page.