UZ Leuven

SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs

The suggested care has been discussed on both national and international platforms. We suggested the diagnostic tests, investigations and follow up from pediatric to adult age in CDG patients.
In summary, all patients belonging to the metabolic convention attend the clinics 2-4 times a year, depending on their age. Blood work, focusing on liver function, endocrine function, coagulation, and glycosylation abnormalities, is controlled yearly. In CDG, these parameters might vary yearly and lead to various, well treatable clinical problems. Other regular investigations include yearly Opthalmology and cardiac control, neurology consults, and bone density evaluation, with a high risk for osteoporosis above the pubertal age. An important part of the therapy is developmental support, physical therapy, revalidation and speech therapy. Our two metabolic psychologists focus on both developmental and behavioural evaluations and psychological family support if needed. The social assistant secures the availability of family support and financial safety. We have kinesis at our outpatient clinics that see our patients yearly and suggest physical therapy and technical support possibilities. The metabolic dietician is also an essential part of the care since most patients fail to thrive or have chronic gastrointestinal symptoms in CDG. Many patients require tube feeding and a special diet. Unfortunately, there are only effective therapies in two specific subtypes of CDG (MPI- and PGMI-CDG). These are dietary therapies, which need regular follow-ups and blood controls at the outpatient unit. Together with our nurse practitioner, who is organizing the team around the CDG patient care, the team is all essential inadequate care and therapy.
Next to regular patient care, we see many patients for a second opinion. These patients come for a full evaluation to our centre, and we provide their clinicians with written recommendations for their further care.