Treatment must be taken FOR LIFE and requires EDUCATING you and your family, as well as your child, and regular MEDICAL FOLLOW-UP to achieve the best possible result. In the specific case of phenylketonuria, the diet is often relaxed somewhat after age 10.
This can only be done against a background of mutual commitment and trust between you (the parents) and the specialised multidisciplinary team responsible for your child’s diet and follow up. This team will provide all necessary explanations on the disease.
Regular consultations and blood and/or urine tests are necessary to determine whether the diet prescribed for your child is properly understood and balanced.
The DOCTOR will keep tabs on the development of your child, biochemical parameters and the long-term consequences of the disease. He or she will oversee the management of your child.
The DIETITIAN will work together with your doctor to educate you about the diet and will regularly help you to choose (in quantitative and qualitative terms) foods that are right for your child’s age. He or she will adjust the diet based on the biochemical results and clinical condition of your child.
The BIOCHEMIST will regularly carry out plasma and/or urine tests and forward the results to the care team.
The PSYCHOLOGIST, PRIMARY SCHOOL TEACHER AND SOCIAL WORKER will help you to cope with the difficulties of day-to-day life in a broader way.
The GENETICIST can help you to understand how the disease is transmitted and offer genetic counselling (for later pregnancies) with the possibility of prenatal diagnosis for certain diseases.
Medical, nutritional and biochemical follow-up is essential and tailored to each disease and the monitoring procedures of each healthcare centre.
These disorders often entail constraints that require different types of support:
- Family constraints: you will need to organise; you will receive advice at each stage according to the personal circumstances and age of your child:
- infants: child care, diet issues, diseases,
- little children: reactions to the diet, starting school,
- children: family, siblings’ role, various parties, school, canteen, classes in the field, holidays, sport, etc.
- Psychological constraints: any frustrations arising from treatment, difficulties for you and people around you (family, school and etc.), guilt (due to the inheritability of these diseases) need to be dealt with. You can see a psychologist, who will see you and your child regularly or as needed.
- The psychologist is not there to judge or test you, but to help you and provide reassurance whenever you have doubts or questions.
- A psychomotor specialist and, if necessary, a neurologist will follow the motor development of your child.
- A school teacher may carry out regular assessments of your child’s academic performance and provide guidance in the event of shortcomings.
- Social constraints: these disorders are reimbursed at 100% by Social Security, but a hospital-based social worker can answer your questions in the event of specific problems. Regular communication between the medical team and you will provide them with a better picture of your child and his or her environment. It will also help them to provide guidance and support in managing your child’s disease in his or her own environment, while helping you in day-to-day activities.