TRANSLAD - Translational medicine in development disorders
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TRANSLAD - Translational medicine in development disorders

TRANSLAD

A best-practice project focussing specifically on the development of healthcare, research and education in the area of rare developmental disorder diseases.

The principal axes of FHU-TRANSLAD
  • Treat Treat

    A centre for patient evaluation and multidisciplinary care

  • Innovate Innovate

    A diagnostic centre at the cutting edge of molecular genetic technology.

  • Teach and Train Teach and Train

    A training and genomics information referral centre for hereditary diseases

  • Humanise Humanise

    A think-tank on societal and ethical issues

  • Find Find

    A clinical, molecular, neuro-cognitive and pathophysiological research centre

  • Home
  • Introduction
  • Diseases involved
  • Principal Axes
    • Area 1 : Treat
    • Area 2 : Innovate
    • Area 3 : Teach and Train
    • Area 4 : Humanise
    • Area 5 : Find
  • Follow-up
  • Coordination
  • Teams
    • Presentation
    • Diagnostics and healthcare teams included in FHU
    • Research teams included in FHU
    • Teams partnering with FHU-TRANSLAD
  • Support us
  • Home
  • Home
  • Principal Axes
  • Treat
  • Objectives of these Reference Centre
  • Coordinating patient follow up

Co-ordinating patient follow up

A consultation on coordinating follow-up of children and adults

FHU TRANSLAD proposes to coordinate the follow-up of patients, both children and adults, with rare developmental disorder diseases and/or an intellectual disability so as to avert any complications from these conditions by direct monitoring and to evaluate symptomatic treatments, in consultation with the other medical specialisations.

  • The follow-up paediatric consultation is co-ordinated by paediatrician Dr. Marie Bournez.
  • The follow-up adult consultation is conducted by Dr. Vanessa Leguy-Seguin, specialist in internal medicine.

The child-to-adult transition

The transition and transfer of adolescents and young adults under paediatric care for a rare disease is also a major issue for FHU TRANSLAD. In fact, this is a challenge for patients and their family circle, as well as for the healthcare teams, as the treatment path is often a multidisciplinary, at times complex, one. The life expectancy of children with rare diseases of primarily genetic origin is considerably extended with the aid of medical advances. Even so, the quality of life of many of these children is impaired, and their life prospects beyond childhood or adolescence are compromised

Once they grow out of puberty and adolescence, independence and freedom become the focus. This stage requires well-thought-out, realistic, appropriate life-planning, worthy of merit, and which receives their approval. After discussion, the main concerns shared by all of the adolescents/young adults were identified :

  • Learning to become an adult, and to cope independently with their health condition
  • Preparation for the future, and life-planning around their health condition

Consequently, FHU TRANSLAD decided to make every effort to facilitate this stage, through its TRANSLAD-Age project: The child-to-adult healthcare transition takes place in dedicated day clinics and enables young adults to effectively become key players in their own treatment. To find out more

Resource persons

Reference centre practitioners and patients associations have identified the need for resource persons to help with coaching and supportive care for patients and their families.
Through such contact, patients can :

  • share with persons who have lived through a similar situation and can relate their experience,
  • hold discussions that are less formal than in the medical setting. The circumstances may vary, and may include a diagnostic enquiry, disclosure of a diagnosis or follow-up.

The resource persons have undergone training in patient-focus and supportive care.
This pilot initiative is currently being managed for Elisabeth Cudry (Association VML - a patients association for lysosomal diseases) under a partnership agreement.

Area 1 : Treat

  • Introduction
  • CLAD-Est Reference Centre
  • The DéfI-Bourgogne Reference Centre
    • Introduction
    • Team
  • MAGEC Reference Centre
    • Introduction
  • LLD Referral Centre
    • Roles and tasks
    • The Bourgogne LLD Referral Centre
    • The Franche-Comté LLD Referral Centre
  • ARCs
    • Roles and tasks
    • The Autism Resource Centre of Bourgogne
    • The Autism Resource Centre of Franche-Comté
  • Objectives of these Reference Centre
    • Diagnosing and identifying the genetic cause of rare diseases
    • Co-ordinating patient follow up
    • Recommending consultations with specialist doctors
    • Expanding therapeutic education
    • Providing supportive care to families
    • Setting up genetics counselling
  • Special attention to the quality of healthcare

Other axes

  • Area 1 : Treat
  • Area 2 : Innovate
  • Area 3 : Teach and Train
  • Area 4 : Humanise
  • Area 5 : Find

CHU Dijon - 14 rue Paul Gaffarel - BP 77908 - 21079 Dijon - France
Tél. : 03 80 29 53 13 - Fax : 03 80 29 32 66 - E-mail