Medical Advisory Board

Hope is on the horizon for JdVS families.

We hope you find these resources useful and continue to check back as we add to this evolving library.

Our Mission

Raising Hope, Together.

Mission of our Advisory Board

The JdVS Foundation is committed to spreading awareness and educating communities about Jansen de Vries Syndrome (JdVS). Crucial to this part of our mission is being actively involved and informed about research related to JdVS. We are thrilled to be connected to a variety of committed medical professionals, researchers and educators who have taken an interest in JdVS.

The purpose of the JdVS Foundation Medical Advisory Board is to assist us in interpreting all current JdVS research and to answer specific, medical and scientific questions. The other primary objective will be to review future research proposals. The JdVS Foundation is committed to supporting research into the PPM1D gene through the awarding of research grants from charitable funds raised. We hope to be able to support many research projects in the future.

The Medical Advisory Board consists of individuals with a wide variety of experience and expertise who were chosen very thoughtfully by our Board of Directors. As we develop relationships with additional medical and scientific professionals and rare disease stakeholders, we expect to add more members to our team.

System

Recommended Initial Evaluations and Ongoing Treatment

Genetic

  • Initial
    • Whole Exome Sequencing
    • PPM1D specific genetic testing
  • Ongoing
    • Genetic Counseling

Neurological

  • Initial
    • A consult with neurologist recommended
      • May recommend an MRI and/or EEG at baseline
    • Physical Therapy evaluation
    • Occupational Therapy evaluation
  • Ongoing
    • Physical Therapy
    • Occupational Therapy
    • Orthotics or other movement aids as needed

Gastrointestinal

  • Initial
    • Feeding consult to evaluate suck/swallow reflex
  • Ongoing
    • Monitoring of GI symptom presentation such as constipation and cyclic vomiting
    • Contact Cyclic Vomiting Syndrome Associasion for more information and resources

Psychological

  • Initial
    • Developmental Evaluation and Neuropsychological testing
  • Ongoing
    • Development of specialized learning plans (IEPs) and academic supports as needed
    • Treatment as needed for behavioral concerns

Speech and Language

  • Initial
    • Speech and Language evaluation
  • Ongoing
    • Speech and Language therapy as needed
    • Augmentative and alternative communication devices as needed

Ophthalmological

  • Initial
    • Baseline eye exam
  • Ongoing
    • Treatment and possible therapy as needed