Receiving a JdVS diagnosis can be overwhelming for families. This guide is intended to help streamline the process of treatment as families encounter various specialists and doctors along their journey.
*Disclaimer: We are not doctors, we are parents of individuals diagnosed with JdVS. The information provided on this website is to inform and help families cope with the unexpected change in their life due to a JdVS diagnosis. The information contained on this site is not intended to replace information you have received from doctors or other health professionals.
System
Recommended Initial Evaluations
and Ongoing Treatment
Genetic
Initial:
- Whole Exome Sequencing
- Or 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
