Resources

• The Center for Courageous Kids – non-profit, year-round, residential medical camp that serves children living with chronic illnesses and life-threatening conditions. They offer illness-specific summer sessions and family weekend retreats. Over 40,000 children and family members from 45 states and 10 foreign countries have attended. Located in south/central Kentucky. Attending camp is 100% free! Find out more on their website or social media pages (Facebook, Instagram and LinkedIn).

• NORD Rare Disease Database – Excellent summary of KdVS, written by Dr. Bert de Vries in 2022.
• Dr. Koolen’s KdVS Website – Read more about Koolen-de Vries Syndrome, learn about the clinical survey (see GenIDA below) and more.
• GenIDA – Register on the GenIDA website to record medical information about your KdVS family member. Families are requested to enter this information to help further characterize and define Koolen-de Vries Syndrome.
• Unique Rare Chromosomes Organization – Offers information on rare syndromes including Koolen-de Vries Syndrome. Please visit their website and download the Koolen-de Vries Syndrome disorder guide under the 17th chromosome heading.
• Online Mendelian Inheritance in Man (OMIM) – offers more information about KdVS.
• Genetics Home Reference – Guide to understanding Genetic Conditions entry on KdVS.
• Orphanet – Portal for rare diseases and orphan drugs entry on KdVS.

1. Visit the Human Disease Genes website for the most up-to-date disease management and surveillance strategies and recommendations.

2. After receiving a diagnosis of Koolen-de Vries Syndrome, it is advised to work with a primary care physician such as a Geneticist or Pediatrician to determine which follow up tests may be appropriate and to determine a plan of care.

Medical

• Developmental evaluation
• Feeding assessment
• Hearing test
• Vision test
• Kidney ultrasound
• Cardiologist
• Neurologist
• Dermatologist
• Ophthalmologist
• Orthopedist

Therapy

• Speech Therapy
• Occupational Therapy
• Physical Therapy

Educational

• Early Intervention program (Birth to age 3)
• Individual Family Service Plan (IFSP)
• Individualized Education Plan (IEP) or Service Plan
• 504 Plan

• Epilepsy Foundation
• Epilepsy and Sleep – Learn more about the connection between epilepsy and sleep, the common sleep problems affecting people with epilepsy, and how to get better sleep and mitigate seizures.
• Feeding Tube Awareness – extensive information regarding tube feeding (founded by a KdVS parent!)

• IDEA (Individuals with Disabilities Education Act) – Law ensuring services to children with disabilities throughout the United States.
• Wright’s Law – Information about special education law, education law and advocacy for children with disabilities (United States).
• Individual Family Service Plan – A document and process for children birth to age 3 (USA) to help guide the family and child’s involvement in early intervention services.
• Individualized Education Plan – A document and plan created to govern special education services for a school-age child (USA).

• Chromosome Disorder Outreach – Education, Advocacy, Information and Support for all those diagnosed with any rare chromosome disorder.
• National Organization for Rare Diseases (NORD) – Provides advocacy, education and other services to improve the lives of all people affected by rare diseases.
• Human Disease Genes – “An international library of websites for professional information about genes and copy number variances and their clinical consequences.”

• CORE – Providing special support to Children of Restaurant Employees. Visit their website or Facebook page for more information or to request assistance.