Resources

• My Brother is a Kool Kid: A Children’s Book About Koolen-de Vries Syndrome for Siblings by McKenzie Bell, Krista Hamel, Abigail Turnwald, Jeni Emerizy & Anne Spencer 

• Thrive Rare: Embracing the Uniqueness Within by Becky Tilley

• Thrive Rare: A Practical Guide by Becky Tilley

• I’m a Kool Kid: A 9 book series by Jereme Vanden Heuvel

Miya St. John and Prof Angela Morgan of Murdoch Children’s Research Institute have graciously put together the following helpful resources regarding Speech and Language for caregivers of individuals with Koolen de-Vries Syndrome. Click each link to view, download and share out with your care team!

Speech, Language and KdVS – 2023

Childhood Apraxia of Speech (CAS)

Augmented and Alternative Communication (AAC)

Dysarthria

Stuttering

Articulation disorder

Phonological disorder

Social media is such a wonderful tool to connect with members & caregivers online especially with everyone spread out across the world. We encourage you to like/follow/join the following pages as a start to connecting with our community:

• Facebook
• Instagram
• YouTube
•  X (Formerly Twitter)
• LinkedIn
• Koolen de Vries Syndrome – 17q21.31 Microdeletion Syndrome Support Group

• 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).

• Rare Chromo – Great resource for anyone learning about KdVS or something that can be shared with your Kool individual’s clinicians and specialists.
• NORD Rare Disease Database – Excellent summary of KdVS, written by Dr. Bert de Vries in 2022.
• 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.

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.”

• MIUSA – a disability lead, non-profit organization located in Eugene, Oregon (USA) advancing disability rights and leadership, globally. Click here to look through their library of helpful tip sheets!
• Miracle Flights – resource that provides free commercial flights to children in need of life-changing medical care not found in their local communities.
• mejo – mejo (pronounced me-joe) is an innovative tool that simplifies caregiving, saving our users valuable time by acting as their digital assistant. Check out our flyer here: mejo-KdVS One Pager