Helpful Links:


Rare Disease Day USA:

Rare Disease Day:

Undiagnosed Medical Refugees:

RARE connect:


NIH Undiagnosed Disease Program:


Aware of Angels:

Autism Speaks:

Autism Speaks Resource Guide

AADC Research:

Career Assistance for People with Autism

National Center for Autism Resources & Education

AutismNOW Transition Planning

Aquatic Therapy for Children with Autism


In Need of a Diagnosis:

Rare Disease Foundation:

Cord Blood Banking:

Chromosome Disorder Leaflets from Unique-They have been collecting information about specific chromosome disorders in their comprehensive offline database for nearly 25 years and since 2003 have spent many thousands of hours producing family-friendly, medically-verified, disorder-specific information leaflets. These leaflets are dynamic documents and will be updated as new information becomes available. New leaflets about other chromosome disorders will be coming on stream all the time. Web version and print versions available.  Very helpful as handouts for teachers, therapists and family members.

Chromosome Disorder Outreach, Inc. is a non–profit organization, founded, supported, and run by parents just like you. Our families live around the world and CDO provides a network of support and information through an extensive library of available up–to–date articles, detailed registry, newsletters, and a listserv that’s online 24 hours a day, every day.

Global Genes Project: Great resource for parent support, up to date news/articles, and events:

Friendship Circle, Special Needs Resource:



Utah Rare Disease Day Events:





1p36 Deletion Syndrome-

2q23.1 deletion/duplication disorders-

Angelman Syndrome-    &

National Autism Association-

PND Association:

PND Association:

Rare Bone and joint disease network:

Charcot-Marie-Tooth Disease-

Chromosome 22-   (Chromosome 22 Central supports all chromosome 22 disorders, including 22q11.2 Deletion (Velocardiofacial and DiGeorge Syndrome) 22q11 Microduplication Syndrome, Emanuel Syndrome and the 11/22 translocation, Cat Eye Syndrome, Mosaic and Complete Trisomy 22, Chromosome 22 Ring, 22q13 Deletion (Phelan-McDermid Syndrome) and many unique chromosome 22 conditions.)

Cri du Chat Syndrome-

Fragile X Syndrome

Jacobsen Syndrome

National Down Syndrome Society-

N-glycanase deficiency (NGLY1)

Triple X Syndrome

Trisomy 13/Patau Syndrome

Trisomy 16

Trisomy 18/Edwards Syndrome

Turner Syndrome-

Williams Syndrome

Wolf-Hirschhorn Syndrome