For the newly diagnosed

Congratulations! After a (very) long journey your child was just diagnosed with PACS1 Syndrome.  We are happy to tell you that the PAC1 family is a lot bigger than you might think! Many families are told that their child has a syndrome with only a handful of other children and that little information is known about the syndrome.  This is thankfully not true.  As of November 2017 there are 62 children diagnosed.  There are more research studies being undertaken with SimonsVIP and NORD.

Here are the first  things you should know about PACS1:

  1. There is a family support group that is very active and supportive.  They are willing answer your questions and to share their stories with you. Our families are from all over the World.  Please contact Kerri at to be added.
  2. SimonsVIP has begun a repository for PACS1 and other rare syndromes.  Please contact Farhad at for more information on how to enroll your child.
  3. Getting a diagnosis does not end your appointments with a genetics.  We recommend continued genetic counseling.
  4. Although we are not medical professionals, the parents of PACS1 children recommend that if you have not started please look into physical, speech and occupational therapy for your child.
  5. When you meet with your doctor you can provide him/her with the latest research that may help answer their questions regarding PACS1.