Pitt Hopkins families worldwide first joined together through a support group for families on Google groups, started by two families in 2008.  Before this date there was no association or organization for Pitt Hopkins syndrome in the world.  In May of 2010 the Pauca family established a fund under the Winston-Salem Foundation in North Carolina, US, to begin raising money for research into PTHS.

In the Spring of 2012, the Davidow-Lapidus family joined the Pitt Hopkins community, and exponentially increased fundraising efforts, and have since been intensely involved in extraordinary fundraising for research into finding a cure for PTHS.  Several other PTHS families are also significant fundraisers for the Pitt Hopkins Research Foundation.

In the summer of 2013, the Pitt Hopkins Syndrome Fund became its own non-profit organization with 501(c)3 status, and was named the Pitt Hopkins Research Foundation.  It was co-founded by the Pauca family and the Davidow-Lapidus family.  The PHRF is incorporated in North Carolina, USA.