Real Family
Stories
Phelan-McDermid Families
The signs and symptoms of Phelan-McDermid Syndrome are well documented in the PMS conceptual model. However, the model cannot fully describe the nature of the condition, which presents an immensely wide range of challenges. CureSHANK is actively working on documenting the stories of PMS patients and their families in an effort to increase awareness of their unique needs and priorities.
The first three videos are already publicly available on the CureSHANK YouTube channel for companies who may wish to use them for planning purposes, communication with stakeholders, and even for regulatory purposes. Please check back often, as we will be adding more videos soon.
Regression:
Darus' story
One of the many tragic impacts of Phelan-McDermid Syndrome is regression - the loss of previously-acquired skills.
Self Harm:
ASA's story
About half of those living with PMS engage in challenging behaviors, such as aggression and self-injurious behaviors.
HYPOTONIA:
AVENLY'S STORY
Hypotonia--severely low muscle tension when at rest--is very common in PMS and can have devastating consequences.
Thank you to Jaguar Gene Therapy for supporting this important project. Thank you to Bill Bergen and JJ Paredes for directing and editing these stories and capturing the range of experiences of those living with Phelan-McDermid Syndrome.
If you have a story you would like to share here about your experience living with PMS, please contact us.