Insights into Patient Perspectives: PTENUKI’s Insightful seminar at the PIPgenerating ART program.

In a significant collaboration, the PIPgenerating ART program recently hosted a seminar in conjunction with the patient organization PTEN UK & Ireland Patient Group (PTENUKI). The event provided a unique opportunity for ESRs and Artists to gain firsthand insights into the challenges and experiences encountered by individuals living with PTEN Hamartoma Tumour syndrome.

The PTEN UK & Ireland patient support group formed in 2017 and operates in both the UK and Ireland. This charity is run by patients and parents of children diagnosed with PTEN hamartoma tumor syndrome (PHTS). The group’s objective is to enhance the lives of patients, parents, and caregivers through several key initiatives: providing better patient support, increasing awareness about PHTS, offering more accurate and accessible information, advocating for earlier diagnosis and intervention, supporting greater research into treatment and prevention and improving the coordination of care for individuals affected by PHTS.

PHTS is a rare genetic condition that encompasses various syndromes caused by mutations in the PTEN gene.  The symptoms associated with these conditions can vary considerably in severity, including macrocephaly, development delay, autism and increased risk of cancer.

The seminar was conducted by Kelly Kearley, manager of PTENUKI, who gave a deeply emotional talk about her own experience as a mother of a child with PHTS. She shared her personal journey, detailing the impact on her daily life, the challenges and fears for the future, and how the syndrome affects her son. Kelly also explained the extensive care and therapies required for her son. Her presentation served as an incredibly eye-opening life lesson for all participants, but specifically for researchers, as the seminar highlighted the human aspect of the research conducted within PIPgen.