This past weekend, I, along with Ashley had the pleasure of attending the first CTX Patient Advocacy Board meeting. In attendance were members of several CTX affected families, as well as members of the patient advocacy team, and medical science liaison team from Retrophin, Inc. The meeting was moderated by members of the Global Genes support organization. The meeting agenda included a disease overview, a scientific Q&A where families asked questions of Dr. Shailendra Patel who attended via teleconference.
Additionally there was patient and caregiver testimony and discussion about the various challenges that are presented with CTX. One thing that was further cemented was the broad spectrum of the genotype/phenotype relationship that the CTX affected individuals present. Despite being involved with and hearing stories from so many families over the 12 years that I’ve been involved I still learned a lot and gained a new understanding on some of the other symptoms that can be present but aren’t really documented in the literature or studies that pertain to CTX.
Overall it was a very successful meeting and wonderful to meet and spend the afternoon with several new CTX family members as well as seeing some that I haven’t seen in quite a long time.
I look forward to our next Patient Advocacy Board meeting.