Episode 12: Rare Diseases: A Pharma Leader’s Personal Journey of Hope and Motivation to Make a Difference

Charlie is a Principal at Axtria with over thirty years of experience in health care, financial services, and management consulting. He takes us through his personal journey and his experiences with rare diseases, how they impacted the individuals around him. Tune in as he explains why they are elusive, why diagnosis for these diseases is difficult, and the symptom surfing phenomena that occurs with the onset of these elusive diseases. He explains what the pharma industry must do to better detect and diagnose rare diseases and why he chooses the pharma industry to contribute to a better future for all.

In This Episode, We Cover:

• [03:10] The journey of rare diseases from a personal perspective – recounting the struggle as it unfolded from Charlie’s point of view.
• [07:52] Symptom surfing and why elusiveness in rare diseases can be so frustrating.
• [12:13] Coping with rare diseases in the family – the sacrifices and challenges.
• [15:03] The challenge of diagnosis in rare diseases and understanding what the family goes through.
• [21:47] The pharma industry and its progress in finding cures for rare diseases.

Key Takeaways:

• Rare diseases are hard on all levels – they are devastating for the families and extremely complicated to diagnose, treat, and manage.
• We must understand the patient’s and their family’s journeys to be able to help them better. It is imperative for the pharmaceutical industry to maintain continuous focus on solving rare diseases.
• There is a silver lining: Many of these diseases can now be diagnosed, and as the industry’s focus shifts to rare and orphan drugs, there is hope that we will soon have a cure for them.