Pompe Care Podcast Series
Welcome to Pompe Care podcast series, today’s episodes we speak to Dr. Amal Al Teneiji, Metabolic Genetics Consultant at Sheikh Khalifa Medical City Abu Dhabi, about Pompe disease. We talk about typical diagnosis of patient journey, challenges facing, new diagnostic technologies, effective ways to support patients and families and social stigma.
Episode 1:
Can you describe the typical journey a patient might experience from
the onset of symptoms to receiving a diagnosis of Pompe disease?
04:26 min
Episode 2
What are the biggest challenges faced when diagnosing rare diseases
like Pompe disease, and how can these be overcome?
02:33 min
Episode 3
Early diagnosis is crucial for managing Pompe disease. What strategies or technologies are emerging to help identify this condition sooner?
02:14 min
Episode 4
In your experience, what are the most effective ways to support patients and families coping with the diagnosis of a rare disease?
01:50 min
Episode 5
There’s often a social stigma associated with genetic disorders. What message would you like to convey to the community to foster understanding and support for those affected by Pompe disease?
02:37 min
