Thank you to everyone who attended our first community webinar!
Following the webinar, we identified several critical action items to better support families affected by PDE and advance our collective understanding and management of this condition. Here’s what we heard:
- Post-Diagnosis Support: We’re looking to establish a mentorship program, pairing families new to the PDE diagnosis with experienced mentors who can offer reassurance, advice, and a compassionate ear.
- Enhancing Awareness: We must make better use of existing resources to educate and support our community.
- Newborn Screening Advocacy: We aim to support efforts to include PDE in newborn screening programs, ensuring early diagnosis and intervention.
- Feeding & Weaning Strategies: We will look for ways to provide practical advice, tips, and tricks to help parents navigate the challenges of feeding and weaning, tailored for children with PDE.
- Nutritional Guidance: Developing and sharing resources to assist in calculating lysine and protein intake is a priority to support dietary management in PDE.
- Family-Friendly Diet Adaptation: We plan to offer guidance on adapting recipes for the whole family, making quick and easy modifications for lysine restriction without preparing separate meals.
- Understanding Metrics in PDE: We recognize the need for clearer explanations of the metrics used in PDE management, such as Alpha-AASA/Delta1-P6C, and aim to provide context and reassurance by sharing experiences from families whose children are thriving.
Get Involved: If you’re inspired to contribute or have a project that aligns with our mission, we’d love to hear from you. Please reach out to us at anna.sowa@curepde.org to share your ideas, experiences, or to join our initiatives. Together, we can make a significant impact in the lives of those affected by PDE.
i didn’t get to hear it, because their was no email to remind me of when it happened. i’d be happy to reserve a day off just to mark the next one off on my calendar. also, i want to know how much kids should take, so adults can figure out what their limits are, as well. i’d think that it would be easy to find out since most of the members here are children. it makes sense to figure this out now, so you can figure out the max when everybody grows up.
Hi Scott! Are you asking how much B6 an adult should take? In the most recent consensus guidelines we recommend adults take 200-500 mg of B6 per day. If you have not seen the guidelines they are at the link below. Feel free to reach out if you can not access them or reply if you have a more specific question and I misunderstood. https://onlinelibrary.wiley.com/doi/10.1002/jimd.12332