The 2023 Neutropenia Family Retreat was a great experience! Find resources from the event below:
Message from David C. Dale, MD:
As Audrey Anna Bolyard and I discussed with many of you at the recent NNN meeting in Cincinnati, our research laboratory at the University of Washington continues to study neutropenia due to ELANE mutations and search for other causes for chronic neutropenia. Currently we are conducting a study using sputum samples from individuals with known ELANE mutations to confirm the mutation and sequence the DNA “up and down stream” from the mutation. We are doing this research to help with developing a way to edit DNA and very selectively eliminate the mutant gene that causes ELANE neutropenia. With your consent, we will send you a container for a sputum sample from which we can harvest enough DNA to do this analysis.
If you believe your neutropenia is from childhood and you do not know if you have a mutation causing it, we are interested in hearing from you also. We will try to help you to get DNA testing to see if you have a genetic mutation causing your neutropenia.
Anyone with interest should contact Audrey Anna Bolyard at [email protected], jamie Leung [email protected], or me [email protected], Or please just call my office 206-543-7215.
David C. Dale, MD
Anybody who wishes to learn more about Dr. Dale’s collaboration with EmendoBio can use the following QR code or watch the EmendoBio presentation from the Retreat.
Presentations
Voices of Experience
Video: https://youtu.be/BUyVDo7SEQU
Audrey Anna Bolyard, RN Presentation Slides: PDF
Neutropenia Overview – Peter Newburger, MD and Kasiani Myers, MD
Video: https://youtu.be/U8SBeFfSMjc
Presentation Slides: PDF
History of SCNIR, current status and moving forward
David C. Dale, MD & Akiko Shimamura, MD PhD
Video: https://youtu.be/xGnUj3iR69M
Presentation Slides: History and Accomplishments: PDF; SCNIR: Looking to the Future PDF
Novel Therapies – David C. Dale, MD
Video: https://youtu.be/cXKoNVNvggc
Presentation Slides: PDF
CRISPR technology as it relates to Elane SCN; EmendoBio – Asael Herman, Rafi Emmanuel
https://youtu.be/c7CHj4qAKjc
New advancements in the treatment and diagnosis of Neutropenia
Peter Newburger, MD & Akiko Shimamura, MD PhD
Video: https://youtu.be/A03wX96j3QU
Presentation Slides: Advances in Treatment: Dr. Shimamura PDF; Dr. Newburger PDF
SCN, Cyclic, BMT – Kasiani Myers, MD & Jane Koo, MD
Presentation Slides: SCN and Cyclic Dr. Koo PDF; BMT Dr. Myers: PDF
Clinical Trials 101: X4 Pharmaceuticals
Video: https://youtu.be/-YRzuXnWPdE
Adjunctive Therapies – Dr. Lakhia
Video: https://youtu.be/C7xr1q_bo_k Your Wonderful Immune System Presentation Slides PDF
Autoimmune/ Idiopathic Neutropenia – Zahra Hudda, MD
Presentation Slides: PDF
Photos
Professional Photos https://photos.app.goo.gl/vWCAa4jYvGszmLpt9
Cellphone photos shared https://photos.app.goo.gl/vHqPCNU5CNjTAeeo8
Thank you to our sponsors!
Platinum sponsor
Supporting Sponsors
What is the Retreat?
We brought our Neutropenia community together in person last summer for the first time since 2018. We may be small as a rare disease, but together we are one big family!
Our goal with these events is to help equip attendees with the skills, knowledge and support you need to manage life with Neutropenia. These in-person retreats have proven to be invaluable, leaving a lasting impression on the lives of individuals with chronic Neutropenia and their families. We look forward to the next one!
Details:
- The opportunity to connect with other individuals/families who are dealing with chronic Neutropenia.
- Presentations from Neutropenia experts and professionals with topics covering chronic Neutropenia in general, management, up to date research findings and ongoing clinical studies.
- Breakout sessions to address the different types of chronic Neutropenia and specific topics; testimony to personal stories of those living with Neutropenia; and more!
- 1:1 consultation with Neutropenia specialists.
- Kids Camp for all kids in attendance ages 4-16 brought to you by The Ella Jewell Foundation and coordinated by professional event planner Kristin McGuinness, her Sparklicious staff, and volunteers. Kids Camp will be in session Friday afternoon and all day Saturday during the presentations and break out sessions for adults (kids will join parents for all meals). We are excited for the kids to get to know each other and enjoy all the fun activities that Kristin and her staff have planned for the weekend!
- Shot parties! Demonstrate your shot technique and learn what works for others.
- A fun, relaxed weekend creating positive memories and developing a support network to help you along your journey.
- Financial Assistance for those who need it. We believe regardless of income, living with a medical condition comes with a financial burden no one should bear alone. Thanks to X4 Pharmaceuticals, we offered more assistance than ever in 2023. We are committed to continuing financial assistance for future retreats.
Questions? Email [email protected]
