We kicked off our fall Every Single One Tour stops in West Virginia this past weekend! We appreciate all of the families, speakers, and volunteers that spent the day with us in Charleston.
Psychosocial Issues in Duchenne
James Poysky, PhD, discussed some of the psychological issues in Duchenne (download PDF). Some key takeaways from his presentation were:
- There is an increased risk of behavior and learning problems in Duchenne
- 3-19% of people with Duchenne have some symptoms/behaviors of autism
- Ages 8-10 and adolescence tend to be difficult stages for coping
- Transition (focusing on a healthy and productive adulthood) should begin at diagnosis
- It is important to care for parents and siblings too
Optimal Care in Duchenne
- I discussed some important topics of emergency care -- safe/unsafe anesthesia, being careful with oxygen, preventing/treating adrenal insufficiency, and the signs of fat embolism (download PDF).
- Sasi Boden, MD (Endocrinology, Nationwide Children’s Hospital) talked about bone health, growth hormone, puberty, blood glucose issues, and the risks of adrenal suppression (download PDF).
- Richard Shell, MD (Pulmonary, Nationwide Children’s Hospital) talked about the importance of monitoring breathing at least once a year (starting at diagnosis), pulmonary function testing, the importance of cough and keeping airways clear, checking and assisting breathing during sleep and while awake, and what to watch for when using oxygen (download PDF).
- Kan Hor, MD (Cardiology, Nationwide Children’s Hospital) reviewed care and monitoring of the heart, reviewed heart failure medications, discussed the need to see cardiology at least once a year from diagnosis, and the importance of echocardiograms and cardiac MRI.
Genetics, DuchenneConnect, and Your Family
Jennifer Ely, MS, CGC, genetic counselor with PPMD’s DuchenneConnect team, spent time discussing genetic testing, talking about DuchenneConnect (our patient reported outcomes registry), and Decode Duchenne, our free genetic testing and counseling program (download PDF).
Industry Sponsor Presentations
We were grateful to have several industry representatives with us as well:
- Roche - Karl Yen, MD, discussed the antimyostatin that Roche has recently acquired from BMS (RG6206) and the progress they are making with their trial (download PDF).
- Pfizer - Beth Belluscio, MD, PhD, presented the Pfizer antimyostatin trial and their progress as well (download PDF).
- PTC - Allie Freitas talked about ataluren/Translarna (they are busy working to get ready for their Advisory Committee 9/24) and answered questions about Emflaza (their recently approved deflazacort) (download PDF).
- Santhera - Jodi Wolff, PhD presented the results from the Delos trial, the ongoing Sideros trial, and the progress of idebenone in both Europe and the US (download PDF).
- Sarepta - Brett Billmeyer discussed Sarepta’s ongoing Essence trial (exon skipping for exons 45 and 53), as well as their plans for gene therapy (microdystrophin and GALGT2) and utrophin modulation with Summit Therapeutics.
- Summit - Michelle Avery, PhD, brought us all up to speed for the Ezutromid PhaseOut DMDclinical trial, upregulating utrophin (download PDF).
The Duchenne Landscape, PPMD, & You
We rounded out the day with an overview of the many active research and clinical trials currently taking place, followed by an overview of PPMD’s focus areas and how every single member of the community can get involved (download PDF).
Again, thank you to the families that attended, our speakers from Nationwide, James Poysky who made the trip from Houston, all of our industry presenters, and especially to the attendees from the nursing program at the University of Charleston that were a tremendous help throughout the day!
There are so many exciting things happening in the Duchenne community. We appreciated the opportunity to connect everyone at the tour with us, and with each other.
We look forward to seeing you on the road as we head out to Boston, MA on October 14, Albuquerque, NM on November 4 and Pittsburgh, PA on November 4!
About PPMD's Every Single One Tour
Combining each of the pillars that make up PPMD’s mission, the Every Single One Tour brings updates on research, advocacy, and care to families across the country, featuring a roster of leading experts in the Duchenne space. This is also an opportunity to connect with local families and, when possible, explore your area Certified Duchenne Care Center. As always, each meeting is free with breakfast and lunch provided. Kids are also welcome to attend and participate in PPMD’s Kids Track.
Upcoming 2017 stops:
- New York / New Jersey Metro - Winter 2018
- Grand Rapids, MI - Spring 2018
- Minneapolis, MN - Spring 2018
- Birmingham, AL - Spring 2018
- Billings, MT - Fall 2018
- Dallas, TX - Fall 2018
- San Francisco Bay Area, CA - Fall 2018
- Cincinnati, OH - Fall 2018
* Specific dates and locations for our 2018 visits will be added to our website over the coming weeks.
View PPMD's tour schedule & find a stop near you!