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PPMD’s #EverySingleOne Tour: Seattle, WA

The PPMD Every Single [One] Tour had an amazing turnout last weekend in Seattle, WA! Nearly 100 parents, patients and professionals gathered at Seattle Children’s Hospital to talk and learn about research, care, therapy, and clinical trials.

 

Recap of Presentations

Optimal Care in Duchenne 

After a brief introduction from Dr. Sue Apkon, PPMD's Kathi Kinnett, CNP gave an overview of Duchenne care. Thank you Seattle Children’s for being a Certified Duchenne Care Center and providing the comprehensive care and services that you offer our families. 

Dr. Maida Chen gave a wonderful talk around sleep. Her talk reviewed several issues:

  • Children with Duchenne are at risk for sleep difficulties that are not all breathing related
  • The unknown impact of early age sleep problems; the impact is not good in the general population
  • Steroids have changed the onset of sleep disordered breathing; guidelines to assist with sleep disordered breathing are not completely clear
  • Bipap is the treatment modality of choice for sleep disordered breathing

Dr. Aaron Olson talked about Duchenne cardiac involvement, when and how cardiac screening happen and therapies for the management of Duchenne heart failure. He also reviewed the changes in the new care guidelines. These include:

  • Cardiac surveillance and management from diagnosis
  • Cardiac MRI is the gold standard for cardiac surveillance, as soon as the participant can participate without the need for anesthesia
  • Initiation of cardiac medication by age 10, even if there is no evidence of heart dysfunction of fibrosis in the heart muscle
  • Monitoring for abnormal rhythms as needed
  • The importance of cardiac screening for carrier females, with cardiac MRI also being the gold standard for women

 

Dr. Sara Divill discussed bone health and Duchenne. Who knew that there were building materials (calcium, phosphorous), workers (osteoblasts, osteoclasts), foremen (hormones – PTH, vitamin D), quality control (muscle, muscle/bone unit) and a supply chain (diet – vitamin D and calcium) involved in bone formation.

Download Presentation Files:

Active Clinical Trials & Research Overview 

Dr. Sue Apkon gave an overview of active clinical trials and research in Duchenne. There are a large number of trials ongoing in Seattle, as well as quite a few in the surrounding area. She described evidenced based medicine, the processes of qualitative and quantitative research and phases of clinical trials. In making decisions regarding whether to participate, clinical care is always the priority.

Download Presentation Files:

Psychosocial Issues in Duchenne

James Poysky, a neuropsychologist from Houston, TX, gave an overview of the causes of behavior issues, coping with Duchenne and issues around social skills in Duchenne. While many people have no issues at all, there is an increased incidence of neurobehavioral disorders (ADHD, autism spectrum disorder, oppositional defiant disorder) and sometimes issues with neurocognitive skills (dyslexia, dyscalculia, dysgraphia).

Trust your intuition – if you think your child is having problems, get neuropsychological testing early. Remember that transition begins at diagnosis, so start early to plan for life as a grown up.

Download Presentation Files:

Genetics, DuchenneConnect and Your Family

Ann Martin, CGC gave an overview of PPMD's DuchenneConnect Registry and the Decode Duchenne free genetic testing program. Ann also discussed the importance of understanding your genetic mutation and she reviewed two new tools on DuchenneConnect that are very helpful to families.

  • The first is the Duchenne Deletion Tool, which explains if your deletion is amenable to exon skipping therapy and which exon would need to be skipped.
  • The second new feature is the Find a Clinical Trial Tool. Now you can our family-friendly summaries of clinical trials (the Clinical Trial FAQs) by ambulation status, corticosteroid use, mutation, etc. This makes finding a trial that you or your child may qualify for so much easier and hopefully less overwhelming.

Download Presentation Files:

PPMD’s FACES & Run For Our Sons

Janelle Hester, one of PPMD's FACES coordinators for the Pacific Northwest talked about some of the activities that she and fellow coordinators run in the area and encouraged families to join the Facebook group to stay in touch. Janelle also invited everyone to get involved in this year’s DREAM Auction – a wildly successful event that the Hester and Zenobio families orchestrate every three years in Tacoma.

 

Lance Hester, PPMD Board member and Run for our Sons enthusiast, also addressed the audience about getting involved in PPMD’s endurance program. The Run for our Sons program is a great way for parents to stay in shape, while also raising funds and awareness for PPMD and our shared goal of ending Duchenne.

West coast races are plentiful this year:

PPMD has guaranteed entrances to all races!

Every Single One (ESO) Tour Sponsor Presentations

Thank you to all of our industry partners who presented in Seattle. We appreciate all that you do for our community.

Download Presentation Files:

 

Caring for a Child with Duchenne: Impact on Caregivers

Dagmar Amtmann, PhD from the University of Washington reviewed a new research study, evaluating the impact of stress on caregivers. PPMD will post information about how to be involved and send information out via DuchenneConnect. Let us know if you want to be involved.

Download Presentation Files:

 

PPMD, Advocacy and You

Finally, Ryan Fischer gave an overview of the advocacy and legislative efforts of PPMD. It’s been an extremely busy year – and it's just getting started!

Download Presentation Files:

 

Physical Therapy

Meanwhile, the professionals were very busy learning about the lifelong physical therapy needs of people with Duchenne.

Download Presentation Files:

Thank you! 

It was a great day with a great turnout! Thank you to everyone who helped us prepare – especially Alanna Coyote, Marissa Robertson, and Leslie Vogel, and of course that who came and participated.

About PPMD's Every Single [One] Tour

For 22 years, PPMD has brought together families with leading experts, care providers, and industry partners through our Annual Connect ConferenceFACES meetings, and Roundtables. The Connect Conference continues to grow with more researchers, clinicians, and pharmaceutical companies joining entire families who have found the conference as an opportunity to directly interact with thought leaders and reunite with friends.

In an effort to reach every single family facing a Duchenne diagnosis in the U.S., PPMD launched a multi-year community experience called the Every Single [One] Tour. Combining each of the pillars that make up PPMD’s mission – To End Duchenne – the Every Single [One] Tour brings updates on research, advocacy, and care to cities across the country.

Upcoming stops:

View PPMD's 2017 Every Single [One] Tour schedule & find a stop near you!

 

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