by: Parent Project Muscular Dystrophy
End Duchenne Tour 2020: Virtual Tour Stop in Long Island
On the morning of May 30, PPMD hosted our 4th End Duchenne Tour Stop of 2020. This gathering marked our 3rd iteration of our virtual tour stops, and we are so pleased and thankful to our community members and care providers that joined us from the Long Island, NY and tristate area.
As we tracked the impact of COVID-19 across the country, we moved this meeting up from later in the year to offer resources to families living in this heavily impacted area. We are so appreciative to all of our care providers that joined us, as they have been working many extra hours in the face of COVID-19. Thank you, so much, for your work and for your dedication especially to the Duchenne community.
Recording
Snapshot of the Day
PPMD’s Ryan Fischer kicked off the day by providing an overview and update on PPMD’s mission, focus areas and different ways to get involved, from joining our advocacy efforts in person or online and through local engagement, or by looking into local groups or events.
Download PDF >JOIN THE FIGHT TO END DUCHENNE
We were also fortunate to have been joined by Kevin and Dianne Carroll who talked about their family, their experience at Stony Brook Children’s with Dr. Morelli and team, and even introduced a new fun way to stay connected to your PPMD family! They also discussed PPMD Connect, the opportunity to join local events and gatherings that help you stay connected to the Duchenne and PPMD community in your area.
Download PDF >As another way to stay connected to your PPMD friends and family, we launched our first ever virtual fitness challenge! Taking place from June 15 until July 31, you can compete with PPMD in a free virtual fitness challenge, providing a great way to stay “close” while we’re living apart. This event is open to anyone, and you can join anytime during the Challenge! Invite your friends, family, and colleagues to join you as you keep each other motivated to be healthy and active. You can also ask people to sponsor you with easy-to-use fundraising tools right in the app. Check out the Challenge here!
Then we heard from Jen and Anastasia Portnoy from Hope for Javier – one of our long standing Foundation partners. Jen and Anastasia talked about their goals when they started Hope for Javier, their experience at their first PPMD Annual Conference, and how they leveraged support for things that were important to them, especially advocacy. Hope for Javier has also worked closely with other families to advocate for improved Duchenne care and meaningful change for the community. Jen also mentioned that they are so grateful to Dr. Morelli and team for working alongside them and others, and look forward to when PPMD can reschedule its visit to review the clinic at Stony Brook Children’s as part of its application to become a Certified Duchenne Care Center, which was postponed earlier this year due to COVID-19.
The Duchenne Registry
Niki Armstrong, one of PPMD’s Genetic Counselors then presented background on genetics, familial background, the Decode Duchenne Program, and The Duchenne Registry. This informative presentation helped all families, regardless of where they are in their Duchenne journey, better understand the tools PPMD provides to help you navigate your diagnosis.
Download PDF >One thing that every family can do is make sure that you are a part of, and active contributor to, The Duchenne Registry. Click here to join.
Interactive Care Panel
Ryan then provided an overview of Duchenne Care and PPMD’s efforts to help elevate care, and introduced our care panelists – to whom, again, we are so grateful for joining us. PPMD has developed family friendly and newly diagnosed guides as well as other educational resources that are available on our website.
Our Care Panel included:
Dr. Peter Morelli, Stony Brook Children’s
- Morelli talked about his role at Stony Brook Children’s and their work to become a Certified Duchenne Care Center
- He focused primarily on Cardiac Care and explained that it is essential to monitor heart health across all muscular dystrophies, especially in Duchenne, Becker, and carrier females
- There are several ways to test and monitor the heart in Duchenne and there are some options for interventional treatments to help keep the heart healthy
Dr. Yaacov Anziska, SUNY-Downstate
- Anziska talked about how to approach comprehensive care from his perspective as a neurologist
- He talked about this role being one of a “quarterback” in most settings, working to assemble and enlist the resources of a multidisciplinary care team – these care providers include pulmonology, cardiology, rehabilitation medicine, physical therapy, occupational therapies, as well as neuropsychology, social, nutrition, vocational, and other support
- Goals as patients are treated are to maintain function, which can be assessed through several measures
- There are several ongoing clinical trials in the Duchenne space (please visit our EDT Long Island site to review information specific to research and ongoing trials from our Sponsors)
Christina Rao, PT
- Christina joined us from across the Long Island Sound from our CDCC at Yale-New Haven Children’s Hospital
- Christina focused on a continuum of care across phases of Duchenne and how important it is to maintain consistency despite the fact that often times Duchenne patients see several Physical Therapists for care
- Key areas of focus are: range of motion, functional mobility, positioning and skin management – all of which are priority focus areas at different times
- Anticipatory planning is important in Duchenne – and although sometimes hard, early thinking can help ensure uninterrupted mobility and payer coverage for durable medical equipment
Dawn Dawson, CPNP/ANP
- Dawn provided an update on Stony Brook Children’s commitment to seeking certification from PPMD
- She talked about her experience in primary care parlaying into the care provided for Duchenne families and patients at Stony Brook
- It is important for the clinic team to get to know each family and patient before their first clinic visit – this way there’s a level of comfort and understanding before you are even in the clinic, this way individual needs can be addressed at the time of visit rather than as a follow up
- There is a core multidisciplinary team, as well as, a social worker and a geneticist available to families at each visit
We wrapped the day up with an interactive question and answer session with each of our speakers, moderated by Ryan. Both the Stony Brook Children’s team and the Carroll family are available if any families have questions that they can help answer.
Partner Presentations
We are also so thankful to our partners that supported this Tour stop and our efforts this year. Please be sure to visit our on-demand recording page to review research background and informative presentations from our sponsors.
NEXT UP
Thank you again to everyone – for joining us for presenting to us and for arming us with the information we need to make informed decisions.
Registration is now open for PPMD’s Annual Conference is going virtual in July. Be sure to sign up for PPMD’s Newsletter and follow PPMD’s Facebook page to stay up-to-date with conference plans.
Though nothing is ‘normal’ about our new normal, we so appreciate the time we spend with you and please know PPMD is here to support you however we can.
