PPMD Community

PPMD’s #EverySingleOne Tour: Gainesville, FL

PPMD's Pat Furlong 

 

Earlier this month, we had the privilege of having our fourth stop in 2017 on PPMD's Every Single One Tour in Gainesville, Florida. We were excited to be able to meet with many families and professionals to discuss issues around research, care and clinical trials.   

Research

After a brief introduction by PPMD’s Pat Furlong, Dr. Barry Byrne gave a presentation on some of the research ongoing at the University of Florida (UF) (download PDF). He focused on their work around gene therapy. While there are many aspects of gene therapy to be worked out, it is a promising new therapy for our community that holds hope for our boys.

Dr. Lee Sweeney presented on the work his lab is doing on preclinical efforts. UF is one 6 Wellstone Centers in the US authorized by the MD-CARE Act.  While Wellstone Centers can be focused on various types of muscular dystrophy, the one at UF is focused almost entirely on Duchenne. Dr. Sweeney’s lab is trying to understand the nature of fibrosis and inflammation in Duchenne. They also have the ability to evaluate and validate potential therapeutics for Duchenne with the various animal models. They have four mouse models and a golden retriever dog model. They have many ongoing projects to test potential therapies on these animal models, as well as seeing what effects combination therapies have in the these models.

Dr. Krista Vandenborne presented her work with the Imaging DMD research at UF (download PDF). The advantage to using magnetic resonance imaging (MRI) as a biomarker is that it is non invasive, objective, sensitive to disease progression, and a predictor of loss of muscle function. There are different types of MR they use to help study various things in the muscle. This type of imaging is now being used as a biomarker several trials (4 ongoing, 1 completed). She reported on their work in non-ambulatory boys and looking at muscles in the arms and muscles involved in breathing. They are actively recruiting boys 5-18 y/o into that study. There is also ongoing work on studying exercise in boys with Duchenne. They have developed a home bound exercise program and are using remote monitoring, as well as imaging muscle while exercising. To learn more about their work you can go to ImagingDMD.org.

Dr. Rebecca Willcocks of UF gave an overview of the OneFlorida Network and the Bone Health project they have been working on with DuchenneConnect (download PDF). OneFlorida and DuchenneConnect are both networks with PCORnet which is made up of 33 partner networks. You can find out more about PCORnet and our partnership here. OneFlorida has over 10 million patients within its electronic health record (EHR) system. In order to do research with such a large dataset, we first need to identify which patients have Duchenne. Unfortunately, at this time, there is not one code that identifies people with Duchenne within these systems. Thus, we have focused on developing an algorithm to help with this. After a more robust algorithm to identify people with Duchenne is developed, we can start asking questions research questions. One research question we would like to study more is to compare how effective some of the testing and treatment for bone health is in boys with Duchenne.  

Ann Lucas, MS, CGC gave an overview of PPMD’s DuchenneConnect Registry, emphasizing why it is important for families to join (download PDF). Ann reviewed some of the new tools on the DuchenneConnect website:

  • The Duchenne Deletion tool to help you understand if your deletion is amendable to exon skipping therapy, genetics
  • The Find a Clinical trial tool allows you to search our family friendly summaries of clinical trials by ambulation status, corticosteroid use, etc.

Run For Our Sons

Matt Hersom

Matt Hersom, whose son Sam has Duchenne, gave an inspirational talk (download PDF) about PPMD's Run for Our Sons program. He told of why he runs:  

“I do it for sanity; I do it because I am doing something that matters, I do it to be as tough as my son, Sam, and no gift is too precious.”

We can’t thank Matt and his family enough for the dedication and commitment they have brought to this program. We were excited to see all the families that decided to register that day for a run. If you want to be a member of one of their teams or want to form your own team we encourage you to register at RunForOurSons.org.

Optimal Care in Duchenne

PPMD's Kathi Kinnett 

Throughout the day we had presentations from the clinical team at UF about care at UF:

  • Dr. Mutasim Abu Hasan gave an overview of concerns around breathing and airway clearance (download PDF). The methods we currently use have really increased the lifespan and the quality of life. He explained that once a child is able, usually around age 6, they should have a yearly respiratory evaluation including a spirometry test.
  • Dr. John Sladky stressed the need for a comprehensive clinic to meet the needs of the patient. He discussed the variability of this disease and the impact genetic modifiers play of which we still don’t have a good understanding.  He stressed the importance to discuss with your doctor the use of corticosteroids which is a recommendation of the Care Guidelines. 
  • Dr. Renata Shih discussed the standards of care related to cardiac care. She stressed the importance of cardiac monitoring starting at around the time of diagnosis. Starting treatment early can be helpful, so routine monitoring is important. Women who are carriers should be evaluated as well starting in late teens and then every five years.
  • Dr. Jennifer Co-Vu discussed the important of the cardiac imaging techniques along with the pros and cons of the various methods which include echocardiogram and cardiac MRI.
  • Dr. Angelina Bernier discussed the endocrine issues that can come up with corticosteroid therapy which can include adrenal insufficiency, and bone loss and fractures, and delay of puberty (download PDF). Monitoring for these conditions was reviewed along with potential therapies and interventions.
  • Dr. Sarah Molinari stressed that she worked with families to have thoughtful and timely interventions to maximize a person’s function and mobility while minimizing risks. She reviewed her recommendations with regards to fractures, contractures and scoliosis (download PDF).
  • Kyle Hazen, RD, LDN encouraged families to use Myplate which can be accessed at www.choosemyplate.gov (download PDF). Tips he gave included limiting sugary snacks, choosing higher quality lean meats and limiting processed meats, encouraging hydration and fiber intake from foods to manage constipation.
  • Physical and Occupational therapy
    • Dr. Claudia Senesac reviewed some basic therapies for addressing life long care needs in Duchenne (download PDF). She reviewed preventative stretching, use of night splints, recreational activities, being careful not to over fatigue.
    • Jenna Lammers, MSR/PT reviewed equipment that is useful and tips on selecting the right thing for your child.
    • Heather Simpson, MOT, OTR/L discussed daily living tips that can help to enhance life for a person with Duchenne.

PPMD’s Care Standards and recommendations are always available to you online:

Industry sponsors

A thank you to our industry sponsors who presented in Gainesville. We appreciate all you do for our community.

Advocating for your Child

Kids Room

Matt Hersom gave another excellent talk around advocating for your child in school (download PDF). He recommended that when preparing for your child’s IEP, try to anticipate what your child’s needs will be in a year. He recommends asking for and taking everything you can get. The IEP defines the expectation of student and school which is critical. It is a contract and you should know what is in it, what is provided and what is asked of the school to do. Other ideas include having a teacher education packet to let the teacher know more about Duchenne; try to find ways you can develop empathy in your child’s classmates/grade. Having an aide becomes more important with declining physical abilities (scribe, computer, save energy for thinking not writing) and it is important that the aide is a good fit for your child. You are the expert and the advocate. Don’t be afraid to be assertive, demand what is provided, but you also have to be flexible and decide which battles are worth fighting. Don’t sacrifice your child’s happiness, ability, or aspirations for convenience.

Pat Furlong wrapped up the day with an overview of the importance of everyone being involved in advocacy and the legislative efforts of PPMD. She stressed the importance of each family having a relationship with their representatives. Be on the lookout for ways you can get involved with our advocacy efforts. 

About PPMD's Every Single [One] Tour

For 23 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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