July 2018                                                                                        Volume 29, Issue 5
2018 BDSRA Annual Conference Research Opportunities for Families

BDSRA is excited to announce a number of opportunities for families to participate in research at the 2018 Family Conference! To learn more or to sign up for any of these efforts visit the scientific registration tables near the main registration desk.
Katya Herman, Chiltern Music Therapy
What: Short video interviews
Why: To add to Chiltern Music Therapy research on how music therapy improves quality of life for Batten patients, Katya would like to interview families who have experience with music therapy.
Who can participate: All families
Children's Hospital of Orange County (CHOC)
What: Blood Spot Card Collection
Why: CHOC is collecting blood spot cards from all individuals affected by Batten disease to advance scientific research and newborn screening efforts.
Who can participate: All individuals affected by Batten disease
Melissa Feuerborn, University of Kansas School of Medicine
What: Online survey with follow up personal interviews
Why: Melissa is conducting a resource assessment by interviewing families to better understand their medical and social needs. This assessment will help identify gaps in care and ways the Batten community can better serve families.
Who can participate: All families
National Institutes of Health (NIH)
W hat: Families can learn about the initiative and get more information
Why: To identify clinical or biochemical markers that can be used as therapeutic outcome measures for CLN3, evaluate clinical aspects of CLN3 to provide tools for future therapeutic trials, and establish a biorepository of samples from well-characterized CLN3 patients for future research related to CLN3.
Who can participate: Patients with CLN3
U niversity of Rochester Batten Center
What: Batten Natural History, Neuropsychological Testing, Contact Registry, Medical Records Study, EEG
Why: University of Rochester Batten Center is collecting information from all individuals affected by Batten disease for a natural history registry. The registry is a foundational tool that advances research in all forms of the disease.
Who can participate: All individuals affected by Batten disease
FDA Approves Epidiolex (cannabidiol) for Treatment of Seizures in  Lennox-Gastaut Syndrome and Dravet Syndrome 

The FDA approval of Epidiolex ®, first prescription pharmaceutical formulation of highly-purified cannabidiol (CBD) and the first in its class of anti-epileptic drugs, for the treatment of Lennox-Gastaut Syndrome and Dravet Syndrome is important news for all those who suffer from a seizure disease. You can read the FDA's groudbreaking announcement  here.

This approval may clear the way for additional studies in the use of cannabidiol for other epilepsy diseases. 

In 2017 BDSRA funded Josh Dearborn, Ph.D   from Washington University in St. Louis working in CLN1 on a project entitled  Cannabidiol for the treatment of intractable seizures in infantile Batten disease .

You can see a poster from the 2017 BDSRA Annual Family Conference on Dr. Dearborn's work here.

Dr. Dearborn also answered parent questions during an Ask-An-Expert chat on our closed Facebook page. You can read the transcript here

This is a useful glossary of cannabinoid terms used in the press release and other documents.
Child Neurology Foundation Peer Support Work Group

BDSRA is proud to be a part of the Child Neurology Foundation Collaborative Peer Support Work Group. The work group, part of a Patient Centered Outcomes Research Institute (PCORI) grant, was formed to assess the strengths and gaps of peer support in the larger child neurology community. 

Early this year BDSRA staff participated in a qualitative needs assessment where we discussed the ways the Batten community of parents and caregivers support one another. This included highlighting the annual family conference and closed Facebook group. In June we were a part of a virtual meeting to discuss the findings from the needs assessment  and literature review. 

Learn more about the Work Group's latest discussion and priorities by clicking here

Advocacy Resource: Rare Action Network

NORD's Rare Action Network is a hub of information for parents and rare disease advocates who are interested in influencing policy change at any level of government. The website includes general information on rare disease, a State Action Center, and educational tools. 

The State Action Center includes information on each state's insurance policy, how they rank compared to other states on rare disease issues, and information on who in each state you should contact about insurance, policy issues, and ways you can get involved. 
5 Myths About Orphan Drugs & the Orphan Drug Act

The below resource was recently published by NORD to dispel misconceptions and empower the  rare disease 
community in rallying around the protection of the Orphan Drug Act. 

We encourage you to share it with your community! 

Recent Fundraising Events

Thank you to the following hosts (and those not listed below who requested to be anonymous). Your time and energy to organize fundraising events to donate to BDSRA is deeply appreciated by our entire community. 
  • Dollars and Scents at the Candle Lab - Organized by the Betz family, the Diaz family, the Graham family and the Riddle family.
This month we have new Facebook fundraisers organized by:
Diana Lyons
Zachaeus Barker 
Your support makes our mission possible! 
In Loving Memory 

Remember with us those we have lost to Batten disease.  It's in their honor and memory that we work every day to build a brighter future for families.

Thank You BDSRA Community of Donors! 

Thank you to the donors last month who gave so generously to honor and in memory of loved ones and our community as a whole. We want to acknowledge you for your contributions. They allow us to keep serving families and advancing the science of a meaningful treatment. Your dollars and support have helped create the leading patient organization in the Batten disease community, and we are dedicated to continue that legacy of children and families. 

Batten Disease Support and Research Association | (614) 973-6013 | i nfo@bdsra.org | w ww.bdsra.org