From left to right: Dr. Dearborn, Dr. Dang Do, Dr. Dean, Dr. Nelvagal An Ngoc Dang Do, MD PhD
NICHD, NIH For many young investigators of rare diseases, having the opportunities to present the research and to discuss in-person ideas for partnerships with other researchers, families and organizations are crucial. This encourages continued commitment and collaboration towards common goals. I experienced this from having attended the 2018 International NCL conference in London and the 2018 BDSRA meeting in Nashville. You have made my attendance at the 2018 NCL conference possible through the BDSRA Emerging Researcher Travel Award. It is a humbling reminder for me that with all the challenges NCL families face daily, you have made a dedication to supporting others. Thank you. Best wishes as we continue to work together towards a better understanding of these diseases. Shannon Dean, MD PhD
University of Rochester School of Medicine The opportunity to attend the meeting allowed Dr.
(Read More)

In April, Shalini Rana, sibling of Shiv Rana CLN6, won third place in the Steger Poetry Prize. The Steger Poetry Prize is a prestigious award presented by celebrated poet Nikki Giovanni at Virginia Tech University. This year there were over 100 entries which were narrowed down to 12 finalists. Shalini answered a few questions for us about her brother and her prize-winning poem, Scenes//Funeral Day. Could you tell us a little about you and your brother Shiv? What are some of your favorite memories or special activities you would do with him? My name is Shalini Rana. I’m from Vienna, Virginia and am a recent graduate from Virginia Tech, where I studied Creative Writing and Professional & Technical Writing. My current work as a poet is informed by experience—namely my experiences involving my family and my brother, Shiv, who suffered from Batten Disease and died before his tenth birthday. I was fourteen at the time.
(Read More)

It is an exciting time for Batten research! As new research and potential trials are announced it is important that as a community that we understand the typical path research takes from the lab bench to patient bedside. Global Genes has developed a wonderful resource illustrating the drug development journey, the Drug Development Roadmap can be found here. Below is an outline of the path a typical treatment must take to approval. Keep in mind that for rare diseases, like Batten disease, the journey can be a little different because of Food and Drug Administration (FDA) programs that can help speed process up. One such program is the Orphan Drug Act of 1983 which addresses the unique challenges facing rare disease communities by providing incentives to companies that develop treatments for very small patient populations. Other terms you might hear are Accelerated Approval, Priority Review, Fast Track, Breakthrough Therapy, and Pediatric Priority Review Voucher Program.
(Read More)

Margie’s trip to Manitoba started with the Batten Connect Information Sessions. The goal of these sessions was to teach the community more about Batten disease and the needs of Batten families. The first session was geared toward teachers, administrators, school personnel, therapists, socials workers, and counselors. Margie presented along with three teachers from the James Nisbet School and Batten moms Tara Gair, Janelle Zazalak and moderator, Bev Maxim. The real-life experiences of the parents present drove home, in very important ways the challenges and wisdom of Batten families. The teachers were able to share with their peers the incredible ways they support their Batten student in school and the way the school community rallies behind the whole family. Later in the day, there was a session for medical professionals and anyone else interested in learning more about how they can support Batten Families. It is important that medical professionals in all fields understand the progression of the disease so they can better help families prepare for the future and get access to the equipment and support they need.
(Read More)

We are excited to share the tentative agenda for the 2018 BDSRA Family Conference with you today. To see this year’s agenda click here: https://bit.ly/2KyZ5D4 As we get closer to July we will post updates on the keynote speakers and describe the sessions in greater detail. Registration is open until June 27th, click here to begin your registration today: https://bdsra.org/bdsra-conference/ If you don’t follow our Facebook conference page be sure to “like” us so that you can get all the conference news and updates: https://www.facebook.com/BDSRAFamilyConference/
(Read More)

The often grey and cold winter month of February brings with it two reasons to feel warm and grateful. The Froio and Ferrandino families are deeply appreciated members of the BDSRA community. Both have lost beloved children far too soon in life and both continue to create legacy for them by giving back. As funding partners of the BDSRA, they contribute to further scientific research and ensure the support and education they received is available for other families in the future. Drew’s Hope (From left to right) Dave Lippert, Margie Frazier, Katie Ferrandino, and Tony Ferrandino Tony and Katie Ferrandino have been committed to be funding partners and vocal supporters of the BDSRA for more than 10 years. In 2007, their son Drew received his diagnosis and soon after the family created the foundation Drew’s Hope. During the past decade, Tony and Katie have rallied their local community year after year.
(Read More)