June 2018                                                                                        Volume 29, Issue 4
International Batten Awareness Day 2018!

On Saturday, June 9th we joined as a community to celebrate the first International Batten Awareness Day! It was so wonderful to see everyone sharing their thumbprint art and spreading awareness about Batten disease worldwide. To learn more visit our webpage!

Sibling Highlight

Batten sibs are incredible, inspiring, dedicated, caring, and unique individuals. They g row up quickly and often sacrifice their own plans to help take care of their brothers and sisters who have Batten disease. 

We are so proud to highlight Shalini Rana this month. In April, Shalini won third place in the prestigious Steger Poetry Prize for her poem  Scenes//Funeral Day.

To learn more about Shalini and read her poem click here
Conference  Registration Deadline!

Don't forget to register for the 2018 BDSRA Annual Conference by June 27, 2018. You can start your registration  here.

Conference Updates

We will again this year have Friday afternoon breakout sessions. The topics of these sessions come from post-conference community feedback as well as new or emerging topics that will be important for families. 

Concurrent Sessions 1
  • Grandparents and Extended Family Peer Support: Grandparents, aunts, uncles and others closely involved with Batten families share their experiences with each other. 
  • Occupational and Speech Therapy: Join Occupational Therapist Jeni Goddard and Speech Therapist Andrea Boerger from Nationwide Children's Hospital to talk about ways therapies can make an impact on your child's quality of life.
  • Creating a Legacy For Your Child: Parent panelists, Heather Dainiak, Tony and Katie Ferrandino, Sara Kennicott, Fred Surrey and, Jen and Tracy VanHoutan will tell their deeply personal stories about wanting to make a difference and wanting the larger community to participate in remembering their child by supporting causes close to their hearts. There will also be time for Q&A moderated by fundraising professional Amy Funk of Ter Molen Watkins & Brandt, LLC where you can ask questions about how you can create a community around your child's legacy.
  • Building a School Community Around Your Child: Halia Duplak, a Learning Support Teacher at the James Nisbet School in Winnipeg, Manitoba, will discuss the school's unique approach to building community. She will also discuss the ways they work with families to create a welcoming environment for children affected by Batten disease.
Concurrent Sessions 2
  • Grandparent and Extended Family Ask-A-Researcher: Join us for an hour of Q&A with Batten researcher, Sue Cotman Ph.D.! Dr. Cotman will answer your questions about Batten disease, its progression, and the latest research. 
  • Symptom Management: We have a new format for this session! You will have the opportunity to take a few minutes to introduce yourself to our Batten physicians and ask questions in a "round robin" format. Physicians cannot give you direct medical advice but can help you explore more options with your doctor at home.
  • Music Therapy 101: Chiltern Music Therapy therapist, Katya Herman, will discuss the impact music therapy can have and work with parents and extended family members to teach them techniques to use at home.

Emerging Technologies in Rare Disease

CRISPR is one of the many new technologies researchers are using to treat and cure rare genetic disease. CRISPR stands for Clustered Regularly Interspaced Short Palindromic Repeats and it is a tool for precision gene editing.

This episode of  NOVA is a deep dive into how researchers are using CRISPR for everything from animal conservation to gene therapy. Skip ahead to minute 32 to see how gene therapy is helping the ALD community. 

For a short overview of how CRISPR works check out this 1.5-minute  video.
In the past few years BDSRA has funded projects that use CRISPR including:

  • Dr. Anthony Cook from the University of Tasmania working in CLN2/CLN3 on a project entitled CRISPR/Cas gene editing of Batten disease genes in patient-specific stem cells.
  • Drs. Imke Tammen and Chris Grupen from BARN - University of Sydney working in CLN7 on a project entitled Generation of a sheep model of Batten disease using the CRISPR/Cas9 gene editing system

BDSRA's 30th Anniversary 
Annual Report

For 30 years, and with great pride, BDSRA has served families of children with all forms of Batten disease. It was a joy for us to compile this report and we hope you enjoy reading it! 

Recent Fundraising Events

The BDSRA Community has been very active this spring! 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. 
  • Catie and Annie's Cops Relay (California) in honor of Annie Allio and in memory of Catie Allio
  • O'Leary Family T-shirt Sale (Online) in honor of Matty O'Leary
  • Bee-ing Erika (Florida) in memory of Erika Spaide
  • Ethan's Reason Neighborhood Garage Sale (Minnesota) in memory of Ethan Davies

This month we have new Facebook fundraisers organized by:

Matthew Robert Bradt                                                 Marilyn Lutsko Noel
Nancy Lynn Conley                                                      Stephanie Susavage
Donna Fogle                                                                 TaShawna Todd
Danika Linville                                                              
Your support makes our mission possible! 
Fundraiser Highlight: The Medley Family!

On Saturday, May 26th, the Medley family hosted the 3rd annual "Kick Batten for Jake" kickball tournament and silent auction, in memory of their son and brother, Jake, who passed away in 2014 from CLN2. The tournament was the most successful one yet, as they raised $5500.00 for BDSRA! Everyone had a fantastic time, and team "Champions" won for the 3rd year in a row! The Medley family can't wait to host the 4th annual tournament in 2019, as they continue to honor Jake and support BDSRA, whose members were an incredible support to them the 5 years that Jake endured living with Batten disease. 

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