July 2021 Volume 32, Issue 7
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2021 BDSRA Virtual Family Conference
Thank you to all of our Batten Community members that attended the 2021 BDSRA Virtual Family Conference. We hope that you learned new things, made memories and connected with other families. In order to prepare for next year, we would love your feedback on the conference and featured sessions. To take the post conference survey, click the button:
Access the 2021 Conference Sessions
If you registered for the 2021 BDSRA Virtual Family Conference, you can access recordings of sessions for up to a year after the conference ends! You can access sessions by going to your BDSRA conference app or by logging in on www.bdsraconference.org.
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BDSRA is looking to add parent and non-parent board seats:
Applications are due August 31th
To see a full description of roles and responsibilities please click here.
Note from Board Member Dr. David Pearce about their
journey to the BDSRA Community:
I first started working as a researcher on Batten disease in 1998. I had a very strong bond to families that I originally meet through telephone conversations. The seminal moment occurred at the first BDSRA Family Conference, in Nashville, TN, 1999.
At this meeting, I went to the introductory social and an individual named Hugh Smith introduced me to Shelly, one of his two daughters with Batten disease. This was the first child I had ever seen or had contact with that had Batten disease. My instincts made me want to run back up to my hotel room, but that is not the type of person I am, so I made it important to interact with as many children as possible at this conference and all the other conferences I have been to. Over the years through my research, I have had many successes and failures but anybody who has worked with me will tell you that the children and the families are constantly on my mind.
About 12 years ago, while leading the largest research lab in the United States in Batten Disease at the University of Rochester, New York, I was afforded the opportunity to grow a much broader research program at Sanford Health, Sioux Falls, SD. During this period, I have continued to research Batten Disease but made it my mission to grow other programs and researchers to study Batten Disease. This was by design as I’ve been able to become an advocate for research across many areas as well as Batten Disease and other rare diseases. It was apparent to me that a singular lab could not defeat Batten Disease alone. Therefore, being in a position with more influence and resources, this is the direction I chose.
Taking on the responsibility of growing a research program for health system is a considerable role. During this period, I have picked up significant administrative experience and I have matured as an individual. Subsequently I serve on many boards and apply this knowledge to the BDSRA Board of Directors. Concomitantly, support from the BDSRA for my research was always welcome, however with this move, I had the luxury of not having to request such support anymore. Without getting into gory details, shortly after this move, the BDSRA board of directors was, how should I say politely, not functioning optimally. Thus, and I must give a shout out to many families for encouraging me to do this, I decided to run and join the Board in 2013.
Initially, I felt that I was a representative for the SIBS. Many of you reading this will know I have always had a close bond with this group. Additionally, my scientific background is used on the Board in regard to evaluating proposals and potential partnerships. More recently the wealth of experience that I have gained overseeing a large research program and sitting at the corporate table for Sanford Health has given me a broader understanding and influence in my role on the BDSRA board.
In summary, while still a Batten Researcher, I am as much an advocate for the families and children of Batten Disease and am proud to serve on the Board of the BDSRA. Finally, I feel like I should apologize to so many families that have had a profound effect on my life. There simply is not room to mention all the children that we have lost and their families.
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Advocacy Toolkit Launched on BDSRA Website
Advocacy is at the heart of BDSRA's mission. Our hope is to better equip the Batten community and our allies with necessary tools to build on essential advocacy efforts. BDSRA is proud tp launch our Advocacy Toolkit on our website which has resources, facts and ways to take action to advocate for a cure. You can also check out our social media accounts every #ToolboxTuesday for digestible advocacy tools to enhance your toolbelt.
Let's build a better future together.
Follow our social media accounts or click the button to access our Advocacy Toolkit.
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Do You Follow BDSRA on Social Media?
Want to see more BDSRA content? Don't miss out on upcoming events, information, campaigns and community posts! Follow @BDSRA on Facebook, Instagram, LinkedIn and Twitter to stay in-the-know on all things happening in our Batten Community!
Click below to follow all of our accounts:
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Featured August Event: Newly Diagnosed Meet & Greet
A place for new families to meet one another, find resources and discover opportunies for support throughout their child's diagnosis. Learn more about BDSRA, our mission and how we can help. Please join us for this free event on August 10th at 6:00pm EST.
To reserve your spot, or to send this event to other families, please click here:
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BDSRA Community
Kesley's Story - The Progression of Batten Disease
Kesley's Story: The Progression of Batten Disease, A Parent’s Worst Nightmare was written by Warren and Lois Shuros – her Mom and Dad after realizing their experiences could help other families going through similar situations. Kesley's parents describe the story as a description of our life with their daughter that provides information about Batten Disease progression and the impact it has on families. It gives an in-depth documentation of the diagnostic journey, genetic testing, medications, the progression of Batten Disease and Kesley's life experiences. Thank you to Warren and Lois for sending BDSRA Kesley's Story in order to share it with other Batten families.
Click the button to view Kesley's Story: The Progression of Batten Disease, A Parent’s Worst Nightmare:
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Newborn Screening Act Passes the House in Key Legislation
Attention Advocates!
Newborn Screening Saves Lives Reauthorization Act passed the House!
Thank you to Rep. Lucille Roybal-Allard Jaime Herrera Beutler Mike Simpson Congresswoman Katherine Clark for their support of this key legislation!
The Newborn Screening Saves Lives Reauthorization Act will reauthorize critical federal programs that provide assistance to states to improve and expand their newborn screening programs, support parent and provider education, and ensure laboratory quality and surveillance for newborn screening.
As an advocate for patients with rare diseases, using your voice can make a difference.
Tell your senator to support this legislation today through EveryLife Foundation by clicking here:
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Upcoming Events for Batten Families
New dates for NCL 2021! The International Congress on Neuronal Ceroid Lipofuscinosis event will take place at Washington University, St Louis, October 6-10, 2021 and will be a 'hybrid' conference. This means both in-person and online-only registration options will be available. There is also a reduced registration fee for families available!
This a parent-friendly conference; decoding the science for everyone to understand. BDSRA's Amy Fenton Parker and Morgan DeBoth will be in attendance. All are welcome!
More details can be found by visiting: www.ncl2021.org
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Research Updates
Dr. David Pearce Presents For B1: Batten Research Overview
Dr. David Pearce presented during the 2021 BDSRA Virtual Family Conference on "Batten Disease: An Overview" followed by a robust live Q&A with Dr. Jonathan Mink. This presentation goes over diferent therapies, treatments, testing options and how Batten Disease affects the molecular structure of the body.
To view the video, please click the button:
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Natural History Study enrolling virtually now, until it’s safe for families to travel.
https://clinicaltrials.gov/ct2/show/NCT03822650?cond=cln5&draw=2&rank=1
Caregiver Focus Groups for CLN5
Dates will be determined by the families’ availability. View article here.
Neurogene announces the European Medicines Agency (EMA) has granted Orphan Drug Designation (ODD) to CLN5 Batten Disease Therapy. This announcement follows the FDA’s Orphan Drug Designation which demonstrates continued progress in establishing a Batten disease franchise.
To read the full press release click here.
Neurogene is currently working with RTI Health Solutions (RTI‑HS), an independent, nonprofit research organization to better understand the disease progression of Batten disease subtype CLN5 from the caregiver’s perspective.
Caregivers of children (either currently living or deceased within the past 12 months) with Batten disease subtype CLN5 who are eligible for this study (Qualitative Interviews With Caregivers of Children With CLN5-Specific Batten Disease) and live in the United States will be invited to participate in a telephone interview with two RTI‑HS interviewers lasting approximately 90 minutes. Interview participants will receive an electronic gift card (e.g., Visa, Amazon, or other online store of choice) for $150 in appreciation for their time.
During the interviews with RTI‑HS, caregivers will be asked to describe their child’s and their own experiences surrounding the journey to and following diagnosis, including observed signs and symptoms of the disease, delays in any of the developmental milestones, and perceived impacts of Batten disease subtype CLN5 on the child, caregiver, and family.
The discussion will be audio recorded and transcribed to ensure the interviewers capture the important points that participants share and to help write a report summarizing the results of the interviews. Participants’ names and any other identifying information will not be associated with the transcripts. The audio recordings will be destroyed once a final report is written.
If you are interested in participating in a telephone interview, please call Danielle at L&E Research at 720-647-3228 who will ask you a few questions to confirm that you qualify for this study. If you qualify, L&E Research will schedule you for an interview at a day and time that is convenient for you.
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Research Study Opportunity
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July 2021 Facebook Fundraiser Spotlight:
We are so excited each day to log in and see the list of your names growing. Thank you for sharing and supporting our mission on social media! You can visit each fundraiser by clicking on the names above. Thank you!
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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.
Willow Grace Denton
03/21/08 - 07/2/21
Adam Taylor
06/26/96 - 07/01/21
To have your loved one's name placed in the Illuminator please reach out to Morgan at mdeboth@bdsra.org.
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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
You can view recent donations to BDSRA
by clicking here.
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Your gift makes all the difference in the lives of families.
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Batten Disease Support and Research Association
(614) 973-6013 | info@bdsra.org | www.bdsra.org
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