We are excited to see everyone at the family conference in Pittsburgh PA this summer! The conference
will be at the The Wyndham Grand Pittsburgh Downtown, and registration is currently open.
Conference sponsorships are available, and we welcome all who want to partner with us to celebrate the 30th anniversary of BDSRA.
Click
here to become a sponsor.
Volunteer registration is also open! We are looking for volunteers in registration, meal ticket collectors and childcare. Sign up
here.
To read more about registration, see the tentative agenda, or apply for a stipend visit our conference website page.
As year we celebrate the 30th anniversary of BDSRA, we would love to see old photos and hear stories you may have. Please email share30@bdsra.org for more information.
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Thank you to the donors the last two months who gave generously to honor and in memory of loved ones and our community as a whole. We want to acknowledge for your contributions, they allow us to keep serving families and advancing the science of a meaningful treatment. This year we celebrate 30 years! Your dollars and support have helped create a leading organization in the Batten Disease community and we are dedicated to continue the legacy of children and families.
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Meet Dr. Alfried Kohlschuetter
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What is your name and current position?
Alfried Kohlschuetter, MD, PhD, retired Professor of Pediatrics at the University Medical Center Eppendorf in Hamburg, Germany
How did you get involved with Batten Disease research?
While doing research on brain chemistry in various genetic diseases in the later 70ties, Professor Hans-Hilmar Goebel, a neuropathologist in Goettingen, Germany, at that time, told me about a strange group of storage diseases that were mostly defined by electron microscopic findings in patient tissues and were called Neuronal Ceroid Lipofuscinoses (NCL) or Batten Disease. Almost nothing was known about the causes of these diseases at that time. I thought this was an interesting thing to tackle.
Click
here to continue reading
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What is Patient Advocacy Really About?
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As changes in the regulatory landscape occur, one thing is increasingly important: the patient voice and the role of advocacy organizations. Successful pharmaceutical industry partners, the Food and Drug Administration and others know that the forward progress of studies and treatment development is dependent on having a strong patient community. BDSRA is called upon frequently by many in the rare sector to talk about 'what works,' because our community is seen as something special.
Click
here to continue reading
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Rare Disease Day is Everyday
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Batten disease was one of the diseases featured on a banner in Times Square on Rare Disease Day. We celebrate that day each year, but we know that each day is special for our families. Batten disease was well represented this year on Capitol Hill, and we look forward to seeing more advocates each year. Please follow this
link to read an overview of this year's conference, as well as what we can do each and every day to continue the advocacy our families need.
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BDSRA Family
Resource Corner
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For this month's Resource Corner we wanted to highlight some of the hard work we have been doing at the office. Over the last year the Ask an Expert Facebook Chats have created great discussion around topics important to the Batten community. The chats have covered a variety of topics from research to best practices in care. One of these recent chats was with Dr. Jon Cooper from UCLA about the basics of genetics and how Batten disease is inherited.
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Disney Princess Run
Thank you to wonderful SIBS who participated in the Disney Princess half marathon or 10K at Walt Disney World on February 25th and 26th. Megan Chandler, Addie Heuchan, Kody Maynard, Mike McDonough, Jeni Montavon and Sara Thompson rallied friends, family and co-workers to join them in their desire to raise money for Batten disease research. They were able to donate over $5,000 to BDSRA.
Monte Carlo Night Rolls the Dice for Research
330 guests joined the Froio family in February for dinner, music, an auction and fun casino games. They graciously donated $10,000 to BDSRA in Melissa Froio's memory.
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