March 2016                                                                                                                     Volume 27, Issue 3
In This Issue
SIBS Art Corner
Congratulations to Mara Timko, last month's SIBS Art Corner winner.  Mara wins a $15 iTunes gift card.

We want to share the artwork created by our fantastic sibs each month in the newsletter. April is family portrait month. Whether it's crayon, paint or any other medium, we want to see it.  Please use 8 1/2 by 11 paper, and send them to the office by April 20th: 1175 Dublin Rd, Columbus OH 43215.


Mara Timko


BDSRA Family
Resource Corner
Air Transportation Program Helps Families Obtain 
Expert Care
 
Families facing a diagnosis of Batten disease often need to travel to obtain expert medical consultation and care for their loved one.  One resource that may be helpful is Miracle Flights. 

Miracle Flights is a non-profit organization headquartered in Las Vegas Nevada, whose mission is to "improve access to health care by providing financial assistance to low income children for commercial air travel."  


In Loving Memory
Donor Gifts

The Batten Disease Support and Research Association has been remembered many times in the past month by families and friends affected by Batten disease.
 
BDSRA Annual Family
Conference Registration

Hotel reservations are now  being accepted by the  Renaissance St. Louis  Airport Hotel, site of this  year's Batten family  conference, July 14-17. 
 
To reserve your room 
please visit

Online conference registration is available here http://bit.ly/1Qyu5xv

 


CLN2 Enzyme Replacement
Results Announced
Dr. Angela Schulz
The Lysosomal Disease Network WORLD Symposium was held in San Diego Feb. 29th to 
March 4th,    and brought Batten disease researchers to the fore with dynamic talks presented in front of hundreds of clinicians, researchers and industry leaders.  Dr. Angela Schulz of the University of Hamburg gave a much-anticipated summary of the CLN2 enzyme replacement therapy trial ongoing in London, Rome, Hamburg and Columbus, Ohio. Continue reading 


More from WORLD 2016 in 
CLN3 Juvenile Research
Dr. Tammy Kielian

Dr. Tammy Kielian from the University of Nebraska  reported results of her pre-clinical work that is leading to gene therapy trials : "Adeno-associated virus 9 gene therapy for juvenile neuronal ceroid lipofuscinosis."  Conclusions about her work in mice receiving gene therapy vectors was that the modified genes were well tolerated and spread throughout the central nervous system.  Mice given gene therapy showed improvement motor function as well.  Her promising work is being carried forward by Abeona Therapeutics.  We look forward to hearing more about this trial in the coming months.



BDSRA Promotes Role of Patient Advocacy in Research 
and Drug Development

Margie Frazier, BDSRA's executive director, served on a panel at the WORLD Symposium with her talk: "The Critical Role of Early Recognition of CLN2 Disease: The Family Perspective."  She, with Drs. Schulz from the University of Hamburg and Paul Gissen, of Great Ormond Street Hospital in London, discussed the need for earlier diagnosis in Batten disease.  Margie was grateful to share stories and photos of Batten families who had given their blessing to provide details about their often arduous process of having their children diagnosed.   
Later in the week, Margie and her colleague, Andrea West, CEO of the Batten Disease Family Association in the UK, spoke with over 200 employees of BioMarin Pharmaceutical, Inc. at a "lunch and learn" about the family experience.  Feedback from both events was very positive and many were grateful that family stories help data 'come alive.'  


Batten Disease Advocates Visit Capitol Hill During Rare Disease Week
Tracy Kirby, BDSRA's Director of Development, joined our Batten families and over 350 other advocates representing 130 organizations during Rare Disease Week on Capitol Hill from February 29th through March 3rd.

Lobby Day was full of meetings with members of Congress and their to raise awareness and advocate for the legislation we all need.  

Thank you to Nancy and Joe Coyne, Marlo Dean and Dante Herrera, and Cheri Whobrey for helping spread awareness.

Dante Herrera, Cheri Whobrey and Marlo Dean






Quick Links
BDSRA Member
 of the Month
Sandra Hofmann, M.D., Ph.D., Batten disease researcher and member of the BDSRA Medical and Scientific Advisory Board explains why membership matters to her.


Show Your Strength,
Become a BDSRA Member 
Why Join BDSRA? Because membership is a vital link to others
facing Batten disease, and membership strength is a leading indicator to policy makers and industry that Batten disease deserves attention, support and funding. Click here to join today!

Fundraisers
Full House of Hope Casino Night

Gregg Froio and Tony Ferrnadino
Tony and Katie Ferrandino attended The Melissa Froio Foundation's Casino night last year, and decided they wanted to organize a similar event this year.  As a result, Drew's Hope hosted their first casino night in Richboro, PA in February, and it was a great success!  Over 300 attendees enjoyed an auction, dinner and of course the casino games. Proceeds from the evening were donated to BDSRA for research in memory of Drew Ferrandino.
Monte Carlo Night

The Heuchan and Ferrandino families
The Melissa Froio Foundation hosted their 6th Annual Road to Monte Carlo Night in February, and everyone was a winner! Thanks to the generosity of all the attendees, $10,000 was donated to BDSRA for research in memory of Melissa Froio.  

Northern California Families Meet!
Walnut Creek in San Francisco's East Bay was a great place to see the Sharp, Allio and Youngs families for a BDSRA Meet-Up on March 5 th.  Margie Frazier and BDFA's Andrea West had a good opportunity to hear family views, and enjoy time socializing with a wonderful and committed group.  Thank you to Tullio's Restaurant for a wonderful lunch and kind service.
 

Batten Disease Support and Research Association | (614) 973-6013 | tkirby@bdsra.org | http://www.bdsra.org
1175 Dublin Road
Columbus, OH 43215