National Tay-Sachs &
Allied Diseases Association, Inc.

Keeping Up with NTSAD
a monthly e-newsletter
February 2015 - In This Issue:
TOGETHER.
We can make a difference.
RARE DISEASE DAY * February 28, 2015

NTSAD families are marking the day by changing their profile pictures to show that they 
"Love Someone Rare." 
Honoring Those Living with Rare Diseases
Families and individuals worldwide will be commemorating the Eighth Annual Rare Disease Day on Saturday, February 28th. It's a day for the rare disease community to bring attention to their struggles and needs on a daily basis. It is meant to gain the attention of decision-makers as they vote on policies and bills that ultimately affect how families navigate an often complicated world of healthcare and benefits. 

Every year there are opportunities for families to go to Capitol Hill the week leading up to Rare Disease Day as well as the chance to share their stories. This year a mother, who lost her daughter to Tay-Sachs in 1971, shared her story with the Rare Disease Legislative Advocates (RDLA)

"I have learned that until someone actually lives an experience, they do not really understand its impact.  I also believe everyone is definitely entitled to a personal opinion, but it is only the people who have walked the walk who can fully understand why a decision is made."

To learn more about the day, visit www.rarediseaseday.org.

FAMILY SUPPORT

NTSAD Family Conference 2015

The Annual Family Conference is the highlight of the year for NTSAD's families. The conference will be held this year at the Hyatt Regency in Reston, Virginia from Thursday, April 16th to Sunday, April 19th. Sessions give families and individuals the tools to care for their loved ones, themselves and the opportunity to connect with others. It is the one time of year where they can feel "normal;" and that includes the healthy siblings, many of whom have grown up together. 

See what it means to families here.

Be a Part of the Conference!
A gift of sponsorship is a wonderful way to support the conference experience, the families, their children and the adults affected by these rare genetic diseases. The opportunities range from underwriting a particular session to either sponsoring an entire meal or simply a table. All sponsors are recognized in conference materials, NTSAD's website and at meals. To learn more, visit the NTSAD Sponsor Hope page here, or, contact Joan Lawrence, Director of Development, at joan@ntsad.org.

[The conference] is the one place I look forward to going every year 
where I can be with my family and it's OK to laugh and cry at the same time - 
where I don't have to say anything, everyone knows and 
understands exactly how I'm feeling.


CATS Foundation's New Resource for Families
NTSAD's friends in the UK developed a unique eAcademy app for families coping with Tay-Sachs and Sandhoff diseases. This project was funded by a grant award by Genzyme - a Sanofi company through their Patient Advocacy Leadership program. 

It was launched before Rare Disease Day and we congratulate them on a job well done! We look forward to supporting their efforts as the eAcademy app evolves in the months to come.

To learn more about the app, visit here.
RESEARCH

Advocate Excited about Lysogene-Academic Collaboration for GM1 Gangliosidosis
An Encouraging Collaboration
French company, Lysogene, announced their collaboration last week with University of Massachusetts Medical School and Auburn University to help develop IND-supporting pre-clinical studies needed for GM1 Gene Therapy. Read more about the full press release here.

Hear what NTSAD Executive Director, Sue Kahn, had to say about this hopeful collaboration with Lysogene in a Rare Disease Report interview here.

11th Annual WORLD Symposium
The Lysosomal Disease Network (LDN) held their 11th Annual WORLD meeting in Orlando,Florida the week of February 9th. NTSAD was well represented with NTSAD Board and Scientific Advisory Committee members in attendance. As Staci Kallish wrote in her summary, "The news that came out of the meeting was encouraging and truly offers hope for the future." Read last week's Research Review here and learn what highlights showed the promise of a brighter future for families and individuals worldwide.

NTSAD to Host Science Symposium
Co-chairs: Cynthia Tifft, MD, PhD, Director of Pediatrics, NIH and
Fran Platt, PhD, Professor of Biochemistry and Pharmacology, Oxford University

A science symposium for researchers and healthcare professionals will be hosted by NTSAD on April 16, 2015 at the Hyatt Regency Hotel in Reston, VA. Our goal this year is to bring together researchers and healthcare professionals to discuss a number of topics related to the lysosomal storage and leukodystrophy diseases, and incorporate workshops that address key issues in gene therapy, small molecules for CNS diseases, newborn screening, and clinical trial readiness. For more information please contact Sue Kahn, Executive Director, at skahn@ntsad.org.

Second Annual Million Dollar Bike Ride to Benefit Research
The Center of Orphan Disease Research at the University of Pennsylvania's Medical Schoolwill host their Second Annual Million Dollar Bike Ride on May 9, 2015. Team NTSAD and others collectively raised over $1 million dollars last year. Team NTSAD's efforts led to a $35,000 grant awarded to Annette Bley, PhD to work on a Canavan diseases natural history study! If you want to ride for Team NTSAD this year, contact Team Captain, Allison at allisonbradbury@gmail.com.
AND THE MOST CREATIVE FUNDRAISING 
AWARD GOES TO...
 
Meet Xavier. He lives in Canada. He is now 4 years old and has Sandhoff disease. He loves his pre-school and his family keeps him entertained and exceptionally loved. In fact, his dad, Lucanor, decided to launch a fundraiser with the end result being a haircut. While the gifts of support come in so do suggestions for how he should cut his hair.
To date he has raised over $3,500 for NTSAD and plans to cut his hair Saturday on Rare Disease Day. Stay tuned for an update on whether he went for a mohawk, mullet or the Justin Bieber cut! Get a sneak peek and visit Xavier's page on Facebook here.

Gifts in honor of Xavier and Lucanor's haircut can be 
made here.
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                                      NATIONAL TAY-SACHS

Sue Kahn, Executive Director (skahn@ntsad.org)                          & Allied Diseases Association, Inc.

Joan Lawrence, Development Director (joan@ntsad.org)                                 2001 Beacon St - #204

Ingrid Miller, Office Manager (ingrid@ntsad.org)                                                   Boston, MA 02135

Diana Pangonis, Family Services/Communications Manager (diana@ntsad.org)           (617) 277-4463

Becky Benson, Conference Coordinator (becky@ntsad.org)                                     www.NTSAD.org

 

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National Tay-Sachs & Allied Diseases Association | 2001 Beacon Street, #204 | Boston | MA | 02135