Lifeline Online June 2016 NTSAD Family Newsletter
NATIONAL TAY-SACHS & Allied Diseases Association
Dear Families, NATIONAL TAY-SACHS & allied diseases association
www.NTSAD.org President Brian Manning Executive Vice President Blyth Lord Scientific Advisory Committee Chair Frances Platt, PhD Executive Director Sue Kahn Director of Development Joan Lawrence Director of Family Services Diana Pangonis Conference Coordinator Becky Benson Office Manager Ingrid Miller
Lifeline Online is an electronic publication of NTSAD for families. Information contained in Lifeline is not intended to substitute for professional medical care. Always consult your Physician.
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This issue follows on the heels of what was our biggest conference to date although admittedly later than we hoped. NTSAD is a busy place these days! In any case, we didn’t want to let it go by so here are some highlights: • Three full days of conference sessions with an online mobile app allowing easy access to the schedule and the ability to receive live notifications and handouts. • Lots of Research! From the Research Update session, which was broadcast live to the GM-1 Research Meeting held in conjunction with the conference thanks to a collaboration between NTSAD, Cure GM-1 Foundation and Lysogene. • Camp Snuggle debuted its new Camp format with artwork, music, massage and a Camp group photo • Over 90 families attended • Largest Late Onset group to date with eight researchers and clinicians working with them to advance their foundation of data for future clinical trials It is clear that the conference is a meaningful experience for the entire NTSAD family, researchers, health professionals and the many volunteers who made it all possible. We received terrific feedback and have already begun planning next year’s conference! In the following pages are the highlights of our 38th Annual Family Conference and many images that capture some of the special moments. My thanks to Becky Benson, Risa Asnen and the stellar Conference Committee for all of their hard work and taking the time to make this one of our best conferences! Diana Pangonis Director of Family Services diana@ntsad.org NTSAD Lifeline Online - June 2016
A Facebook Question with Advice from Other Parents When the doctors bring up hospice care, I get super scared. They say it would just be minimal check-in’s unless they felt he required more visits. I know it’s about quality of life. But I just don’t know… We had hospice and loved them! They are great at getting things you need ASAP! Sometimes you are eligible for different things by being on hospice. It doesn’t always mean that the end is near. Our children our terminal, you can ask your local hospice and your pediatrician what the benefits are. I believe each state is different but other parents might be helpful. Hospice is a scary word. It’s hard to think about because of what it’s normally associated with..... but if you needed the extra help they’d be there for you. They do lots of other great things, and it’s one of those care options that get a bad rap. You’ll come up with what you feel is right ☺ We used hospice because it was the best way to get extra services. The word “hospice” can evoke negative feelings because many people equate it to giving up on life. We never felt it was giving up hope. In our case hospice was the best decision we made, having a nurse coming weekly and explaining to me what was going on was amazing, our hospice nurse was a ball of knowledge and loved her sincerely. We would get medica-
NTSAD Lifeline Online - June 2016
Support tions delivered instead of me having to drive to pick them up with 2 little ones and one who needed my care 24/7. Don’t be scared, it’s loving care for his future. It was so wonderful; they provided the brand of diapers we used. They were so so so good. Anything my grandbaby needed they done their best. They were a blessing to us.
Courageous Parents Network is an incredible resource for many aspects of what the NTSAD family is faced with on a day to day basis. Blyth, its founder, writes that the CPN site is about bringing these phenomena to other families who are caring for children with serious illness. It is about providing parents with the skills, tools and virtual support they need to cope and adapt during their child’s illness journey so as to make the impossible possible.
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Research We are proud to announce the 2016 Research Initiative grant awards, after Scientific Advisory Committee and Corporate Advisory Council members participated in the evaluation and consideration of 20 grant applications. NTSAD has now awarded over 50 grants exceeding $3.5 million since the inception of the Research Initiative. The fields of lysosomal storage disease and leukodystrophy research are busy with innovation, industry and hope. Especially in light of the recent news of gene therapy clinical trials starting for other lysosomal storage disorders, we are hopeful that one day we will announce the same news. Stay tuned to the June 2016 issue of NTSAD's Research Review for the synopses of these grants. Rapid Identification of New Biomarkers for the Classification of GM1 and GM2 Gangliosidoses: A HNMR-linked Metabolomics Strategy Principal Investigator: Martin Grootveld, PhD Leicester School of Pharmacy, De Montfort University, UK (one year study) Novel combined gene/cell therapy strategies to provide full rescue of the Sandhoff pathological phenotype Principal Investigator: Angela Gritti, PhD San Raffaele Scientific Institute, San Raffaele Telethon Institute (two year study) Clinically Relevant Outcome Measures for Patients with Late Onset Tay-Sachs disease Ascertained Real-Time Through Patient Wearable Technology Principal Investigator: Cynthia Tifft, MD, PhD NHGRI/NIH (6 month pilot study funded by the Katie & Allie Buryk Research Fund) Identifying Novel Therapeutics for Treating GM2 Gangliosidoses Principal Investigator: Beverly Davidson, PhD Children's Hospital of Philadelphia (one year study) Two other grants were awarded within the last six months: Pre-clinical studies of AAVrh8-Hex gene delivery in Tay-Sachs Principal Investigator: Miguel Sena-Esteves, PhD University of Massachusetts Medical School
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Biomarkers using lipidomics technology Co-Principal Investigators: Doug Martin, PhD & Dan Ory, PhD Auburn University, AL
NTSAD Lifeline Online - June 2016
Research @ NTSAD’s Annual Family Conference In addition to the NTSAD Research Update session, held on April 8th, there was a GM-1 Research Meeting on April 9th. Summaries of the presentations were featured in May 2016 in two separate NTSAD Research Reviews. These can be downloaded here. Both sessions were broadcast live for the first time and can be watched on the NTSAD YouTube channel here. We thank the Mathew Forbes Romer Foundation, Cure GM-1 Foundation and Lysogene for making these sessions possible.
Riding for Research Thank you to our good friends, Allison Bradbury, her husband David, Staci Kallish and her husband Chris Beer, and Heather Edwards for riding with Team NTSAD to raise funds for the Million Dollar Bike Ride in Philadelphia on May 7th. Every dollar will be matched to fund a grant in the field of lysosomal storage or leukodystophy disorders. Stay tuned for the 2017 dates! Plan a trip to Philadelphia or pledge to ride in your own community and let’s double the impact next year!
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Late Onset Summary of Late Onset Data presented by Gerry Cox, PhD, from the NTSAD 2016 Annual Conference Research Update Session • The median age of LOTS patients included in this study is 49 years with a range from 2468 years, 58% were male, 42% were Ashkenazi Jewish, 80% have LOTS, 17% LOS (late onset Sandhoff), 58% have children. • The time from symptom onset to diagnosis was 18 years, 42% required caregiver assistance, 92% need ambulatory assistance and 50% have difficulty with speech articulation. Click on the image to link • BARS score (brief ataxia rating scale) correlated with directly to watch the presentation. disease severity and functional performance testing suggesting that these assessments may be useful outcome measures for monitoring patients. • Follow up testing will be useful for determining sensitivity to change over time. • This information will be helpful in determining outcome measures and therapeutic efficacy in future human clinical trials.
Scott Hunger recently shared the link to this magazine and thought it might be of interest to the group. If you have something you want to share, send an email to diana@ntsad. org to feature in the next issue. Thanks, Scott! Click on the image to connect to the website.
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NTSAD Lifeline Online - June 2016
Siblings Earlier this spring, proud mom, Kim Pokroy, shared a personal essay her daughter, Samantha, wrote for her English class, about her brother, Daniel, who had Tay-Sachs. Thank you, Samantha, for sharing the ways Daniel has impacted your life even though you never met him. Before I was born, and before my older brother, Zack, was born, my parents gave birth to their first born; his name was Daniel. What they didn’t know about him was that he had a genetic terminal disease, Tay-Sachs, that would cause him to die within two short years of living. Some people have trouble understanding why Daniel’s death has such an effect on me if I never got to meet him. I don’t like to discuss my brother’s death with others, especially my friends...I’m not keen on discussing Daniel with my friends is because although some of them tend to apologize in sympathy, I think most of the kids my age aren’t able to truly comprehend the reason of why his death [affects my family].
The Jeffrey Alan Gottlieb and Stanley N. Gottlieb Memorial Scholarships for Rare Siblings Who is eligible to apply? NTSAD siblings of traditional college age. It is available to freshman, sophomore, junior and senior students attending an accredited college or university part-time or full-time with the upcoming 20162017 academic year. Click here to download the 2016 Gottlieb Scholarship Application.
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September 17, 2016 What is Day of Hope? A day dedicated to raising funds for research. It is the third Saturday in September but can be observed any day during the year. Think of Hands Across America but for the Tay-Sachs, GM-1, Sandhoff, and Canavan community. What can you do? Anything you want. It can be as simple as a pitcher of lemonade, neighborhood yard sale, spaghetti dinner to as big as a poker ride or walk/run. How can NTSAD help? We give you your own donation page to share with your family and friends. We will send you customized brochures to hand out to raise awareness, and a few other fun give-aways that will remind people who we are and how important research is to our families! How do I get started? Feel free to call or email Joan, our Director of Development, or post ideas on the Day of Hope Facebook page. We can set up a page right away for you to share and update it as your event develops.
$168,298 10
raised for research
since 2011 by day of hope NTSAD Lifeline Online - June 2016
Events September 24, 2016 Candyland Party Cousino Family, Gibsonburg, OH
September 27, 2016 ‘Fore’ Jack Memorial Golf Outing Kliger Family Locust Valley, NY
August 20, 2016 Bloops for Brooke Blooperball Tournament November 10, 2016 Urban Family, Bay City, MI
Imagine & Believe Boston Benefit
September 17, 2016 Bolton/Pounds Yard Sale & Annabel’s Joyful Life t-shirts Bolton/Pounds, Murfreesboro, TN
Save
honoring Karen Aiach, Founder & CEO of Lysogene
Royal Sonesta Hotel Cambridge, MA
the
Date!
NTSAD 39th Annual Family Conference Thursday, March 30th to Sunday, April 2, 2017 Dallas/Addison Marriott Quorum by the Galleria Dallas, Texas
NTSAD Lifeline Online - June 2016
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In memory Our NTSAD Family has had to say goodbye to too many loved ones recently. Please take a moment, read their names aloud and hug those you hold dear in their honor.
Jaxson Reish
Received his wings on June 15, 2016
Malachi Robinson
Received his wings on April 13, 2016
Dalya Altinkaynak
Received her wings on June 15, 2016
Russell Goldstein
Received his wings on March 26, 2016
Lily Serrano
Received her wings on March 3, 2016
Sara Nugent
Received her wings on April 26, 2016
Jacob Jones
Received his wings on March 24, 2016
Madilyn Rose
Received her wings on February 19, 2016
Rayan Chouirita
Received his wings on April 23, 2016
Brennan Stringer
Received his wings on March 4, 2016
Annabel Pounds
Received her wings on February 17, 2016