Lifeline Online Nov/Dec 2015

Lifeline Online November/December 2015 NTSAD Family Newsletter

Dear Families, national tay-sachs

& allied diseases association

www.NTSAD.org

Each month, one of the top clinical genetics journals publishes a series called “Genetic Legacy” in which a senior geneticist writes a short piece describing their career path in genetics. This month’s “Genetic Legacy” has me thinking about my own “genetic legacy.” Much of this remains to be determined, but my legacy without a doubt, begins with NTSAD. Learning about genetics from my parents, who were found to be Tay-Sachs carriers by community screening in the 1970s, made me excited to learn more. Learning about children and adults with allied diseases and the experiences of their families inspired me towards a career in clinical genetics, so I could care for individuals and their families affected by genetic diseases.

President Brian Manning

The end of any year is a time of retrospection and in addition to my “path,” I have also been thinking about NTSAD’s legacy.

Executive Vice President Blyth Lord

• NTSAD’s roots are in education and awareness. NTSAD advocates for advances in carrier screening, not just for Tay-Sachs disease in high-risk populations, but for many diseases in all people. NTSAD’s legacy includes 40+ year quality control program that ensures accurate enzyme analysis for TaySachs disease. NTSAD provides education to many people every year, including healthcare providers, on how to appropriately order carrier testing for all allied diseases.

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 Alison Perkus Development Associate

Lifeline Online is a 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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• NTSAD’s legacy in supporting research also dates to the beginning of the organization. I am thankful for the early Tay-Sachs research, supported by NTSAD, that has allowed so many families (like my own) to know their risks and have healthy children like me.

• Equally as important is NTSAD’s legacy in supporting families. I remember NTSAD providing calling cards to families so they could connect long-distance by telephone in the pre-internet days! Since NTSAD’s creation, families from around the world have participated in 37 annual family conferences (with the 38th scheduled for April 2016). NTSAD also supports families by providing educational materials that can be shared with healthcare providers, shipping equipment from one family to another, and in so many other ways.

I am proud of NTSAD’s legacy and proud to play a role as a member of the Board of Directors and Chair of the Research Initiative Committee.

As one year ends, a new year always begins.

I look forward to 2016 and all it has in store for you, for me, and for NTSAD. Happy New Year!

Staci

Staci Kallish, DO NTSAD Board of Directors, Chair of the Research Initiative Committee Clinical Geneticist

NTSAD Lifeline Online - November/December 2015

Support Watch and Share This Opportunity with Your Care Team Courageous Parents Network (CPN) announced a new FREE CME course in Advanced Care Planning and Palliative Care in Pediatrics, produced by Massachusetts General Hospital in association with Courageous Parents Network.

Blyth, founder of CPN, suggests parents go through it themselves as a means of empowering themselves to work with their child’s doctors and care team to set care goals and make plans for their child’s care all the way through their child’s life.

This interactive activity explores the role of pediatric palliative care and advance care planning when working with children with serious illness. Specific tools are provided to empower the clinician to initiate difficult discussions with patients and their families, aid the family in advance care planning, and support the family in the event the child dies.

The one hour course consists of four sections: • • • •

What is Pediatric Palliative Care Advanced Care Planning Initiating Difficult Conversations Transitioning to End-of-Life/Bereavement

Central to each section are parent voices and perspectives, presented via Courageous Parents Network videos featuring three differt family stories.

Register here at no cost.

LEARNING OBJECTIVES Describe the role of pediatric palliative care in pediatric end of life care Select patients who would benefit from palliative care and describe the available resources Demonstrate an increased ability to initiate and discuss end of life issues with patients and their families ACCREDITATION Partners HealthCare System is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

Partners HealthCare System designates this enduring material activity for a maximum of 1 AMA PRA Category 1 Credit. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Credit: Drs. Pat O'Malley and Ben Nelson, Sandy Clancy, and the Schuster, Siedman and Skelley families.

NTSAD Lifeline Online - November/December 2015

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Support A Facebook Question with Advice from Other Parents How do you know your child is in pain?

My children cry or tighten up.

Once he lost the ability to communicate, seizure activity was a one way to tell.

Check their heart rate on the pulse ox machine.

If you know their “no stress” heart rate and if it’s elevated that may indicate they’re uncomfortable.

Faster breathing, nasal flaring or retraction at the neck may be a sign.

SHARE WHAT WORKS FOR YOUR FAMILY! Is there something special you do with your child or loved one that helps ease the stress of their disease? Send Diana at diana@ntsad. org what you do along with a picture to be featured in a future issue of “Lifeline!”

Occasionally he would cry or make sounds like he was uncomfortable.

Symbolic Mourning

by Rebecca Chappell (an excerpt borrowed from Becky Benson’s blog, Three Short Years) I wanted something to represent my grief, to remind me of the special bond between Colby and I and give me the opportunity to talk about my son all at the same time. My first thought was a tattoo, but depending on where it is placed it wouldn’t be as visual as I had in mind. Some people are able to wear or carry something that belonged to their loved one, but Colby didn’t have a lot of things that could be used for this purpose. I also researched different types of jewelry but nothing really fit my image of what I wanted. So I decided to put together my own bracelet, which itself ended up being a therapeutic process. I wanted it to be mainly black as a traditional representation of mourning, so I purchased some black beads and a black ribbon to string them all. Next I found charms that would remind me of him; a heart, a prayer charm, a dragonfly, the first letter of his name, his birthstone, and finally a tiny frame for his photo.

Creating my mourning bracelet has had the desired effect for me. I am proud to wear it. It is my outward symbol that while my life may have changed, Colby is not forgotten. The beads softly click together as I move my arm, quietly paying tribute to my angel son as I go about my day. More than one person has mentioned that it is beautiful, and one mother, who had also lost a child, even said she would buy one from me it I wanted to start making them. The void he left is still enormous but the heavy feeling that I am not doing enough to remember him has been lifted and no matter where I am I can look down on my wrist and see him smiling back up at me.

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NTSAD Lifeline Online - November/December 2015

News NTSAD Scientific Advisory Committee member, Paola Leone, PhD from Rowan University, had the honor to be granted an audience with Pope Francis in Vatican City in November. Here are excerpts from the story featured in the Courier-Post:

Excerpt from Courier-Post, Dec 14, 2015

Leone and three families she works with were given passes to attend an audience with the pope. They were at his feet, with no security barriers between them and with thousands of people behind them, Leone recalled.

After Pope Francis delivered the apostolic blessing, “this light, this human light, came to us,” Leone said.

“His simplicity, words of love and blessing … it was one of the most touching moments of my life.”

The mother of a 14-year-old that Leone diagnosed with [Canavan] disease fell at the pope’s feet and cried, Leone said. The Holy Father hugged and kissed each child.

You can read the full article here.

2016 Rare Disease Week on Capitol Hill Schedule Monday, February 29th: Rare Disease Day at the NIH

Your voice on behalf of all the children and adults affected by our family of diseases is critical.

Rare Disease Week in Washington, DC the week of February 29 to March 3, 2016 "brings rare disease community members from across the country together to be educated on federal legislative issues, meet other advocates, and share their unique stories with legislators."

Our friends at the EveryLife Foundation and the RDLA are offering travel stipends to help you attend. Applications are due December 31st.

Click here for more information.

Monday, February 29th: Rare Disease Documentary Screening & Cocktail Reception Tuesday, March 1st: Legislative Conference at FHI 360 Wednesday, March 2nd: Lobby Day Breakfast & Hill Meetings Thursday, March 3rd: Congressional Caucus Briefing Thursday, March 3rd: Rare Artist Reception

NTSAD Lifeline Online - November/December 2015

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Kids’ Korner not just for siblings but for cousins, too!

Congratulations to this year’s Jeffrey Alan Gottlieb and Stanley N. Gottlieb Memorial Scholarship recipients!

Samie DuVall Big sister to Nickolas who had Tay-Sachs Junior, Morningside College Jessica Epstein Big sister to Rachel who has Canavan Freshman, University of Massachusetts-Dartmouth Justin Ungerleider Big brother to Evan who had Tay-Sachs Freshman, Lafayette College Andrea Whiteman Little sister to Kelly who had Tay-Sachs Senior, Oregon State University

A terrific resource for parents and siblings thanks to our partners, Courageous Parents Network and Genzyme, a Sanofi company.

The deadline for scholarship applications for the 20162017 school year will be August 15, 2016. Siblings who are incoming freshman and students in college/ university are eligible to apply.

www.raresiblingsproject.org

Getting to Know...Amelia!

Amelia is almost six years old and the proud older sister to Annabel who just turned three. Annabel has Tay-Sachs.

We asked Amelia what would be her perfect day and she sent us a video explaining her drawing of her ideal day.

Thanks, Amelia!

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NTSAD Lifeline Online - November/December 2015

Conference 2016 38th NTSAD Annual Family Conference Thursday, April 7 to Sunday, April 10, 2016 Rosen Shingle Creek * Orlando, FL

REGISTRATION IS NOW OPEN! Registration Fees and Openings The registration fee is $315 for adults, and $125 for children eating meals. All affected children who do not eat from the buffet are charged no registration fee.

You can register online as well, unless you plan to submit a Helping Hand Grant application.

Register here until the deadline of March 9, 2016.

Hotel Rate and Parking The guestroom rate for rooms booked within NTSAD’s room block will be $150.00 plus tax of $18.75. All NTSAD guests will be able to use the complimentary guest parking, based on availability.

Extra!

Extra!

Your vendors, suppliers, agencies and doctor’s office will be able to place an ad in the conference book this year!

The NTSAD office can send out the requests with information about our small but mighty family. Send Bonnie Davis your information at bonniedavis@226@gmail.com the contact information and addresses for the businesses you think would want to place an ad in our conference book this year.

The NTSAD office will do the rest!

HELPING HAND GRANT APPLICATIONS ARE AVAILABLE. Applications will be available to submit from January 1 to January 31, 2016. Awards will be made by midFebruary 2016. Only requests from newly diagnosed or newly bereaved families will be considered after January 31, 2016.

Please keep in mind the following criteria: ALL families are eligible to receive a Helping Hand Grant based on the limited availability of funds and the following priorities, in order: • Newly diagnosed families and individuals who are new to NTSAD since the last Conference; • Families and individuals who are newly bereaved within the past year; • Families and individuals who have not previously attended an annual conference; • Families and individuals who actively raise funds for NTSAD and the Helping Hand Grant Fund; • Families and individuals who are actively engaged as NTSAD volunteers throughout the year.

NTSAD Lifeline Online - November/December 2015

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Late Onset Support Transition QuickGuide: Take Charge of Your Planning and Managing Your Own Health & Career Goals The NTSAD office has a new handout reprinted from an alliance with the Youth Transitions Collaborative, Got Transition/Center for Health Care Transition Improvement, and the U.S. Department of Labor’s Office of Disability Employment Policy. Each section lists resources that can be helpful to a specific topic.

To get a copy, contact Diana at diana@ntsad.org. Here are the highlights of what is covered in this resource: Health Insurance Coverage It pays for provider services, medications, hospital care, and special equipment when you’re sick. It is also important when you’re not sick. Insurance coverage includes preventative health services, immunizations, mental health services, and more.

Self-Care Involves actions you take to care for your physical and mental health. These include learning about your medical conditions, how often you need to take your medications, and how to make your appointments.

Health Care Transition This is the purposeful, planned movement of adolescents and young adults from child-centered to adult-centered medical care.

Decision-Making This is a skill that requires practice and a variety of experiences. Having this skill will allow you to choose the best course of action to take care of your health and well-being in partnership with your health care providers.

Career Planning and Management This involves acquiring the job search skills needed to secure employment in a chose career path, and to maximize your employability across the life span. It also involves the continued development of career readiness skills and the traits, work habits, and behaviors associated with a lifelong commitment to seeking new opportunities for gaining skills and experiences.

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NTSAD Lifeline Online - November/December 2015

Cooking...How It Helps Me

by John Pollman I've always loved cooking, but shortly after being diagnosed with LOTS, I went into a very deep funk. I knew nothing about the disease and I was terrified. I had to find a way to get my mind off off Tay-Sachs. I turned to cooking. It worked wonderfully! I started looking for recipes that sounded good and tried them. I then started modifying existing recipes to suit my needs and that was fun too. I had several people tell me that I should do a Facebook blog. At that point I started one and it has been fun too. It's a place for people to share cooking tips and recipes.

If you're interested in joining, search Facebook for “Let's Get Cookin’'” and you'll find it. Send a request and I'll add you.

Cooking has been a great way for me to take my mind off of Tay-Sachs and ENJOY life again!

Join the Late Onset Facebook Group.

One of John’s winter soups

Late Onset Tay-Sachs a closed group www.facebook.com

What do I need to know about Career Planning & Management?

Understanding the role of your health when thinking about your career plans will help set you up for a successful transition into adulthood.

• It’s good to have a variety of paid and upaid work-based learning experiences, including part-time or summer jobs, community service, volunteer work, etc. Having these experiences can help you learn about the types of careers that most interest you and about how to manage your health and/or need for reasonable accomodation in different employment situations.

• Telling someone you have a disability is a very personal decision. Knowing how and when disclosure will be most effective is something that takes thought and practice.

• A great way to start your search for paid or unpaid work-based learning experience is to ask your friends and family if they know about opportunities that match your interests and will help you prepare for your dream career.

• Everyone can work, if they have the right supports in place.

NTSAD Lifeline Online - November/December 2015

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Research Update Tay-Sachs Gene Therapy Consortium Update We have received a report from Miguel Sena-Esteves, PhD, for the project initiated at the University of Massachusetts Medical Center in October 2013, “Selection of a new AAVrh8 vector design and safety testing.” The report is confidential because the data has not yet been published. Therefore, we are sharing a few of the highlights of the report.

In January, 2015, we reported on the project’s Milestone 2 achievement which was identifying a safe vector design for clinical translation. Mouse studies were then performed to demonstrate that this new vector could be as effective as the original vector.

Tom Seyfried (BC), Sophia Pesotchinsky, Miguel Establishing a sufficiently large colony to support efficacy studies Sena-Esteves (UMASS), Doug & Susan Martin (Auburn) at NTSAD’s Boston benefit in November. took over five months. The results are that they observed a significant reduction in GM2 levels at a higher dose with the new vector, which is comparable to the reduction documented in GM2 mice injected with the original vector formulation. They also observed reduction in other areas of the CNS, however not as much as with the original formulation.

These preliminary therapeutic efficacy studies using the new and proven safe vectors in GM2 mice are encouraging. The next phase of research is also called the IND-enabling studies because these studies are planned to hopefully lead to an Investigational New Drug application (IND) to the FDA followed by clinical trials.

These studies include animal studies in GM2 mice for toxicity and efficacy, and a final study in a large animal species to assess that the higher doses in the therapeutic range in GM2 mice, scaled for brain weight, are safe, and therefore safe for testing in patients.

NTSAD’s Plans for Funding Research in 2016 A letter went out from Blyth Lord (mom, founder of Courageous Parents Network and Vice President of NTSAD’s board) and Brian Manning (dad and President of NTSAD’s board). Here is an excerpt related to NTSAD funding research in 2016: $160,000 will fund at least two grants as part of NTSAD’s annual Request for Proposal (RFP) process, which was just announced. Scientists, senior and early stage career alike, count on these RFPs from patient groups, and are often drawn to researching our rare diseases as a result. We need to keep our diseases in front of them. $240,000 is committed to the Tay-Sachs Gene Therapy Consortium. Of this total, $130,000 will be directed to making the final payment to University of Massachusetts Medical Center for additional studies to optimize the new vector in the mouse model. The rest will be directed to the new IND-enabling studies (which have a total cost of $1 million). Specifically, we are proud to provide a grant award for GM2 mouse studies which are budgeted at $93,000, and the balance toward the regulatory consultant, Phil J. Cross and Associates, who will shepherd the scientists through all the regulatory requirements. It is possible that we may be able to commit more funds over the course of this next phase, as our fundraising efforts allow.

To date, NTSAD has funded $1.5 million of the total $2.0 million in private funding to the TSGT Consortium.

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NTSAD Lifeline Online - November/December 2015

Second Annual Million Dollar Bike Ride A New Grant Award Announced NTSAD would like to congratulate Dr. Marlene Jacobson, awardee of the 2015 Million Dollar Bike Ride grant made on behalf of Team NTSAD for her proposal entitled “PatientDerived Phenotypic Assay to Discover Treatments for Tay-Sachs Disease.”

Dr. Jacobson is Associate Professor in the Department of Pharmaceutical Sciences, Temple University School of Pharmacy and Associate Director of the Moulder Center for Drug Discovery Research. Prior to joining Temple in 2012, Dr. Jacobson spent 24 years in pharmaceutical drug discovery and preclinical development at Merck Research Labs focused on discovery of small molecule therapies for neurological diseases and development of technologies to enable high throughput screening. Dr. Jacobson’s current research interests include identification of treatments for neuropathic lysosomal storage disorders and application of novel screening assay methodologies for drug discovery.

Specifically for this project funded by NTSAD and the Orphan Disease Center, Dr. Jacobson will use cells from Tay-Sachs patients to screen a collection of small molecules that could serve as treatment for this and other lysosomal storage disorders. Dr. Jacobson has developed a novel “disease in a dish” assay which will enable exploration of small molecules including a collection of known FDA-approved drugs in which a “hit” has the potential for rapid progression into clinical trials. The research will be performed in a fully integrated academic drug discovery center, The Moulder Center for Drug Discovery Research (http://moulder.temple.edu/), composed of investigators with extensive experience in pre-clinical drug discovery and an established infrastructure to support high throughput screening, in vitro pharmacology, medicinal chemistry, and preclinical drug metabolism studies “We are excited to receive this award and wish to extend our gratitude to Team NTSAD for raising the funding to support the award.” – Dr. Marlene Jacobson.

NTSAD’s Plans for Funding Research in 2016 cont’d from page 10

This funding is possible thanks to gifts from family foundations, including the Cameron & Hayden Lord Foundation, the Mathew Forbes Romer Foundation, the former NTSAD New York Area chapter and its family funds, the Cure Tay-Sachs Foundation, Day of Hope events, and, of course, many individual NTSAD families and other donors.

We are proud of the research we have funded, and we hope that you are too. With you, we have directed over $3 million to research on Tay-Sachs and other diseases that affect our families. As evidenced by attendance and remarks at our annual Gala, Imagine & Believe, earlier this month, NTSAD’s reputation with industry is unparalleled in the patient disease world. We are known for the passion and courage of our families, the integrity of our leadership, the tenacity of our researchers, and the intelligence of our process. Such a reputation is as critical to research as the funding dollars themselves.

Our research goal for the next year+ is to continue to harness our reputation, grant money, staff, Board and partners to make meaningful, hopefully ground-breaking strides forward.

Onwards!

Blyth and Brian NTSAD Lifeline Online - November/December 2015

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In memory Some of our NTSAD Family has had to recently say goodbye to their loved ones.

Please take a moment, read their names aloud and hug those you hold dear in their honor.

Debra Cicchelli

Received her wings on April 2, 2015

Kenneth Wagner

Received his wings on November 25, 2015

Noah Leos

Ezra Martinez

Received his wings on November 1, 2015

Received his wings on November 20, 2015

Hugo

Marci Ordog

Received his wings on November 20, 2015

Received her wings on November 28, 2015

Make music with what remains.

Complete the song left for us to sing, Transcend the loss, Play it out with heart, soul and might

Violet Stephen

Received her wings on December 3, 2015

Rohan Carter

Received his wings on December 4, 2015

With all remaining strength within us.

- Rabbi Harold M. Schulweis