September 2016 Lifeline Online

Lifeline Online September 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 Emily Randall Development Associate 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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It’s been a busy summer with lots of activities being planned for the fall and into 2017!

First up - the Sixth Annual Day of Hope continues to raise funds for NTSAD’s Research Initiative Fund which provides grants to research projects worldwide. Did you know that since 2002, when the Research Initiative was established, over 50 grants have led to over $10 million dollars going toward research for Tay-Sachs, GM1, Sandhoff and Canavan?

Next - we are excited to honor the founder of Lysogene, Karen Aiach, at our November 10th Imagine & Believe Boston Benefit. Her work to find an effective treatment for not only Sanfilippo and GM1 but other rare diseases is inspiring.

As you all have seen, we are in the midst of planning the 2017 Annual Family Conference which will be held at the Dallas/Addison Marriott Quorum by the Galleria from Thursday, March 30 to Sunday, April 2nd. Stay tuned to Facebook and our emails for more information on registration, hotel reservations, and Helping Hand Grants. Only seven more months!!!

And, finally 2017 will be NTSAD’s 60th Anniversary…we’re making plans to commemorate this milestone for us so keep your eyes and ears open for more news.

In closing, I’d like to announce here that I’ll be hosting “Office Hours” on Skype once a week on Fridays so whoever wants to “stop in” and say hello, ask questions or simply to talk, please feel free. I’d love to see you and hear how you’re doing. I’ll post a link to the “room” a few minutes before “my office” opens. Hope to see you soon!

Diana Pangonis Director of Family Services diana@ntsad.org NTSAD Lifeline Online - September 2016

A Facebook Question with Advice from Other Parents

Support

Flu season is fast approaching and the question whether to vaccine or not has come up. What do you all do?

• It’s true that sometimes we can’t stop the common cold, or even other sickness form affecting us, but the flu we can. We always gave [the] flu mist. The vaccine isn’t foolproof-some strains may not be covered, but I figured that anything to help her have an easier time was worth a shot at keeping her a little healthier.

• What we did to avoid the fever and seizing is stack Motrin and Tylenol the day of and 48 hours after he had his vaccinations.

This prevented a fever which also prevented seizing. [The] pediatrician felt this was the lesser of the evils, she said if [he] got the flu without being vaccinated it would be a serious situation.

• [Our daughter] got her flu shot last week. If I understand correctly, most people react to the preservatives and not the vaccine itself.

We asked for preservative free and they were available. [She] seemed fine afterwards. We give her Tylenol for 24 hours after just in case.

• We have a rule in our house. No one is allowed in our home without flu and pertussis vaccines. We have said goodbye to nurses we adored because they did not vaccinate.

Some of our family members do not and they cannot come over once cold and flu season begins. We vaccinate everyone who is eligible in our house.

NTSAD Lifeline Online - September 2016

It is critical to ensure timely vaccination of children at increased risk of complications from influenza, including those younger than 5 years and their household contacts, and children with chronic underlying medical conditions (chronic cardiopulmonary disease, neurologic or neurodevelopmental disorders, immune suppression and metabolic disease).

Otherwise healthy children also need to be vaccinated, as they too experience important morbidity and mortality from influenza. During the 2015-’16 influenza season, 49% of children hospitalized with influenza had no recorded underlying medical condition, and nearly 60% of the reported pediatric deaths occurred in children with no underlying conditions.

American Academy of Pediatrics September 6, 2016 Recommedations

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Support Back to School Here is an excerpt from Bo’s Place “Healing Hearts” newsletter (August 2016) which may be helpful at the beginning of the school year whether you’re grieving or coping with a new diagnosis.

For many kids, the first day of school is wrought with a combination of excitement and anxiety. But for those who have recently lost a loved one, starting a new school year may bring added grief stressors. While the routine and social aspect of school is sure to be helpful, those who are grieving will face new challenges, many of which can be eased with a little planning.

The first goal is to help make sure your child feels safe and secure. Losing a loved one [or coping with a new diagnosis] can make the world seem scary and random, so ensuring a good support system is in place at school can help ease your child's transition. You may want to contact the principal, your child's teacher, and the school counselor to let them know about your loss. If possible, set up face-toface meetings with your child's teachers and the school counselor so that you can let them know more about your child and discuss any concerns you may have. While some kids may not want to be singled out in this way, let your child know that it will be important to have a few adults at school who know...so that they can help if necessary.

If you need tips on how to answer questions or cope with certain reactions, reach out on the NTSAD Family Support Group page on Facebook. And, always feel free to contact Diana at NTSAD for other resources at (617) 277-4463.

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Commentary: 5 back-to-school tips for parents of special needs kids

by Greer Gurland, HeraldNet, Everett Washington

1. When a child is struggling in school, the answer is not always “work harder.” Children — even very bright children — can have learning or other challenges that make school rough. And schools can do a lot to help them.

2. Parents are their children’s best advocate.

Schools have more resources than ever, but often parents need to share what they see and ask for their child to be evaluated in all areas of suspected disability.

3. ​This is a new day in special education. Children with special needs — including ADHD, dyslexia and autism — are often educated side by side their non-disabled peers. But now they can be taught differently and receive supports that help them succeed and feel good about themselves.

4. ​Maintaining a positive, cooperative relationship with the school is crucial when it comes to designing a school program to help your child.

School personnel want to help. Work together, while letting the school know that you are an informed parent.

5. ​Know you are not alone in feeling stressed about how to help your child, or about what you can do to help. Connect with other parents in your school district, and learn your rights.

Greer M. Gurland is a Harvard law school graduate and special education attorney and the mother of five special needs children. Her new book is “How to Advocate Successfully for Your Child: What Every Parent Should Know About Special Education Law.” She lives in Westfield, New Jersey.

NTSAD Lifeline Online - September 2016

Siblings A Rare Sibling with a Mission!

Carly Gettleman’s big sister, Brooke, had Tay-Sachs. While Carly may not have memories of her sister, she and her brother, Alec, have honored her all too short life by volunteering for NTSAD and raising awareness. This year, Carly, organized a fundraiser in Florida at a local shop raising nearly $2,000 for NTSAD! She rallied her friends and family and made an impact! Thank you, Carly!!!

Calling all Siblings of ALL Ages!

Guess what? We LOVE to highlight the amazing and rare siblings like Carly above! And we want you to send in something about you! It could be anything. What’s your favorite music? Do you play an instrument or a sport? Do you have a hobby that you’re passionate about? Do you want to share a review of your favorite book or movie? Or do you love to draw, paint or write poems?

We’d love to hear from you. (Or moms, dads, grandparents... this is your chance to shine the spotlight on them, too!)

Please send to Diana at diana@ntsad.org or mail to Diana’s attention at NTSAD, 2001 Beacon Street, Suite 204, Boston, MA 02135.

NTSAD Lifeline Online - September 2016

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Research Earlier in the summer there was a thread on the NTSAD Facebook Family Support Group regarding research and NTSAD’s role. We’re re-publishing them here to encourage you to keep asking questions and to contact NTSAD for answers. We are connected to the best in this business via our Scientific Advisory Committee. As we’ve said in the past, “we’re a small but mighty group!”

Why are some grant proposals submitted to NTSAD not funded?

NTSAD receives more than 20 research proposal applications every year. We award $300,000 to $400,000 per year in new research grants, with the maximum grant award of $80,000 for two years. So it is a very competitive process. Every proposal is reviewed by our members of our experienced and esteemed Scientific Advisory Committee (SAC) and other scientific experts, and with input from NTSAD's Corporate Advisory Council. Following are sample comments from reviewers when they don't think a project is a good fit: • This program is very ambitious and I doubt that it is achievable in the time frame.

• Animal model suggested is not appropriate for our disease.

• Long term and still very basic. Worthy but not a priority. No immediacy to clinical practice.

• Long term as no ERT exists yet for disease so this refinement (focusing on delivery) is years away from reality.

• It is speculative whether knowledge gained through this project would lead us to translational progress.

• Translation to the human condition is likely to take many years.

• Aims 2 and 3 are dependent on the success of Aim 1. With the absence of any proof of concept with this or other fusion proteins from this investigator, this proposal comes with risk.

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NTSAD RESEARCH

I n i t i a t i ve Fu n d This fund, set up in 2002, provides grants to researchers whose focus ranges from basic science to clinical trial readiness: Tay-Sachs GM-1 Sandhoff Canavan Over 50 grants awarded have led to over $10 million in research funds focused on these diseases.

NTSAD Lifeline Online - September 2016

And, why are other grants funded?

Alternatively, here are comments from reviewers who approve the research proposals submitted.

• Addresses Clinical Trial Readiness; this could have immediate impact.

• The success of this imaginative project could lead to orally bioavailable CNS penetrant drug(s) to treat the gangliosidoses and is well worth doing.

• In light of unprecedented therapeutic efficacy of gene therapy, which has been demonstrated in animal models in recent years, there is an immediate need to establish validated biomarkers of disease progression that can also be used as secondary outcome measures in future human clinical trials.

• This investigator and this group have unsurpassed expertise in cell and gene therapy • combination treatments for storage diseases.

• Encouraging them to apply their expertise to GM2 gangliosidosis is a major benefit.

WAYS TO STAY ON TOP OF RESEARCH Follow NTSAD on Facebook.

Follow Sue Kahn, NTSAD’s Executive Director on Twitter.

Sign up for the NTSAD Research Reviews.

NTSAD Lifeline Online - September 2016

What does NTSAD know about what research biotech companies are working on?

We are in contact with about 30 biotech companies who we periodically meet with to talk about our diseases and the potential to work with them within their research programs. These companies often insist on confidentiality in talking about their specific interests and programs, so we are not at liberty to discuss anything until they are ready to release the news. However, when they do have something to share, we will let you know. For instance, when Lysogene announced their collaboration with UMass Medical and Auburn to work on developing gene therapy for GM1, we shared their press release immediately.

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Late Onset Alternative Medicine: A Shared Experience written by Eliyana Leyford, affected by Late Onset Tay-Sachs, Oregon

I'm going to be 55 very soon, and I have never ever believed (for myself only) that western medicine is the "end all and be all."

I am lucky enough to live in the Pacific Northwest, where we have "Holistic, Naturopathic, Allopathic, Message and Acupuncture" available to us every day. I am a Veteran, who has a huge spine Injury, permanent left foot drop, paralysis from left hip all the way down. Stroke in '95, And a TBI AND UNFORTUNATELY SEVERE PTSD. I am extremely fortunate in that for me "I will always find a way to go on with whatever physically keeps happening."

Oregon is extremely progressive, and we as a state always look for "alternatives". When Washington become the first state to make it legal, Oregon watched and prepared to get our State ready for implementing into our Laws.

When it became "Legal ", I went to a "Cannabis & Medical Marijuana Store." I got marijuana to smoke first, which for me was harder, only because I have asthma. However, during the short stint, [it] made a huge difference in my body's pain level, anxiety and mood. I talked with a "Medical Marijuana Clinic," and [they] advised me that I would do way better with going through the process of getting my "Medical Marijuana Card." The "Card" allows you to get edibles, flowers, tinctures, and many other things. Also, once you are “registered,” you are allowed to have a certain amount of "clones" to grow your own, to make "edibles, butter, cookies, oils, etc.”

I cannot express enough of how unbelievably excited I am every day that I am not in constant agony. It allows me to sleep through the nights. I'm a firm believer in "co-joined " medicine for the "health of patients."

S.R. 683 CARERS ACT - Introduced by Senator Cory Booker GOAL: To extend the principle of federalism to State drug policy, provide access to medical marijuana, and enable research into the medicinal properties of marijuana.

STATUS: Pending votes.

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NTSAD Lifeline Online - September 2016

My “Secret” Weapon

By Vera Pesotchinsky I would like to introduce you to my mother, Sophia Pesotchinsky, who recently became a board member of NTSAD, but her involvement with this organization began long before that. Even before I was diagnosed with LOTS in 2000, I had been incorrectly diagnosed with other neurological conditions for many years, and only through my mother’s research and insistence that doctors had not correctly identified the problem, was I finally correctly diagnosed. Almost immediately after my diagnosis, my mother got in touch with and began to work with the NTSAD. At that time, she had over 20 years experience in the medical device and pharmaceutical industries, primarily in the area of regulatory affairs. As a result, she was very familiar with FDA requirements and what it would to get a treatment to market. She did even more research to identify scientists in this field, and connected them with the NTSAD. It has now been 16 years since my diagnosis, and although there is still not a “cure” for Tay-Sachs, we are closer than ever. My mother makes sure to keep up to date with all research that is taking place in this field, as well as research in other fields that might be modified for Tay-Sachs. When there is a treatment or something that might help, my mother will certainly know about it. So I can focus my attention on doing whatever I can to offset the day to day effects of LOTS, while my mother actively participates in staying abreast of any developments in the research community, and for that, I am eternally grateful.

Are you interested getting together for a Late Onset group chat online?

Contact Scott Hunger at sahunger@verizon.net or Diana Pangonis at diana@ntsad.org.

If you want a directory of emails, Diana can mail you one. It is a confidential document can should not be shared or used for anything other than connecting with the Late Onset community.

NTSAD Lifeline Online - September 2016

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Conference NTSAD 39th Annual Family Conference Thursday, March 30 to Sunday, April 2, 2017 Dallas/Addison Marriott Quorum by the Galleria 14901 Dallas Pkwy Dallas, Texas 75254 Registration fee: $315 (includes all meals from Thursday lunch to Sunday breakfast brunch) Hotel rate (including hotel tax): $161.59

Helping Hands Program An important goal of the conference is to ensure every family is able to attend the conference especially those who cannot afford it. This is achieved through the Helping Hand Grant Program. Each year approximately $50K is raised through donations and grants. Every dollar raised is awarded directly to families in-need to help cover the expense of attending. Scholarships range in size from covering one night at the hotel to covering hotel and registration for the entire family. Each grant application is considered on an individual basis and priority is given to newly diagnosed families, families that have not attended before, and families that have lost their loved one in the past year. Due to the demand for help, travel expenses are no longer covered.

Applications will be available soon. Stay tuned.

Registration, Helping Hand Grant Raffle Sales & Hotel Reservations will open September 26, 2016 10

NTSAD Lifeline Online - September 2016

Summer. NTSAD Family Style.

Eli met John Cena.

Kit loved swimming with her family.

Jessie got a ride on a Harley.

Pauly and Harleegrace went for a drive.

Cooper went to school.

NTSAD Lifeline Online - September 2016

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In memory Our NTSAD Family has had to say goodbye to these dear children this summer. Please take a moment, read their names aloud and hug those you hold dear in their honor.

Maykel Cal Oliveira Received his wings on July 11, 2016

Lucy Day

Received her wings on July 22, 2016

“Don’t write your name in the sand, waves will wash it away.

Don’t write your name in the sky, the wind may blow it away.

Write your name in the hearts of people you come in touch with.

That’s where it will stay.”

- anonymous