October 2015

Lifeline Online October 2015 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 Alison Perkus Development Associate

Lifeline Online is an electronic publication for NTSAD for families.

Information contained in Lifeline is not intended to substitute for professional medical care. Always consult your Physician.

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I am continuously amazed at the power and generosity of the NTSAD Network.

It is visible in the gift of Emma Artinian’s stroller and bathseat to a new family from Haiti who recently moved to the Boston area with their son (who has infantile Tay-Sachs) and have few resources.

Becca and Gary brought it up to Boston and Diana drove it over to the family.

It is at work in the countless volunteer hours that NTSAD’s Scientific Advisory and Corporate Advisory Committees dedicate to helping NTSAD plan its research agenda and prepare for what we hope will be clinical trials for a gene therapy treatment for Tay-Sachs disease.

It is pulsing as our NTSAD families activate their network of family and friends to raise money for research and family support. It shines in the thoughtful responses that parents give to fellow parents’ questions on our private Facebook page.

It is reaching out when NTSAD Boston communicates with and supports our European families whose organization CATS recently hosted their own family conference: we go to Disney in Orlando, they go to LegoLand in Germany.

It is going deeper when medical researchers seek first-hand knowledge of the child and parent experience from families so that they can better understand and treat the disease and help the family.

It grows hope when medical researchers collaborate across institutions. This network takes a lot of energy, time and also money. And the pieces of NTSAD—families, staff, board, advisors, volunteers— are working at it every day.

Thank you!

Blyth Blyth Lord Cameron’s mom NTSAD Vice President & Founder of Courageous Parents Network

NTSAD Lifeline Online - October 2015

Support The Benefits of Aquatic Therapy written by Kelly, Cooper’s mom

Cooper loves to be in warm water! He started aquatic therapy at our local hospital as part of his physical therapy regime upon being diagnosed with GM-1 Gangliosidosis.

Warm water therapy became his favorite thing. Quality of life and enjoyment is an important goal for Cooper that we are always trying to achieve. We were so excited when a wonderful team of supporters were able to provide Cooper with a therapeutic hot tub at our home. He now enjoys therapy in his own back yard.

The buoyancy and warmth of the water enables him to kick his legs and stand with support. It has helped with Cooper’s muscles pain and tightness. It has been a go to place when he is experiencing irritability. But, the best part and benefits of the hot tub has been the wonderful bonding time with his two brothers and sister. They love to be in the hot tub with Cooper! It is truly his happy place.

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!”

DO YOU SPEAK MORE THAN ONE LANGUAGE? We have families contacting NTSAD from all over the world. If you speak Spanish, Italian, Portuguese, Russian, German, French, or another language and would like to be an international mentor (or if you’re interested in translating some Family Support materials into any of these languages) let Diana know at diana@ntsad.org.

Janette shared a wonderful resource for the colder months ahead for kids and adults alike.

The Kyler Koat Project makes these fleece covers for free.

Visit their Facebook page to learn how to have one created for you!

NTSAD Lifeline Online - October 2015

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

DETAILS, DETAILS, DETAILS...

RAFFLE BENEFITS HELPING HAND GRANT FUND!

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.

The Helping Hand Grant Raffles are a great way to raise awareness, raise much-needed funds to help families with the costs of attending the conference and to earn a free registration with every 63 books that are sold.

Registration Conference brochures will be mailed the first week of November with online registration officially opening by Monday, November 9th.

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

There are three cash prizes (1st - $1,000, 2nd - $500 and 3rd - $250) along with an NTSAD Hope Knows No Boundaries t-shirt!

There is an online way to sell the raffles via a link on the Helping Hand page at www.NTSAD.org. You can also call NTSAD for the link at (800) 90-NTSAD. Becky (becky@ntsad.org) is also creating custom raffle pages for anyone who wants to sell tickets. Families have been sharing their pages on Facebook to generate interest!

A New Opportunity!

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. Just send Ingrid at ingrid@ntsad.org the contact information and addresses for the businesses you think would want to place an ad in our conference book.

The NTSAD office will do the rest!

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NTSAD Lifeline Online - October 2015

Kids’ Korner

Halloween & Fall.

NTSAD Family Style.

Getting to Know...

Xander!

What is your favorite thing to do?

Some of my favorite things is to solve my rubix cubes, doing magic tricks for my friends, speed stacking cups, gaming, and spending time with my family!

NTSAD Lifeline Online - October 2015

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Late Onset Corner What do you do to stay active (mentally and/or physically) and how have you adapted what you love to do?

• I stay physically active by having physical therapy twice a week by a PT. My wife-to-be also exercises my legs with 40 reps per leg every day and my arms. She massages my legs too. I stay mentally active by posting by e-mail & facebook a daily Bible Trivia question; I also post Inspirational Christian Links by e-mail & on facebook daily too.

• Mentally I like doing crossword puzzles, playing poker, watching Jeopardy, and trying to name the group or person singing on the radio. Physically I'm lucky enough to still be working and just getting through the day seems to be working for now along with short walks with my wife when I have enough energy.

• I go to an indoor pool kept at 92 on MWF from my W/C to water 3.5-4.5' deep for 2 hours getting water therapy. From there on Tu,Wed, Thur. Fri. I go to a gym. Goodwill Fitness and workout on all their adaptive equip for 2 hours. Also get help using a walker at the gym when time is available. THe whole key is not to let it beat you.

Keep fighting back

Assistive Devices for Ambulation (from United Spinal Association publication on Mobility Alternatives)

These are simple devices to help you walk––a cane, crutches, and walkers.

• Manual Wheelchair: Essentially, a chair with wheels designed to allow you to self-propel or be pushed along by a companion or an attendant.

• Power Assist Devices: These are mechanical devices installed on manual wheelchairs to make it easier for the user to self-propel.

• Scooters: Most are three-wheel designs, although some four-wheel models are available, usually with an electric motor, and a tiller for steering. A scooter is an effective mobility device that does not look like a wheelchair.

• Power Wheelchairs: Front-wheel, mid-wheel, and rear-wheel drive options are available. These chairs operate by an electric motor and are controlled by using a “joystick,” or an “alternate control” device. Many offer multiple seating options, including power seating.

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NTSAD Lifeline Online - October 2015

Join the Late Onset Facebook Group.

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

Natural History Questions We will be sending out the conference brochures in the next week and those of you in the Late Onset Community will be receiving a letter regarding: • Whether you have participated in a natural history study before; if so, where?

• If you have not, would you like to?

It would be helpful, if you would return the letter in the enclosed envelope (along with your conference registration if you’re attending) as soon as you can or let Diana at diana@ntsad.org know the answers to those questions.

Thank you!

Research What is Substrate Reduction Therapy?

Substrate reduction therapy uses small molecules that pass the blood brain barrier into the central nervous system and decrease the amount of substrate or waste product that accumulates. Think of a clogged sink with the faucet running and turning down the faucet. The water will still fill up the sink but it will take longer.

A visual representation: a) In most individuals the substrate (water) can be degraded efficiently by adequate enzyme volume (hole in sink). b) In affected individuals the amount of enzyme is insufficient to efficiently degrade the substrate and it accumulates. c) In affected individuals treated with substrate synthesis reduction therapy, the amount of substrate is decreased to match the amount of residual enzyme to prevent accumulation.

NTSAD’s Scientific Advisory Committee Chair, Fran Platt, PhD, compiled a review paper on substrate reduction therapy for lysosomal storage diseases (also known as the LSDs). The full paper can be downloaded from the NTSAD website library.

NOTE: NTSAD is keeping an eye on the progress of some SRTs that are in development that have potential in crossing the blood-brain barrier. Stay tuned to future news!

What are your research-related questions?

If you have a burning question about research that you want to ask, let us know. Email Diana at diana@ntsad.org and we can access our incredible network of knowledgeable researchers, physicians and other health professionals to find an answer.

We hope to make this an ongoing feature for our monthly “Lifeline Online” magazines!

What is the potential role of substrate therapy?* In view of the effectiveness of miglustat (a substrate reduction therapy) reported in Niemann Pick Type C (another neurodegenerative disease) and its subsequent approval by the drug regulators, would miglustat also be useful for treating the ganglioside storage diseases (e.g. Tay-Sachs, Sandhoff and GM1 gangliosidoses)?

Animal models have shown that treating mice with Tay-Sachs, Sandhoff, and GM1 with miglustat before symptoms of disease arise is helpful (10, 11, 42).

However, a clinical trial of miglustat did not demonstrate benefit in patients with late onset Tay-Sachs disease (43). It remains unclear whether earlier treatment in more mildly affected patients would result in benefit. It will be important to collect more information about patients before starting future trials, so that the effects of the medication can be measured better.

There are reports of benefits to individual patients with Tay-Sachs disease treated with miglustat (44, 45). Miglustat is not an effective treatment for patients with infantile-onset (disease symptoms beginning before 1 year of age) as these children have too little residual enzyme to break down the remaining gangliosides that are made. However, further studies in patients with later onset diseases are warranted if coupled with detailed natural history studies to allow better interpretation of the outcomes of the trial.

* Excerpt from “Substrate Reduction Therapy for LSDs available at www.NTSAD.org

NTSAD Funds Carrier Screening Project!

NTSAD, JScreen/Emory University and Counsyl entered into an agreement to fund and conduct a research study that will lead to improved Tay-Sachs screening using new DNA testing methods. NTSAD is funding this study with affiliates Cameron & Hayden Lord Foundation, Evan Lee Ungerleider Fund of NTSAD, Mathew Forbes Romer Foundation and the New York Area Fund of NTSAD. NTSAD Lifeline Online - October 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.

Haiven Mills

Received her wings on October 16, 2015

Emma Artinian

Received her wings on October 4, 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 With all remaining strength within us.

- Rabbi Harold M. Schulweis

Sage Hoffer

Received his wings on September 30, 2015