Leading the Fight to treat and cure
Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

Issues Today

From our friends at EveryLife Foundation (December 20, 2017)

Capitol Hill Updates

The House and Senate have passed a conferenced version of the Tax Cuts and Jobs Act, which makes cuts to the Orphan Drug Tax Credit (ODTC), a key provision of the Orphan Drug Act which incentivizes rare disease treatment research by lowering development costs for manufacturers. This version of the bill would reduce the tax credit’s value from 50% to 25%. The bill also makes changes to the medical expense deduction, which is currently utilized by approximately eight million Americans who have medical expenses that exceed 10% of their adjusted gross income. This deduction can now be taken for medical expenses exceeding 7.5% of income. Click here to read about the final tax bill.

The final tax reform legislation repeals the Affordable Care Act’s individual mandate, which requires individuals to enroll in an insurance plan or face a financial penalty. Earlier this year, the Congressional Budget Office (CBO) estimated that repealing the mandate would raise the number of uninsured individuals to 13 million by 2027. Click here to read about what repealing the mandate could mean for insurers.

The Children’s Health Insurance Program (CHIP) expired on September 30 but is still awaiting Senate reauthorization. It provides affordable, comprehensive health insurance for children in families with too much income to qualify for Medicaid, but struggle to afford private insurance. A Continuing Resolution passed earlier this month extended current spending levels for two weeks in order to prevent government shutdown. States like Connecticut are already planning to close their healthcare program for low and middle-income children by January 31 if Congress fails to extend federal funding. Click here for more information.

Earlier this month, the Food and Drug Administration (FDA) released draft guidance entitled, “Pediatric Rare Diseases —A Collaborative Approach for Drug Development Using Gaucher Disease as a Model Guidance for Industry.” The guidance covers the use of age-specific endpoints, extrapolation from adult studies to demonstrate treatment efficacy, and strategies for designing multi-arm clinical trials. Click here to read more.

In response to public feedback on Patient Participation in Medical Product Discussions of the Food and Drug Administration Safety and Innovation Act (FDASIA), the FDA created the Patient Engagement Collaborative (PEC). The PEC will focus on how to incorporate meaningful patient engagement in medical product development discussions. The Agency is seeking participants from the patient community, caregivers and individuals who represent patient groups. Click here for more information


Community Action Alerts & Policy Resources

First Focus is encouraging patient advocates to sign-on to a letter asking Congress to extend CHIP funding. They note that the program is critical for the 8.9 million children that depend on it. Click here to read the letter and sign-on.

Research!America is asking advocates to write to their Members of Congress urging them to oppose legislation that would provide funding for the Department of Defense while holding non-defense discretionary spending static. This would impact agencies like the National Institutes of Health (NIH) and FDA. Click here to take action.

The Epilepsy Foundation is asking patient advocates to write to their legislators to encourage them to oppose the Americans with Disabilities Act (ADA) Education and Reform Act of 2017 (HR 620). According to the Foundation, the bill would weaken protections for people living with disabilities by making it easier for businesses to avoid complying with the accessibility requirements of the ADA. Click here to take action.

The EveryLife Foundation for Rare Diseases is asking individuals to contact their Members of Congress in support of the OPEN ACT (Orphan Product Extensions Now, Accelerating Cures and Treatments; HR 1223/ S1509) which has the potential to double the number of treatments approved by the Food and Drug Administration (FDA) for rare diseases. For more information and to take action, click here.


Community Events

On January 25, the NIH will hold a symposium entitled, “Global Perspectives on Standards and Common Data Elements Used in Patients Data and Biospecimens Collection.” Click here for more information.

On February 25 to March 1, RDLA will host Rare Disease Week on Capitol Hill. Events include a rare disease documentary screening and cocktail reception, Legislative Conference, Lobby Day, Rare Disease Congressional Caucus briefing, Rare Artist reception, and Rare Disease Day at the NIH. Click here for more information, including the schedule of events.  Registration will open on January 3, 2018.

On March 1, as part of Rare Disease Week on Capitol Hill, the NIH will host Rare Disease Day at NIH. This event aims to raise awareness about rare diseases, the people they affect and NIH research collaborations to advance new treatments. Click here for more information.

On March 8, the FDA will convene a public workshop on “Safety Assessment for Investigational New Drug Safety Reporting.” Click here for more information

On March 19 to 21, World Congress will host the 6th annual Patient Advocacy Summit. Industry leaders, patient advocates and policy makers join to tackle the complexities of patient advocacy and the healthcare market. Click here for more information.


Remembering our loved ones who left us too soon...

2018 Annual Family Conference Sessions

2018 Sessions (subject to change)

Camp Snuggle/Active
(Available Thursday, Friday, Saturday of Conference)
In addition to the typically held Camp Snuggle, at the 2015 Annual Family Conference we expanded on our effort to provide adequate affected childcare and formed Camp Active to provide our families with further support to cover the needs of their children.  Incorporating our trained nurses and volunteers, many of whom are moms of affected children themselves, we have a very highly skilled team who are able to care for our affected children during conference session times so that parents can attend sessions hands free, if they so choose.  However, affected children are always welcome in sessions.  Registered nurse and mom of affected child, Nickolas, who had Tay-Sachs; Rhonda DuVall heads up our Camp Snuggle/Active rooms so that Camp Snuggle is a serene place designed to quietly support the needs of affected infantile children who benefit from less sound and movement while the Camp Active room may appeal more to our juvenile and Canavan families in that is provides an atmosphere of excitement and engagement with sounds, games, and a higher level of stimulation.

Camp Sunshine
(Available Thursday, Friday, Saturday of Conference)
Our dynamic Camp Sunshine program is a conference favorite among our healthy siblings, ages 0-9.  While mom and dad attend sessions our siblings get to attend their own camp where they will play together and spend time creating crafts, playing games, and having fun with our trained staff of conference childcare providers, all in a secure environment right inside the hotel.  During the Camp Sunshine offering there will be the opportunity for siblings to also attend the Sibling Workshop where they, along with their peers will get to talk about what it means to be the brother or sister of a special child.

Youth Group
(Available Thursday, Friday, Saturday of Conference)
Our healthy siblings, ages 10-17, have the chance to come together as their own group with a whole new program for the day on Thursday, including a Youth Peer Group (YPG) session (just like the PPG sessions the parents attend), and other support based activities while their parents are in their won groups.  And of course, we couldn’t forget about the two Youth Retreats the Youth Group will take on Friday and Saturday to see the sights around the Jacksonville area, complete with Youth Advisors (adult healthy siblings of affected children) and our very own Dad Chaperones.

Thursday, April 12, 2018

Welcome Sessions
To kick off the conference we’re offering welcome sessions for everyone.  A time to get to know each other, share your story of diagnosis and why you’re here, and to find out about what to expect from the conference all weekend long. 

Parent Peer Group (PPG Session)
For all parents of affected children, this session is a chance to talk about the day to day lives of caring for and living with an affected child, as well as coping after their passing.  This session is closed and restricted just to parents.

Grandparent Peer Group
Grandparents are an important component in connecting the family lineage to future generations, and we know what an important role they play in the lives of their children and grandchildren. When a life altering diagnosis affects your grandchildren, and by extension your child, and you we know it’s doubly devastating. The Grandparent peer group is a place to talk about life in relation to that diagnosis and your role in the family. This is a closed group for grandparents only.

Late Onset Group
Adults living with the Late Onset versions of Tay-Sachs and Sandhoff come together to share their stories, experiences and what they aspire to do in their lives. This a closed group for these adults.

Youth Group (Healthy Siblings ages 10-17)
Before venturing out on their retreats over the next two days, Thursday will be a chance for our older siblings to get to know one another, and find out how they’re alike, as well as what makes them unique as special siblings.

Parents Helping Healthy Siblings Cope
In the midst of a diagnosis like our children’s, carrying on with life and all that it entails can be a challenge.  This session will address how we relate to our healthy children, and how we help them cope while doing our best to cope ourselves.

Friday, April 13, 2018

NTSAD Research Update Session
Join the doctors, researcher,s and NSTAD Scientific Advisory Committee in learning about the latest in the research effort for our allied diseases.  This session is for everyone.  Details TBD.

Sibling Breakout Sessions
In these two breakout sessions specifically designed for healthy siblings ages 4-6 and 7-9, they will have a chance to discuss their lives and what it’s like to have a special sibling at home, or one that has passed.  They can safely and openly share their feelings in this nurturing environment, and get to know each other and the bond they share to understand that there are other siblings here, just like them.

Men’s and Women’s Support Groups
These sessions are designed specifically for parents of affected children.  They will be a place to discuss the roles we take on in our lives in relation to our affected children.  These are closed sessions for parents of infantile/juvenile affected children only.

Grandparent’s Support Group
A time to discuss the special and unique role grandparents play in the lives of their children and grandchildren as part of the family unit. This session is a closed session, and for grandparents only. 

Late Onset Group

Palliative Care Choices
This session for both infantile and juvenile families will include discussions to help attendees gain an understanding of the various forms of palliative and eventually hospice care, and provide information so that each family has the knowledge to choose the right path for their child.  This session is intended for our families with living children, but is open for outside participation.

Quiet Reflection
A time for those who have loved one that have passed to display any treasured mementos in the Commemoration Ceremony room, and pay their respects as they walk around the room to view the items presented by other families.  The Commemoration Ceremony will be immediately following the time of Quite Reflection.

Commemoration Ceremony
As a way to pay respects to our loved ones who have passed, we hold this Commemoration ceremony each year.  A candle will be lit for all those families in attendance who have a loved one gone too soon, and a slide show of pictures will play as their names are read aloud.  While this session is open to everyone we understand the sensitive nature of this ceremony and attendance is never required.  Please feel free to attend, or not to, in keeping with whichever you feel most comfortable.

Saturday, April 14, 2018

Health Management for Affected Children, Infantile and Juvenile
The health management session will address the day-to-day care required after diagnosis and will include tips and tools to help mitigate the issues that arise in highly structured care. This session is intended for our families with living children, but is open for outside participation.

Living with Grief (Parents)
This session will be an interactive discussion that focuses on our lives as bereaved parents.  This is a closed session for bereaved infantile/juvenile parents.

Living with Grief (Grandparents)
This session is designed for grandparents whose children have affected children who have passed.  This discussion will revolve around your role in caring for your grieving child amidst your own grief.  This is a closed session just for bereaved grandparents.

Late Onset Group - TBD

Strengthening Relationships while Caring for a Child
A terminal diagnosis of an immediate loved one affects our lives and relationships with everyone we know.  From parents, to children, siblings, coworkers and beyond, this session will address how we communicate with and relate to everyone in our lives.  This session is open for everyone with an affected loved one.

Strengthening Relationships while Grieving
From diagnosis to bereavement our lives surrounding our affected loved one affect our relationships with everyone we know.  From parents, to children, siblings, coworkers and beyond, this session will address how we communicate with and relate to everyone in our lives.  This session is open for everyone who has a bereaved loved one.

Wrap Up Sessions
PPG, Grandparent, and LO groups will all have their own final peer group session that will include a wrap up portion at the end to discuss their thoughts on the conference as a whole.  These session are each closed to their respective groups.


NTSAD Care Tips Series

The goal of this series is to document and capture information that relates to the family experience in all its forms (caring for a child, grief, living with the adult onset forms) and the symptom and care management involved. These videos allow families, supporters and healthcare professionals worldwide to have access to information that may not be readily available to them in their area. An imperative goal of this series is to relieve the isolation brought on by these rare diseases.

G-Tubes: A to Z


Download a companion PDF with the highlights of the video here.


Massage & Range of Motion


Download a companion PDF with the highlights of the video here.

Imagine & Believe Rare GENEiuses

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Reasons to Go

“For our family attending the conference is like coming ‘home’ to a family that understand and where you don’t have to explain yourself…you just get unconditional love and acceptance.”

“Attending conference changed everything for me. It’s an incredible feeling to bond with other families who understand what you are going through and are willing to hold your hand through it all..... it’s hard to sum it up.  The conference truly changed my life!”

“The support and guidance we received in the meetings was invaluable in helping us to stay on our feet, band together as a family and to continue to support her brother. There was so much comfort in knowing we were with other parents who completely understand the way we are feeling.”