|
NTSAD Community News
Research, Collaboration, and Community
| |
The Mathew Forbes Romer Foundation recognized us for our advocacy and hosting of the GM2 ELPFDD meeting with the "See the Light" award at their annual event. | |
And during Rare Disease Month, more than 35 members of the NTSAD community participated in our “Rare Is…” campaign.
I must acknowledge our extraordinary community of adults and families affected by Tay-Sachs, Canavan, GM1, and Sandhoff diseases and everyone who supports them.
Thank you to every adult or parent of a child with one of these rare diseases and their families who said “YES” to sharing their emotional and deeply personal experiences during the ELPFDD meeting and for your heartfelt posts as part of our “Rare Is” social media campaign. Your advocacy has a profound impact on our entire community – people living with these devastating diseases, providing care, or grieving loved ones.
You came together like never before to raise awareness and advocate for accelerating the drug discovery and approval process for Tay-Sachs, Canavan, GM1, and Sandhoff diseases.
On behalf of the NTSAD Board and Staff – thank you from the bottom of our hearts. Families are, and always will be, the center of everything we do.
With gratitude,
| |
|
Last Chance to Share Your GM2 Experience for the Voice of the Patient Report! | |
Are you or a loved one personally affected by GM2 (Tay-Sachs and Sandhoff disease)? Consider submitting a statement about your experience with the disease. Your written statement, along with others and testimonials from the GM2 ELPFDD Meeting, will be compiled in the final Voice of the Patient summary report. (All identifying information will be removed.) This report will serve as a reference for anyone looking to learn more about the GM2 experience, including drug developers, researchers, members of the FDA, and more. Lend your insight and help us advance research to find treatments!
The deadline to submit a comment is tomorrow, Friday, March 15.
| |
NTSAD’s 46th Annual Family Conference: Chicago, Illinois | |
|
The 2024 Annual Family Conference is less than one month away! Join us from April 11 thru 14 in Chicago, Illinois. The conference brings together rare individuals, families, researchers, clinicians, and industry members. All are welcome!
“Being with people that understand is something that I can’t get anywhere else. I don’t feel different, and I don’t feel like my situation is too much for someone else. We have had a long road so far and learned so much.” - Kasey, mom to Katelyn, who has GM1 gangliosidosis disease.
The deadline to submit a Helping Hand grant request is Friday, March 15, and the deadline to register is Friday, March 22. Don’t miss this incredible opportunity to connect with members of the NTSAD Community! Register now.
NTSAD’s Family Services Team understands how overwhelming the idea of traveling with a medically fragile child can be. That’s why they interviewed two rare moms, Kim and Lorelei, about their experiences traveling and attending NTSAD’s conference. Watch the video and learn more.
| |
Our 2024 Conference is made possible by generous sponsors. It’s because of you that our community can come together for four days of connection and support!
Presenting
Anonymous
The Doyle Foundation
Sanofi
Courage
Aspa, a BridgeBio Company
Chris Chapman and William Ohle
Jessie's Rally of Hope
Laura and Simeon Schindelman
Hope
Azafaros
Cameron and Hayden Lord Foundation*
Gerald Cox, MD, PhD*
Hamilton Company Charitable Foundation
Inspiration
Blu Genes Foundation
JCR Pharma
Mathew Forbes Romer Foundation*
Families and Partners
B Brave Foundation*
Lauren Celano*
Stanley Cohen
Bonnie* and Barry Davis, In Loving Memory of Adam Davis
Monica and Gary Gettleman, In Memory of Brooke Chase Gettleman
Jaxson’s Train of Hope
Staci Kallish, DO*
NTSAD of Delaware Valley
Susan* and Alan Roden and Family
Sponsor listing as of print date.
*NTSAD Board Member
| |
The Power of Advocacy: A Rare Family Advocates for Change | |
Recently, rare parents David and Rennie Negron and David’s father Michael Negron, testified before the Human Services Committee in Hartford, Connecticut in support of Senate Bill 206, which would expand the Katie Beckett Waiver Program to reduce the waiting list for specialized program services. David and Rennie’s five-year-old daughter, Chloe, has Tay-Sachs disease.
The Katie Beckett Waiver Program provides Medicaid healthcare services and support to individuals 21 years of age and younger with a physical disability who may or may not have a co-occurring developmental disability. In Connecticut, there is currently a cap on the number of qualified individuals accepted into the program, and more than 300 children are on the waitlist. Parents are forced to try and cover the costs of their child’s extremely expensive care. Other states do not have waitlists for similar programs. The Negron Family spoke in support of expanding the program to eliminate the waitlist and shared their personal experience caring for a terminally ill child at home.
| |
"We are fortunate that we have had the ability to work and provide for our family, and we have already spent tens of thousands of dollars on Chloe’s care. There is no way we will be able to financially sustain her upcoming needs. Doctors have asked us if we would consider moving to another state with a more accessible program, but I cannot accept uprooting my children from the only home they have ever known because Connecticut has not yet prioritized supporting terminally ill children," David shared.
"I urge the legislature to bring Connecticut in line with its neighboring states and help my family and others allow their children to live and pass away with dignity."
Senate Bill 206 would ensure every child has equitable access to the Katie Beckett Waiver Program and would relieve the extremely costly burden families face when providing at-home and medically-necessary care for their child.
Read the article featuring the Negron Family.
Watch their testimonials. David’s starts at 1:50:00 and Michael’s starts at 7:55:00.
| |
|
La Historia de Facundo, Giuliana, y Amanda
Facundo, Giuliana, and Amanda’s Story
| |
We are excited to share with you, in both Spanish and English (see below), the stories of rare, primarily Spanish-speaking families.
Estamos emocionados de compartir contigo, tanto en español como en inglés, las historias de familias raras, principalmente hispanohablantes.
| |
|
Luis, Alejandra, y Maria comparten su viaje de vivir la vida al máximo mientras cuidan a sus hijos que tienen Tay-Sachs juvenil y GM1. Como familias que hablan principalmente Español, estos padres buscaron no sólo respuestas a lo que vieron suceder en sus hijos, sino también apoyo a lo largo del camino. El camino hacia un diagnóstico fue desafiante, pero el amor y perseverancia abrieron el camino hacia NTSAD.
Lea su historia en español.
Mira el video protagonizado por estas familias.
| |
|
Luis, Alejandra, and Maria share their journey of living life to the fullest while caring for their children who have juvenile Tay-Sachs and GM1. As families who primarily speak Spanish, these parents sought not only answers for what they saw transpiring in their children, but support along the way. The road to a diagnosis was challenging but love and perseverance led the way to NTSAD.
Read their story in English.
Watch the video featuring these families.
Watch these and other family story videos on our website.
| |
St. Patrick’s Day: A Reminder to Get Screened! | |
|
If you plan to celebrate your Irish heritage this St. Patrick's Day, consider sharing with your family and community the importance of genetic testing. It is believed that one in 50 individuals of Irish ancestry are carriers of Tay-Sachs disease.
When planning to expand your family, it is important to know if you are a carrier of any genetic diseases. Anyone can be a carrier of a genetic disease and there are over 6,000 known genetic diseases. When both parents are carriers of Tay-Sachs, Canavan, GM1, or Sandhoff, each child has a 25% chance of having the disease.
The carrier rate for the general population for Tay-Sachs and GM1 diseases is 1 in 250. For Canavan disease, the carrier rate for the general population is 1 in 300, and Sandhoff disease is 1 in 600. Like the Irish, people of British Isle, French Canadian, Louisiana Cajun, and Ashkenazi Jewish descent are also considered to be at higher risk.
Nowadays, getting screened is as easy as speaking to a genetic counselor and having a testing kit sent to your home. Regardless of your heritage, it’s important to empower your family by getting tested. Learn more at JScreen.org!
If your family is affected by Tay-Sachs, Canavan, GM1, or Sandhoff email Sydnie at sdimond@ntsad.org to receive a promotion code for free testing through JScreen.
| |
NTSAD leads the worldwide fight to treat and cure Tay-Sachs, Canavan, GM1, and Sandhoff diseases by driving research, forging collaboration, and fostering community. Supporting families is the center of everything we do. | | |
|
STAFF
Kathleen M. Flynn, CEO
Becky Benson, Family Services Manager
Sydnie Dimond, Development and Communications Manager
Valerie Greger, PhD, Director of Research
Diana Jussila, Director of Family Services
Susan Keliher, Director of Development and Communications
Cyndy Perreault-Micale, PhD, Research Associate
| |
|
NTSAD
2001 Beacon Street
Suite 204
Boston, MA 02135
info@ntsad.org
www.NTSAD.org
| | | | |
