First Connections

Providing Reliable Information and Connections since 1957.

Individual and Family Support

Welcome to NTSAD’s First Connections Program

Thank you for reaching out to NTSAD. Whether you or a loved one has recently received a diagnosis, are seeking answers, or are supporting someone affected by Tay-Sachs, Canavan, GM1 gangliosidosis, or Sandhoff disease, we are here to help.

By completing this form, you’ll help us better understand your situation so we can connect you with appropriate resources, support, and members of our community.

About You

Your Connection to the Diagnosis

Which best describes you? *

About the Individual with the Diagnosis

Diagnosis Information

With what condition has you or your child been diagnosed? *

Do you know the disease-causing variant(s) or genetic mutation(s)? (Examples: HEXA c.1278insTATC, HEXB variant, GM2A, GLB1 variant, ASPA variant)

Do you have a copy of the genetic testing report (or would you be willing to obtain it)?
If yes, would you be willing to share it with NTSAD?
Would you like assistance in understanding your genetic report?

Diagnostic Journey

Family Information

Do you have other children or siblings who may be affected as well?
Would you like information about family planning, carrier testing, prenatal screening, or genetic counseling resources?

How Can We Help?

What type of support would be most helpful right now? (Select all that apply)
Would you like NTSAD to introduce you to another family or individual with a similar experience?
Would you like a member of NTSAD's Director of Family Support to contact you?
Preferred contact method *

Consent

I consent to sharing this information with NTSAD for the purpose of providing support, resources, community connections, and information relevant to my situation and to advance research. NTSAD does not share your personal information with third parties without your consent.*

Reach out to us and let us know how we can help.

Navigating a Diagnosis

Learn how to make your care plan, build a care team, and communicate with confidence.

Supporting Siblings

Help siblings understand what it means to have a brother or sister with a rare disease.

Resource Library

Browse our library of reliable and accurate information about rare diseases.