Guide for Newly-Diagnosed Families: Next Steps in Navigating Sanfilippo

Next steps after diagnosed with Sanfilippo

You’ve just been told your child has Sanfilippo Syndrome, and it probably feels like your entire world has been turned upside down. You may be overwhelmed and desperate for information and for hope. We know, we’ve been in your shoes.

You are not alone. We are here for you.

This brief Sanfilippo Syndrome guide walks you through the initial questions most families have about Sanfilippo, including what to do next. This introductory information is intended to help you be proactive in caring for your child and giving them the best quality of life.

Maybe you will read every word of the guide or if perhaps you aren’t quite ready. Either way, we also urge you to reach out to us at Cure Sanfilippo Foundation ( to schedule a conversation with our experts.

We are also parents of children with Sanfilippo and are here to talk through your questions, learn about your child and family, and help you think through immediate next steps and plan for what the future holds.

The free guide created by Cure Sanfilippo Foundation explores:

  • What does a diagnosis of Sanfilippo Syndrome mean for your child
    • What causes Sanfilippo
    • What are the subtypes
    • What are the symptoms
    • How does Sanfilippo progress
    • What is the lifespan of children with Sanfilippo
    • How Sanfilippo and Autism intersect
  • What you should do after diagnosis
    • How to investigate clinical trial options
    • How to build your child’s care team
    • How to investigate disability services available to you
    • What therapy options to consider
    • Talking to your family about Sanfilippo
  • Living with Sanfilippo
    • Emotional support for you (the caregiver)
    • Considerations for future family planning
    • Available support organizations and resources

The Sanfilippo Syndrome guide also has multiple links to additional resources for you and for other, including your child’s primary care provider, your family, and for your child’s school.