Welcome to our Newly Diagnosed Families

A warm WELCOME to the families and care providers of newly diagnosed patients with a STXBP1 disorder. You are not alone.
Your family is now part of a really loving and supportive community of parents raising some pretty remarkable children.

The STXBP1 community in Australia, numbers just over 30 families but we are part of a much larger global community of over 1000 families with the numbers growing every year as genetic testing becomes more available. In Australia, our STX’ers (as we like to call our darlings) range in age from little bubs right through to young adults.

Globally there is research underway that gives us all so much hope, spearheaded by the US STXBP1 Foundation. In Australia we are in the process of setting up our own STXBP1 Australia Foundation and looking to fund an Australian based researcher as well. There is much to do, but every year pathways to help our children emerge with global research, drug trials and a greater understanding of the STXBP1 diagnosis.

Here are the top 6 ways you can be involved

  1. Join our mailing list by emailing stxbp1australia@gmail.com
    This is the best way to stay current with all news from the Foundation including current research and clinical trial opportunities.
  2. Complete our census survey. Every quarter we report back to the US STXBP1 foundation on our Australia population. This information is anonymised and shared with pharmaceutical companies for research opportunities.
  3. Join our Facebook groups. You can use Facebook as another great source to stay current with updates and the Facebook groups as a safe place to connect with other parents and care providers.
  4. Visit www.stxbp1disorders.org (home of the USA STXBP1 Foundation) for the latest global research updates
  5. Participate in a natural history study. Share your experience by completing a series of surveys and interviews. The questions answered today could lead to the discoveries of tomorrow. For more information, go to: https://www.stxbp1disorders.org/clinicaltrialsandresearch
  6. Participate as a Volunteer, Fundraiser, an Advocate, and more …

There are so many ways to help out. Whether it’s connecting with other families in your state, assisting with our Foundation, donating, fundraising, writing a blog post, or amplifying our messages on social media. It’s all important. It’s rewarding. It’s appreciated. And, it all makes a BIG difference in helping to find a cure.

It’s so easy to join in and make a difference right away!