Welcome Families and Caregivers
Welcome to our parent-led community.
If you are here, it's likely that someone dear to you has been diagnosed with DHX30 Syndrome/NEDMIAL.
Your dedication is commendable, and together, we can navigate this journey with resilience and compassion.
As a community led by parents, we understand the unique challenges you face, and we're here to provide support, information, and connections tailored to families like yours. Explore resources, connect with others, and find solace in shared experiences. The rarity of this condition means doctors currently have few answers as to what the future holds for those with DHX30 mutations. From our experience, we are the ones educating the doctors and specialists about this mutation. Through the power of the Internet, many of us have been able to connect, bond and share in the victories of our children.
Australia
Belgium
Brazil
Finland
France
Hungry
India
Israel
Italy
Lebanon
Mexico
Netherlands
New Zealand
Norway
Poland
Turkey
UK
USA
As of January 2024 there have been 95 cases identified in 17 countries
What Can We Do Next?
If you're reading this, you've likely embarked on quite a journey to reach a diagnosis for your child, and we want to acknowledge the strength and resilience it took to get here. Discovering the DHX30 Syndrome diagnosis likely came with a mix of emotions, especially considering that it is a newer diagnosis with limited existing knowledge. In this section, we share ideas on next steps and how you can find support from other families who share similar experiences. Your valuable insights and shared experiences can play a crucial role in pushing our research team forward toward new treatments. By coming together and contributing your experiences, you not only seek support for your own journey but also actively participate in advancing the scientific understanding of DHX30 mutation.
Join our Facebook Community 1
This exclusive community is limited to immediate caregivers and researchers to maintain a space where we can openly and privately discuss all aspects of caring for a child with DHX30 Syndrome. A place where caregivers can connect with each other and collaborate with researchers, contributing to the collective understanding of DHX30 mutation.
2 Obtain your child's specific mutation
Obtain your child's specific mutation, this is crucial for understanding. Find it in the diagnosis paperwork, physician's portal, or request it from the doctor who ordered the exome testing. This information is vital for your understanding and contributes to our collective knowledge of DHX30 syndrome.
Review the Therapies Page 3
Explore the Therapy Page to discover effective ways to support your child. Gain insights into various therapeutic approaches and resources tailored to meet the unique needs associated with DHX30 mutation. Empower yourself with valuable information to enhance the well-being of your child.
4 Bookmark DHX30.org
The next step is to bookmark the DHX30 website in your browser. This ensures convenient access to valuable information and resources whenever you need them. If you have any specific questions or need assistance along the way, feel free to ask.
Reach out by email 5
The subsequent step is to reach out privately to our DHX30 United team of parents. Make a personal connection. We understand that receiving a DHX30 mutation diagnosis can be overwhelming, and we are here to help make this journey a soft landing for you. Speaking one-on-one with another parent who truly gets it can be a great way to ease into understanding and navigating the complexities of the diagnosis. Your connection with experienced parents can provide valuable insights, support, and a sense of community as you embark on this journey.
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