Newly Diagnosed
Learning that your child has KAT6 syndrome, caused by a variant in the KAT6A or KAT6B gene, can bring a mix of emotions and questions. It’s completely understandable to feel overwhelmed at first, but you’re not alone. Many families have walked this path, and a strong, caring community is here to support you.
In the early weeks and months, everything may feel uncertain. As you learn more and connect with other parents, you’ll find reassurance, guidance, and real hope. Children with KAT6 grow, learn, and reach important milestones—often on their own timeline—but with the same need for love, belonging, and opportunities to thrive. The diagnosis is only one part of your child’s story. It does not define their abilities or potential.
Although KAT6 syndromes are extremely rare, you are joining a community that understands this journey and is ready to help. The KAT6 Foundation offers resources, tools, and connections to support your family every step of the way.
Caregiver Checklist for KAT6 Syndromes
If your child has recently been diagnosed with KAT6A or KAT6B, here is a condensed checklist for short-term and long-term preparation.
Medical Follow-Up
- Meet with your child’s pediatrician or geneticist to review the diagnosis.
- Confirm which specialists to see and schedule initial appointments.
- Keep copies of reports, test results, imaging, and recommendations.
Early Intervention & School Services
- Request an Early Intervention Evaluation. (Ages 0-3)
- Track therapy recommendations and progress.
- Request a school-based evaluation. (If in school)
- Set up an Individualized Education Plan (IEP) or the equivalent used in your country.
Caregiver Support
- Join the KAT6 Support Group on Facebook to connect with others for shared experiences and advice.
- Watch the Foundation’s welcome video for new families.
- Lean on your friends and family—they can be a vital source of emotional support.
Organize Your Records (Physically and Digitally)
- Medical summaries and evaluations
- Therapy and school plans and reports
- Specialist contact information
- Appointment notes
- Development logs
Research Opportunities
- Review current research studies and data collection projects.
- Sign up to contribute to the KAT6 iPSC Bank.
- Save any consent documents for your records.
EVENTS
Upcoming events from the KAT6 Foundation
The KAT6 Foundation has events all year long, all across the nation! See our upcoming events below:
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