Have you or a loved one recently been diagnosed with Nemaline Myopathy? A new diagnosis brings an enormous amount of information all at once. This page outlines some essential first steps:
1. Confirm the genetic diagnosis, if not already done. Genetic testing identifies the specific gene involved, informing care decisions and eligibility for research and trials. Get more information here about AFBS affiliated genetic testing opportunities.
2. Join the patient registries. Registries support research and ensure your family is notified of relevant studies and opportunities. Find more information here.
3. Connect with AFBS and the NM community. Other families have navigated this path and are available to share guidance and support. Find opportunities to connect here.
4. Learn more about Standards of Care: The Care of Congenital Myopathy: A Guide for Families is a comprehensive and valuable resource for those with Nemaline Myopathy, representing the expertise and experience of medical professionals and families from all around the world.
5. Additional Support: For guidance specific to your situation, contact us directly at info@buildingstrength.org. Our team can help identify the most relevant resources.
