Being Diagnosed is Overwhelming! This is a Checklist to assist with getting started:
1. First Ask for a copy of your Path report of your muscle biopsy or genetic blood work
2. Start a medical notebook of your own. Always try to keep a copy of all major medical stuff; EKG, Echocardiograms, blood work, MRI, CT, Breathing Studies, pathology, gait studies, genetic testing......more than likely you will never see just one doctor or one health system so it is imperative that you advocate by having records readily available if possible to share when needed.
3. If diagnosed already please go to CureCMD.org and register with the International Family Registry for Congenital Muscle Disease. (This allows you to also look and compare statistics and see if there are any research studies available.)
4. Please join the Facebook group on the home page https://facebook.com/groups/285978178093465/ this is highly suggested for support and others like diagnosed like you can help give advice.
5. Breathe......it can be managed....you just need information and support.