So sorry that your family is going through this. You asked about other resources in the US and outside. I wanted to pass along :

- Global Genes website (https://globalgenes.org)
- Genetic and Rare Diseases Information Center (GARD) from NIH here in the states (https://rarediseases.info.nih.gov/diseases/browse-by-first-letter/m)
- National Organization for Rare Disorders (NORD) (http://rarediseases.org/)
- EURORDIS (http://www.eurordis.org/).

I hope these are of help to you and your family in some measure.
-Melody