@sadea0208 Sounds like you’re having a bad time with ELP. Have you been able to go to a university hospital in your state? They are much more up-to-date with rare diseases.
You may also want to contact NORD- the National Organization for Rare Diseases. They are able to help with all sorts of information.
https://rarediseases.info.nih.gov/contact/
Do you think you could contact either of these resources?