The National Institutes of Health have Genetic and Rare Disease (GARD) Information specialists that may be able to help you find information.
The GARD Information Center does not provide genetic counseling and does not offer diagnostic testing, referrals, medical treatment or advice.
There is a phone number and online form found here:
rarediseases.info.nih.gov/GARD/EmailForm.aspx
Information in Spanish and English. You don’t have to be living in the US to ask a question.
Rob