I was diagnosed in my 40's with a genetic syndrome and like everyone else I hit pubmed and quickly got frustrated when I could only read the abstract.
The big difference between me and parents of children with undiagnosed genetic condition is that I have a name, whereas many are hitting the internet to search for one.
Pubmed allows you to search with keywords, very often it is a domino, one paper leads you to another that leads you to another and so on.
I just finished reading cracking the code, a book which tells the story of a family with a genetic condition and how the parents played a huge role in the diagnosis and discovery of the gene responsible for Leukodystrophy.
I recommend you watch the video below to learn how to access the full medical papers. Before watching it, I would sometimes write some very intense email to the researchers listed on an article, asking questions, and never has anyone replied to me.
So, if you are browsing the net in desperation, I hope this will help you. You might not get the answers you are looking for, but hopefully it will make your research a little easier.
Make sure to read the further explanations you can fin under the video as the domain has now changed. But I am using the one reported, and it works perfectly well.
nutritionfacts.org/video/how-to-access-research-articles-for-free/