@FenellaVelour -- all power to your elbow is all I can say.
With regard to medical diagnosis around fractures - rarer conditions often rely on clinical presentation and a list of easily identifiable symptoms - testing is limited.
For example OI (classic brittle bones) at the time of my case relied on family history and specific skeletal markers etc. However, as a condition it had at that time at least 4 sub-types, which may or may not all present similarly - or not at all. Hormones may play a part. Things may have moved on since then.
One test that was available was a skin / tissue biopsy - it felt like the judgement of Solomon when I was told if I asked for that test and the results didn't show OI then it would be seen as putting myself above my child to get my own justice - it would cause him discomfort and could be viewed as further abuse. In addition, even if it did come back showing OI it didn't automatically mean he hadn't been abused because the nature of the fractures meant they were specific for abuse.
I didn't appreciate being forced into this position, because I wanted my son to have all the information about his health growing up and know how best to support him. The choice was his best interests now, and his long term best interests. I had to take my interests out of the situation.
My son may have a collagen mutation, as may I, but our lives now aren't impacted enough to warrant further investigation. If he decides to have children he will probably explore it further.