Hi all.
This is a long post and I apologise in advance.
My son has suffered some fractures before weight baring age. He had a genetic test for osteogenesis imperfecta and came back with 2 variants of uncertain significance in LRP5 gene and P4HB gene.
His dad and I were both tested for those genes and we carry one each. His dad has the LRP5 gene which is a bone affecting gene.
After I pushed and did my own research on the LRP5 gene I got my sons dad to do a bone density scan and he had 38% less bone mass than he should, giving him the diagnosis of osteoporosis.
Unfortunately his diagnosis isn’t so straight forward. His dr has run lots of tests and couldn’t find anything abnormal or any diseases. His bones actually appear normal on standard x rays and all his bone markers are normal except his crosslaps, showing that his bones are breaking down too fast giving him weak bones. His dr said he believes he has a rare genetic condition causing bone thinning and that it would affect our son also.
My son is too young for a bmd scan and the dr refused to check his crosslaps which is the only thing in his dad that was abnormal. He also told me I was lying about his dad’s results and when I offered him his results he refused to take them and said ‘he doesn’t need to look at them’ and refused to do any more research or tests to diagnose my son or take his dad’s results into account.
I have an appointment with the genetic department to discuss it more. They told me they believe his genetic mutations are also bone thinning so I hope I can get further there.
I’m at a loss though with figuring out what is wrong as I can’t find anything on a bone thinning condition that causes bone thinning but appear normal on xrays and why his crosslaps would be so high.
Thanks for reading if you made it through x
I’m happy to answer any questions 
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