Rare bone disease

[Mmum1]

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

[Met00]

Oh dear, what a worry for you, and really not helped by having a doctor who is being so dismissive. I don't know anything about osteogenesis imperfecta, but do know that bone thinning doesn't necessarily show up on x-ray. Sometimes fractures don't even show up on x-ray, with an MRI scan needed to reveal them! I'm sorry I can't help further, but hope you get some answers from the genetic department.

[Mmum1 in reply to Met00]

Thankyou x

I feel this dr is doing all he can to not acknowledge his condition. I really have my fingers crossed that the geneticist can help x

[Fruitandnutcase]

Is it your GP or a hospital consultant who is being so obstructive? If it is your GP then could you see a consultant privately? I think you are right though that a geneticist will hopefully be more of a help to you. How old is your son?

It might even be worth contacting the ROS for advice - there is a link on the right hand side of this page.

[Mmum1 in reply to Fruitandnutcase]

Hospital paediatric doctor. My son is now 6 months. 1 month when we found fractures. Because of his age they blamed abuse and this dr will not change his opinion no matter what evidence is provided. He told me he did not believe my sons dad has normal bone appearance and said that it is impossible and asked to look at the xrays and I provided the disk then he said he won’t look at it 🤦🏼‍♀️

[Fruitandnutcase in reply to Mmum1]

What a nerve that he won’t even look at the evidence and what a nightmare. I’ve heard of parents with babies who have breaks having similar problems as you are having.

I hate to say it but you might need to get legal advice, preferably from someone who specialises in medical problems.

[Mmum1 in reply to Fruitandnutcase]

Yeah it got me quite angry.

Yeah unfortunately it happens a lot.

I have a lawyer because they’ve removed my son because of this.

[Fruitandnutcase in reply to Mmum1]

Glad you have got a lawyer, good luck with it all.

[OIMum]

Hi there, how have you been getting on since you last checked in? Did they give you a diagnosis for your child. I have OI as have most of my family going back through my Mum’s side. I hope the doctors listened to you and you little one is doing well?