Larsen syndrome update.

[Jinnty89]

Hello, thank you all for your replies to my question about Larsen Syndrome. I asked my GP if it continues into adulthood and how it would effect me regarding being able to have knee replacements. My GP agreed it does continue all through adulthood, as it is a development issue, again, something I have had no clue about, or any information of idea of what it is, and the full ramifications for my bones , especially for when I get older. She was surprised I didn’t know about it, but did agree it is hardly ever heard of these days, but didn’t want to refer me to anyone else for more information and help with it. Her only suggestion is to go back to the orthopaedics drs, and see what they say about it and if medicine has come on, to the point in order to still be able to have knee replacements. At the moment, I know it is pointless asking to be seen again, all due to Covid, and the huge backlogs in our hospitals. Everyone in my family, I have asked about this, they say they were never told of it, which I must admit, leaves me with mixed emotions. I’m sure a lot of people would maybe feel like this as well, so if you have any tips on how to reconcile emotions on it, then please give me your tips. I have given it thought, and I am going to get in contact with my GP again, and ask to be referred to a specialist, as I need to know if it is heritable, and if it will get worse as I get older. But, mainly, a huge thank you 😊 all, for all your input in my post. Take care.

[Happyrosie]

Hello Jinty. I’ve looked back at your earlier posts and especially the helpful replies that others have given. Yes, I think you will need to persevere with the medical profession. But first, have you tried one of the specialist charities? They may know more??

[Jinnty89 in reply to Happyrosie]

Hello, thank you for taking the time to reply to me. What charities do you mean, I don’t know of any charities that have this syndrome listed. Thank you again, for getting back to me. Take care and stay safe.

[Happyrosie in reply to Jinnty89]

What I mean is one of the arthritis charities. If I read it correctly, the symptoms are not dissimilar to some arthritis symptoms, and the symptoms might be treatable. If you phone, say, Arthritis Action they may not have it to hand straight away and you’d probably have to tell them the symptoms but they would probably be the best people to find out more for you.

[Jinnty89 in reply to Happyrosie]

Thank you so so much for your reply and help. I never thought about that, and I was wondering what you meant about charities, and that never crossed my mind that they might be able to help, or give me more information. I really can’t thank you enough for your help and patience in explaining things to me, it is very much appreciated. Take care and stay safe. 👍

[piglette]

With Larson’s syndrome there is no reason that they cannot treat the individual symptoms. Going back to your orthopaedic doctor sounds like a good idea. I know people with Larson’s syndrome do have knee replacements. It is considered a rare disease so research into it is limited. There was a medical trial in Chicago a while back I am not sure what happened to it.

[Jinnty89 in reply to piglette]

Thank you for taking the time to reply to me, I do intend to go see them again, but unfortunately I will have to wait until hospitals are no longer under pressure and all clinics are back up and running. I have been told that this is a rare thing, I am just disappointed that I had to find out myself. I don’t know if the surgeons are aware of it, and maybe that is part of the reason I was denied before. Again, I understand this is all speculation, but hopefully I’ll get some answers in the foreseeable future. Thank you again.

[piglette in reply to Jinnty89]

I think it is worth getting on a waiting list to see someone, particularly as your GP seems happy to refer you. At least then you are in the system. I think waiting for things to be up and running again may be a very long wait.

[Batty1]

rarediseases.org/rare-disea...

Interesting read

[Jinnty89]

I really really don’t know how to thank you for your link. It has really given me a lot more info on this syndrome, still don’t have full clarity on it, but I am definitely going back to my Dr. Thank you again.

[Batty1 in reply to Jinnty89]

I wonder if you should really be seeing a rare disease doctor vs. plain old Gp

[Jinnty89 in reply to Batty1]

Yes, I’ve been thinking about that as well. I can ask and see what she says. Thank you for taking the time to reply to me. Take care and stay safe.

[Batty1 in reply to Jinnty89]

Not a problem just hope it helps.