We've come full circle with our attempts to get a diagnosis for ds

[emkana]

The latest expert has had a look and has decided it is Jeune's syndrome after all - which was first suggested in pregnancy, then discarded when ds was six months old, then put onto the table again, then dismissed again...

[sigh]

[anonandlikeit]

So how do you feel? Do you think this is the correct dx?

[emkana]

I feel confused and annoyed. I want to believe that they are wrong, because Jeune syndrome could mean kidney or liver failure in later years, a very scary prospect. but who am I to think I know better than the experts. It's just that when you read about the syndrome ds doesn't seem to really fit the bill at all.

[PlainOldPeachy]

I remember Jeunes when it first came up for you Emkana. I thought there were lots of ittle things that made it look unlikely?

as I know Jeunes is a scary idea for you.

[PlainOldPeachy]

I remember Jeunes when it first came up for you Emkana. I thought there were lots of ittle things that made it look unlikely?

as I know Jeunes is a scary idea for you.

[TotalChaos]

I remember your problems when PG with the experts all saying different things, and remember the suggestion of Jeunes. I do hope they are wrong again. It must be extremely trying having to go through this all again

[emkana]

I have sent ds's recent x-rays to America again now, to the same experts who ruled out Jeune's two years ago, to see if they change their mind now in light of how his bones have grown. Wish me luck...

[emkana]

Wow I'm so impressed! I received a reply from the experts in America already, when I only sent them Friday evening! And the best thing: They still don't think it's Jeune's! Wahey!

[TotalChaos]

wow - that's speedy service! that must be a relief.

[anonandlikeit]

Thats fantastic.
Can the US expert speak to the UK expert & maybe (hopefully) discount Jeunes once & for all. You never know 2 heads are better than one maybe they can come up with the correct dx!