We'd like to remind Forumites to please avoid political debate on the Forum... Read More »
We're aware that some users are experiencing technical issues which the team are working to resolve. See the Community Noticeboard for more info. Thank you for your patience.
📨 Have you signed up to the Forum's new Email Digest yet? Get a selection of trending threads sent straight to your inbox daily, weekly or monthly!
What's the point. Appointment waste of time
Options
Comments
-
That's so strange, GOSH refused to diagnose dd as there is apparantly no genetic test for HEDS3!!, also they are moving away from giving kids'' labels & not treating EDS3 as a disability/disease now hummmmm, don't know what to make of that.....No one said it was gonna be easy!0
-
That's so strange, GOSH refused to diagnose dd as there is apparantly no genetic test for HEDS3!!, also they are moving away from giving kids'' labels & not treating EDS3 as a disability/disease now hummmmm, don't know what to make of that.....
There is not a genetic test for EDS type 3 (hypermobility) yet. If there's crossover with another type of EDS, then it's detectable, but there is no test for type 3 by itself to date; diagnosis is by clinical observation. If the aforementioned person was diagnosed with EDS through genetic testing, there must be crossover with another type.Homosexual, Unitarian, young, British, female, disabled. Do you need more?0 -
Eldest does indeed have some crossover to classic type (extreme elasticity of skin and some heart involvement) and they think middle son (still waiting for family testing appointment at Addenbrookes) is of a non hypermobilty version of EDS as he isn't really that hypermobile compared to eldest but does have the extreme easy bruising and very very long healing time (still waiting for his cannula mark to heal from last Feb!)
Youngest is also thought to be crossover EDS.We made it! All three boys have graduated, it's been hard work but it shows there is a possibility of a chance of normal (ish) life after a diagnosis (or two) of ASD. It's not been the easiest route but I am so glad I ignored everything and everyone and did my own therapies with them.
Eldests' EDS diagnosis 4.5.10, mine 13.1.11 eekk - now having fun and games as a wheelchair user.0 -
There is not a genetic test for EDS type 3 (hypermobility) yet. If there's crossover with another type of EDS, then it's detectable, but there is no test for type 3 by itself to date; diagnosis is by clinical observation. If the aforementioned person was diagnosed with EDS through genetic testing, there must be crossover with another type.
I agree with you Tralia, but according to GOSH there is also no clinical tests they can do for her either, so that's why they are stepping away from labeling it?!.
It took me 37 years to be diagnosed, in this day & age really there should not be a 'wait & see' attitude when it presents so strongly in the family. Also i dread the onset of puberty for her, as every female in my family has pcos
. Hypermobility & irregular periods-not a good mix 
Anyway, the plus side is she is being treated by the best & will be under obs from the hand/physio therapies.No one said it was gonna be easy!0
This discussion has been closed.
Confirm your email address to Create Threads and Reply
Categories
- All Categories
- 350.9K Banking & Borrowing
- 253.1K Reduce Debt & Boost Income
- 453.5K Spending & Discounts
- 243.9K Work, Benefits & Business
- 598.8K Mortgages, Homes & Bills
- 176.9K Life & Family
- 257.2K Travel & Transport
- 1.5M Hobbies & Leisure
- 16.1K Discuss & Feedback
- 37.6K Read-Only Boards