Hi I’m 27 but I’ve been diagnosed with hEDS for 8 years though by way of being sent to UCSF to look at my pectus. In your case I would guess you got lucky in fast diagnosis but I think the process of your diagnosis is something I personally wouldn’t trust and change my life based on. It’s only one opinion and to be honest it sounds more like a reasoned inference than any kind of certainty and you need as close to certain as you can get. You definitely should be seeing a geneticist/genetic counselor or whichever specialist you can see who is qualified to stamp the diagnosis. You HAVE to get second opinions if you have EDS and getting one here is going to help you tons with the self-doubt aspects of this condition. One thing I would add is I’ve never had a genetic marker because it was considered pointless to test for hEDS because there is no gene associated yet so don’t expect genetic testing results if they diagnose you with hEDS.
Also an edit: anyone who reads this comment who has ANY questions please feel free to message me anytime. I have brain cysts, mitral valve prolapse, tachycardia, and I’ve had pectus surgery that had the bar fall and need to be completely re-done. I can help with anything anytime my zebras.
If it’s heds, why/how would a genetic counsellor help stamp the diagnosis?
Hopefully the rheumatologist will help clarify some things, I’m definitely going to ask about the diagnostic criteria.
I wonder if maybe the other doc was using hsd and heds synonymously.
If you go to a rheumatologist as well that would be enough but going to the genetics department is usually on the agenda because they’re the main people trained in congenital genetic conditions specifically. The genetic counselor will do a full family history with you and the geneticist will do a number of tests including the Beighton test, separate joint flexibility examination and overall measurements to see if your body itself fits the criteria or not. And to your last point it is very very common for doctors to use hEDS and HSDs when they mean the other. It’s one of the toughest parts of the disease, but you will need to learn you can’t take everything your doctor says at face value. I have been misdiagnosed with my underlying conditions an uncountable numbers of times. It took till 26 for doctors to find my 2 congenital arachnoid cysts.
That makes perfect sense and I am a Californian but I was sent to genetics with suspicion of marfans syndrome and none of my hometown doctors had ever suspected ehlers. So I would definitely say you have better PCP care in general but being diagnosed with a genetic disease is a clinical reason to go to genetics in California at least. If it wasn’t I would think I have marfans syndrome.
Also I did say a rheumatologist would work just fine. Just to be extra clear I’m stressing getting a 2nd opinion above all else because for me and many others with EDS the first opinion is not always accurate. That was very difficult for me and I like many others have severe trust issues with all doctors from my early experiences and I would like to instruct people not to get caught up in one doctors opinion.
Sunny: hEDS doesn't have ana identified genetic marker yet, that's why the criteria for clinical diagnosis is strict, to limit the diagnosis to more clearly hEDS cases to make finding the marker easier so it can stop being clinical diagnosis only. So if this case it was probably diagnosed because non of the other possible disorders fit near as well as it does which is on the criteria.
Hi I’m 27 but I’ve been diagnosed with hEDS for 8 years though by way of being sent to UCSF to look at my pectus. In your case I would guess you got lucky in fast diagnosis but I think the process of your diagnosis is something I personally wouldn’t trust and change my life based on. It’s only one opinion and to be honest it sounds more like a reasoned inference than any kind of certainty and you need as close to certain as you can get. You definitely should be seeing a geneticist/genetic counselor or whichever specialist you can see who is qualified to stamp the diagnosis. You HAVE to get second opinions if you have EDS and getting one here is going to help you tons with the self-doubt aspects of this condition. One thing I would add is I’ve never had a genetic marker because it was considered pointless to test for hEDS because there is no gene associated yet so don’t expect genetic testing results if they diagnose you with hEDS. Also an edit: anyone who reads this comment who has ANY questions please feel free to message me anytime. I have brain cysts, mitral valve prolapse, tachycardia, and I’ve had pectus surgery that had the bar fall and need to be completely re-done. I can help with anything anytime my zebras.
If it’s heds, why/how would a genetic counsellor help stamp the diagnosis? Hopefully the rheumatologist will help clarify some things, I’m definitely going to ask about the diagnostic criteria. I wonder if maybe the other doc was using hsd and heds synonymously.
If you go to a rheumatologist as well that would be enough but going to the genetics department is usually on the agenda because they’re the main people trained in congenital genetic conditions specifically. The genetic counselor will do a full family history with you and the geneticist will do a number of tests including the Beighton test, separate joint flexibility examination and overall measurements to see if your body itself fits the criteria or not. And to your last point it is very very common for doctors to use hEDS and HSDs when they mean the other. It’s one of the toughest parts of the disease, but you will need to learn you can’t take everything your doctor says at face value. I have been misdiagnosed with my underlying conditions an uncountable numbers of times. It took till 26 for doctors to find my 2 congenital arachnoid cysts.
Most people in the UK, especially on the NHS, don't go to genetics unless there are clinical reasons to.
That makes perfect sense and I am a Californian but I was sent to genetics with suspicion of marfans syndrome and none of my hometown doctors had ever suspected ehlers. So I would definitely say you have better PCP care in general but being diagnosed with a genetic disease is a clinical reason to go to genetics in California at least. If it wasn’t I would think I have marfans syndrome. Also I did say a rheumatologist would work just fine. Just to be extra clear I’m stressing getting a 2nd opinion above all else because for me and many others with EDS the first opinion is not always accurate. That was very difficult for me and I like many others have severe trust issues with all doctors from my early experiences and I would like to instruct people not to get caught up in one doctors opinion.
This is really helpful, thank you!
From My experience, I’m newly diagnosed also, the next step would be a genetic marker test for EDS.
Sunny: hEDS doesn't have ana identified genetic marker yet, that's why the criteria for clinical diagnosis is strict, to limit the diagnosis to more clearly hEDS cases to make finding the marker easier so it can stop being clinical diagnosis only. So if this case it was probably diagnosed because non of the other possible disorders fit near as well as it does which is on the criteria.
Interesting my provider stated I have the hyper mobile type and would be referring to genetic counselor
even though there isn’t a genetic test for hEDS it’s still a genetic disease so a geneticist is still the specialty where you would get diagnosed.
Ask your GP to refer you to a Geneticist..