Sjögren's diagnosis - prescribed Plaquenil?

[shanku]

Mary, happy to see you finally getting a diagnosis and finding a reliable and expert doctor you like. However, am surprised by the diagnosis, it sounds like a obscure and rare disease. Hope treatments for it bring you some relief. Life with just dry eye was so much simpler!

Thanks for the clarification on the lip biopsy. Yes I am in complete confusion about how my biopsy report is getting interpreted; Rheumy, ENT, Ophthalmologist has different things to say. I got accepted in John Hopkins but have to wait until Nov to see them

About genetic evaluation, not sure where to start or if any doc will be ready to do such evaluation on me. Best Wishes. Thanks

[MaryVa61]

Shanku,

It's possible I have one of the HDCT's that is rare since most are. I think the most common one has a prevelance of 1 in 500 people, but is very often misdiagnosed as Fibromyalgia or something else, according to my geneticist. And many websites are out of date and say 1 in 5,000 or even place it as more rare than that, erroneously. Fibromyalgia was my previous diagnosis, even though it didn't perfectly fit me. She's still working on trying to determine which HDCT I have. It's easier for them to figure out that you have one than to figure out exactly which one since they have many of the same symptoms/findings. Many of those symptoms involve the eyes, but certainly not solely the eyes.

You may want to read up on them a bit to see if they sound like a possibility. Otherwise, it's extremely unlikely that your local doctors will ever think of it even if it is what is wrong. If you're in the UK, Ygwair may be able to suggest a doctor for future reference if you may later want an evaluation. Or you could search the support forum for the UK EDS community online. If in the US, private mail me your state/city and I can help you with that.

There is info on these websites: NIAMS, Ehlers-Danlos National Foundation, Marfan Syndrome Foundation, Gene Reviews, wikipedia (for EDS), Genetics Home Reference, NORD.

It isn't terribly likely that you have an HDCT, but for people like me the info needs to be put out there just in case. According to the National Organization of Rare Disorders, there are around 7,000 rare disorders, a condition is considered rare if less than 200,000 people have it and they estimate that 1 in 10 Americans has a rare disorder. Most doctors don't consider rare disorders when evaluating patients, but eye docs in particular should because eye symptoms are common to many of them.

Mary

Mary, happy to see you finally getting a diagnosis and finding a reliable and expert doctor you like. However, am surprised by the diagnosis, it sounds like a obscure and rare disease. ....About genetic evaluation, not sure where to start or if any doc will be ready to do such evaluation on me