Sunday, September 28, 2008

Ehlers-Danlos - Update

I had my appointment at Hopkins on September 16th. For those of you that want the Cliff's Notes version, the long and short of it is that I do in fact have Ehlers-Danlos Syndrome, though it's uncertain which type. I could have the hypermobility (most common) type, the classical type, or the vascular type--the doctor couldn't tell for certain. He did do a skin biopsy, which he said is the gold-standard test to determine if a patient has the vascular type of EDS, so I should know the results from that in mid-December or so.

My appointment at Hopkins was a long day up in Baltimore. The genetic medicine center at Hopkins is contained within the Pediatric Cardiology center. Let me tell you, if you want a way to feel old really quickly, walk into peds cardiology. It honestly made me a little sad, too, as there were some kids there who were really young (one couldn't have been more than a year old, soem of them were about 6 or 7, another I saw was about 10). I felt really weird being an otherwise healthy 28-year-old around all these kids who had real health issues. It was a bit sad, really, I can't imagine being a parent with a kid who needs to go to a cardiologist at that young an age.

Anyway...I had to get there at around 10 a.m., as I had an appointment to get an echocardiogram (ultrasound of the heart) at 11. I guess, since it's a peds clinic, that when they typically do these, they need the kids to relax, so they have it setup so you can watch a movie while you get it done. Though I've had one before and didn't really feel a "need" to watch a movie, the tech picked one for me (National Treasure) and between the movie and the heated bed, the echo went by really quickly. Even better, the echo showed that my heart is doing well. There was no sign of an enlarged mitral valve (which I could've sworn I had signs of on my previous echo), nor any mitral valve prolapse (a common symptom of EDS).

After lunch, I had to return to the clinic to talk to the genetics doc. I was with him from about 1 p.m. until almost 4 p.m.! He did a lot of different things. Some were things you'd find on a normal physical, some seemed kind of odd. For example, he asked me if I had a high palate (and I honestly had no idea), so he stuck his finger in my mouth to find out that yes, mine is fairly high.

He also wanted to see the flexibility in my joints, and see how much my joints hyperextended. At one point, he had a total of 9 points possible, and I'm kind of curious of what the 9th point was. I got a 7 out of 9: my left elbow, both knees, my left pinkie, and both wrists are hyperextensive. I would have gotten an 8, as my right pinkie "should" be hyperextensive, but since it's been broken and pinned, the new alignment serves as a mechanical lock for that hyperextension. My right elbow was the only point I missed "naturally." I know it was one point each for each pinkie, each elbow, each knee, and each wrist, but I'm curious as to what the 1 joint was that I apparently also got a point for. I didn't think to ask then.

At the end of the exam, the doc said that I do have Ehlers-Danlos. This really doesn't come as a surprise, given my history with my joints. He wasn't able to determine which type I have, though, which he indicated was unusual. In the current classification scheme, there are 6 types of EDS. Three are very rare, with fewer than 100 reported cases of each. He doesn't think I have any of those. However, of the three more common types, hypermobility (most common), classical, and vascular (least common of the three), he isn't certain which type I have.

Of the three types, only the vascular type is "scary"-it leads to premature death (according to the Wikipedia article, the average person with vascular EDS dies at about age 48). Fortunately, there is a gold-standard test (his words, not mine) for testing for that type--a skin biopsy, which he performed. I should know the results in about 3 months, or mid-December. The doctor seems to think it's unlikely that I have the vascular form, though couldn't rule it out completely (short of the biopsy). I'm missing some of the classical symptoms of that form, including characteristic facial features and heart issues. I also don't have any family members who have died young of unexplained causes or of organ rupture or anyeurism, which is a good sign.

Assuming I don't have vascular EDS, the doc seems to think it safest to assume that I have classical EDS, which has more implications than the hypermobility type. With the hypermobility type, the only real thing I have to worry about is that my joints will typically be loose, and therefore surgeries to stabilize the joints will typically fail. With the classical type, there are a couple more concerns:
1) wounds can take longer to heal, so when having any type of surgery, I should ask that the sutures be kept in longer and pay attention to any signs of internal wounds not healing
2) pregnancy can be dangerous, as there is a chance of uterine rupture (I'll have to talk to my personal doc about that)

With the classical and hypermobility types, one of the best things I can do is continue working out and developing my tonic strength--that is, not lift for bulk, but for toning. I guess that means I'll keep working out with Brian. :) While he helps me continue to improve my tonic strength, he can also help me ensure that when I lift and stretch, I'm not hyperextending my joints.

So, in the end, I finally have a reason for why I've had so many problems with my joints. EDS is a genetic disorder that is autosomal dominant. That apparently means that it impacts both genders equally (females can have higher severity, but the incidence rate is the same between male and female) and that you only need 1 gene with the mutation to get it. This means that there is a 50% chance that I can pass on the disease to each child I have. They will always get the same form as I have. I'm kind of curious which parent I got this from (or if it was a spontaneous mutation in me). My sister thinks she may have some joint hypermobility, so it is probably safe to assume that it came from one of our parents. In the end, though, it probably doesn't matter which parent has it--I do have it, and now I just have to keep it in mind when getting my injuries treated and when considering surgery.


John said...

Thanks for the update! That wait till December must suck a bit, even if the probability is very small.

Anonymous said...

hi there,
just FYI, one can also have a gene mutation and be the first in a line of genetics to get it. that is my case. nice to see someone doing so much explaining! thanks and peace,
see my blog, just started, at

Anonymous said...

Hi Kirsten,

My name is Rowena Brewer and I am from New Zealand. Check out my blog:

I have Classic EDS and if you have that you are going to be absolutely OK, I promise! The Vascular one is scary and I have taught at a shool with two little twin that have it. The thing about Vascular is there is specific face characteristics etc and seeing you, I doubt you have it! My fingers will be crossed for you and would love to hear that you are ok!

Love Rowena

Anonymous said...

Am hoping you have the results by now. I have ehlers danlos hypermobile type, and whilst thankful not vascular, it is the associated with terrible pain. I am middle aged but wish you every good wish and urge you to get good physio as I was not diagnosed until it was too late for me. A bone density test may be helpful as I also have severe early onset osteopenia, osteoporosis. Keeping my bendy fingers crossed that you now have the results and do nothave vascular eds. From a well wisher in the UK.

kristin said...

Thanks for the well-wishes, folks! I'll be checking out the links, too.

I have indeed gotten the results, it appears I have the classical EDS, and thankfully not vascular.

I'm actually going to be writing a post about this soon, about how knowing I have EDS hasn't changed a lot for me...yet, but how it might in the future. And, how having it without knowing might have been one of the best things for me...hopefully in the next day or so, I'll get some time to post (work has been absolutely crazy lately)!

BubbleGirl said...

Below is a link to the test for hypermobility, I scored an 8, but I would have scored a 9 if I was tested a few years earlier, before my spine started to twist, when I could touch the floor.

Anonymous said...

Hello, I wish you the best of luck.
I have EDS vascular, but It is not the worst thing. Indeed the fear for short life is there, but is also a great gift. I think I take my life really serious. I don't have lots of pain, but I do have to rest a lot. I always lived a happy life, now a quiet one, but still happy.
If you want, you can visit my blog:

Take care and God bless you

Anonymous said...

I reacted before, but I just wanted to let you know I changed my blog to:

God bless you.

Anonymous said...

Hi Kirsten
I'm glad to know that your biopsy was fine and I hope you're doing well. I have a little 3-year old girl who I suspect has EDS. She was very floppy when she was born, and had a congenital hip disclocation which thank God has been treated.
I'm sorry, I wanted to ask a personal question. i suddenly realised 2 days ago that her eyes are quite wide apart. Is that a characteristic feature of the disease? does anyone know the answer to that one?
Thanks for your help

kristin said...

"I'm sorry, I wanted to ask a personal question. i suddenly realised 2 days ago that her eyes are quite wide apart. Is that a characteristic feature of the disease? does anyone know the answer to that one?"

I've read that widely spaced eyes can be a sign of Ehlers-Danlos, but it in and of itself is not a positive indicator. Widely spaced eyes could be nothing, could be a sign of EDS, or could be something else entirely. I would encourage you to ask your pediatrician about Ehlers-Danlos. Apparently most people get diagnosed when they're children--I was weird in that I was diagnosed at 28. I think that some of the "problem" I had with getting that diagnosis is that I tend to see a lot of specialists, and I didn't have one doctor looking at the big picture. Best of luck!