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.