So, I'm one of those 'lucky' people who has known about my Marfan Syndrome since birth because it runs in my family and goes back several generations.
I try to stay on top of what's happening in the field as it might impact my medical care. Recently I came across a description of Beals Syndrome on the National Marfan Fdtn. website and so many things clicked into place... I'm wondering if I (and most of my family) actually have Beals and not Marfan.
Below this text I've included a list of symptoms, but my main questions are: Does anyone here know of a clinic / practice that is currently studying Beals (CCA)? Does anyone here have personal experience with this syndrome?
To my knowledge no one in my family has been to a genetic counselor, because most affected family members made it to adulthood before such testing was even available. The common traits shared by my affected family members are marfanoid stature, extreme myopia, joint contractures and what we've lovingly termed 'cauliflower' ear - a crumpled appearance to the top part of one or both ears.
Marfan has been a part of my identity for as long as I can remember — it's always affected so much of what I 'can' and 'can't' do. (And I've been proud to think that maybe I share something with Abe Lincoln and Paganini...!) Has anyone else experienced this that would be willing to share their experience / insight?
Thanks for reading,
Skeletal / Muscular: I'm a 31-yr old female with tall / skinny frame (wingspan greater than height) but no joint hypermobility. When my doctors have known about Marfan they often think it's odd that I'm not 'bendy'. My elbows have not straightened fully since birth, although a mild contracture of the ring and pinky finger of the left hand resolved on its own by the time I was 6 months old. I was born with clubfeet that were corrected with casts worn for the first 6 weeks of my life. Calves / forearms have always been skinny, and I blame my weak calf muscles for my _constant_ ankle sprains. Recent fractures have led doctors to believe I have osteoporosis. (Bone density scan scheduled for a few weeks from now.)
My toes / fingers are ridiculously long, which served me well in my first career as a musician. (The fingers, that is, not the toes!)
Mild mitral valve prolapse, but no aortic dilation. I get regular echocardiograms.
Extremely myopic (-17 diopters), but no lens dislocation / retinal detachment.
I've never had the typical long and narrow Marfan's face. Instead I have a rather round face with a small-ish lower jaw. 'Cauliflower' crumpled appearance on the upper / outer left ear.
Probably not related (?), but I also have discoid lupus and fibromyalgia.
Anyhow, thanks again for reading and please pass on any info / references you think could be relevant.