So when we last were together, I hinted that I met with the eminent geneticist, Dr. Claire Francomano, who has been (or will be) able to help me tremendously. Here’s the scoop:
During the visit, Dr. Francomano’s assistant went through the 33-page questionnaire I had returned to them when I made the appointment (six months earlier! It takes that long to see her; the demand is that great, but so worth it!). I had to update anything that had happened in six months—my December hospitalization was a big deal, for example. Then the doctor’s assistant, Jessica, briefed her before they both came in for the exam. Not only is Dr. Francomano brilliant and kind, with shining eyes and a dazzling smile, but also Jessica was brilliant. They function as a sensational team. So whatever Dr. Francomano says during the interview, Jessica is typing into a report, pulling in relevant template paragraphs as the doctor brings topics up. Here’s the stunner: I would forget some detail in response to a question during the exam, and Jessica could remember it, based on her close knowledge of the information. “Didn’t Greg have that?” It completely knocked me out. She didn’t even know my family, yet she could answer questions about us better than me!
An exam by a geneticist is similar to the kind of physical you probably have had, with some things added. Height, weight, BP, some taps on the belly, all the same (although if the exam findings are abnormal, they might be positive for genetic mutation as well). Then the doctor begins to look for genetic mutations. I’ll give you some examples of positives I had.
Here are a few tests related connective tissue disorders generally (those include Ehlers Danlos Syndrome): I score 7/9 on the Beighton Scale, which indicates that I have joint hypermobility. I can touch my forearm with my thumb bent underneath the wrist; I can bend both elbows in the wrong direction 22 degrees; and both my knees bend about the same in the wrong direction. I can also touch my palms to the floor with knees extended. So that’s the measure of the Beighton Scale. Oh, I also have hypermobile shoulders (I always wondered why no one else could do this:) Reach on) e hand over and behind me and the other under and behind me and shake them—do that on both sides. In addition, I have clinodactyly (a permanent cuvature of the fifth digit finger and of my toes, which is strongly associated with various genetic disorders, but also with autism, incidentally), piezogenic papules on heels, and hammer toes. All these seem to be related to Hereditary Connective Tissue Disorders (HCTD) (please read the links for more info, if you’re interested).
If you want to send me a video of your trial of the Beighton Scale to post on this blog, please do! Shoot me a response on here or email me at franglass AT mac DOT com, and I’ll give a couple of other exam trials to add to your video if you think you might be hypermobile.
In the exam, Dr. Francomano did name still more issues I was unaware of. I have grey sclerae (whites of the eyes). The whites of your eyes are composed of connective tissue. Normal sclerae are white (or opaque) because the connective tissue is thick enough to disguise the choroid (that’s dark stuff that houses the vitreous humor of your eye). However, people with HCTD have progressively thinning sclerae, and thus the grey-ness. This fact haunts me. How thin is too thin? I envision the contents of my eye rupturing sometime. How terrible it would be to be blind. Maybe that’s the least of my worries, though.
I love that Dr. Francomano finally solved at least part of the mystery of some of my proprioception problems in physical therapy. (If proprioception isn’t in your daily vocabulary, break it down to two words that probably are: proper and reception. This word refers to the ability we have to orient ourselves in space with unconscious stimulation of the body. So if you recognize those two words within the long word, you’ll remember it: we can move through space because we get the proper reception from the body. Got it?). So, the doctor explained I have a straightening of my cervical and thoracic spine (above the waist), the direct opposite of scoliosis. It so perfectly explains why when in physical therapy, when the therapist asked me to stand leaning over, my spine parallel to the floor, he expected a gentle, natural curve in my spine (like most people have!) but I never could produce one for him—nor could I even feel what he meant in a thousand years. I can’t get proper reception from my body. The transmitter is off.
Anyway, at the end of the exam, Dr. Francomano had me get dressed. While I did so, Dr. Francomano and Jessica met and compiled the rest of the report, which took some time. Then the doctor came back in the room to meet with me and discuss her diagnosis and recommendations with me.
She told me her general impressions, some of which were a surprise, and some of which were totally shocking. But her delivery was so kind and sweet; I have never experienced such caring.
The physical exam with a geneticist was a little like some sort of strange acting class. I had a curious sense of being both in my body and about six feet above it, observing. I was both the performer and the audience. Without apologies, I have a voyeur’s fascination with all things medical, so the exam, and its curious vocabulary of the genetic mutation was a treat (particularly from the voyeur’s perspective, not so much the performer’s). Being the performer felt like being a body in that traveling medical exhibit, Bodies. I didn’t panic, though until the appointment was over, because somehow it didn’t sink in that we were really talking about me.
More next time, kids!