23 October 2014

Dwarf Info #16) Adventures at the doctor

I mentioned in a previous post how difficult it can be to find a doctor as an adult LP because we tend to need to follow the specialist wherever they are (especially for surgery). Well, today I had an appointment with a clinical geneticist at the skeletal dysplasia clinic at Cincinnati Children’s Hospital, so I thought I’d let you in on a glimpse of what an appointment looks like for me.

The appointment took a little over 90 minutes, and I met with: 1) a medical assistant for intake; 2) a genetic counselor for comprehensive assessment; 3) a clinical geneticist. Why the geneticists, you ask? Well, think of them as a clearing house, the place where I can get the most comprehensive care in terms of assessment, and the place that knows where to send me for further medical assessment and treatment. No, I don’t need genetic counseling in the way you might imagine, but rather because these guys know what’s wrong with my genes and can anticpate what my body is likely to do next and why, and who might be able to *maybe* do something about it.

The medical assistant did the standard stuff that we all get an a doctor’s office: height, weight, BP, etc. The counselor asked me about pretty much every part of my body, but no clinical advice or exam. Not really sure why I see her, to be honest.

The big gun is the clinical geneticist. He knows all the genetics behind my diagnosis and the subsequent physiology. He asked me a million and one questions… starting from my head and going to my toes. We talked about my migraines, my eyes, my ears, my diet, my exercise, my surgeries, my pain. And on and on. From there, he decides what problems are dwarf problems and what problems are just normal people problems. For example, my migraines are just migraines. He wasn’t sure about the correlation between my dwarfism and the keratocunus in my eyes, so he looked it up. Nothing. Just bad eyes. But, he did refer me to a cornea specialist anyway, which I needed. It does turn out that Jeevan’s mumbling problem could actualy be hearing loss on my part due to the structure of my ear bones, which could lead to conductive hearing loss. Who knew? For the record, I think it’s just Jeevan.

We spent the most time on my pain. What worried him is the radiculopathy I’m having on the left side. This could indicate spinal stenosis, ruptured disk, spondylolisthesis, worsening hyperlordosis, etc. In a perfect world, he would just refer me to their ortho-spine guy in house, but, I’m over 22, so no Children’s Hospital surgeons for me! Now, he’s going to figure out where to send me next so I can get spine images and advice. Still no good news about the ankle. I’ll just have to suck it up until a miracle ankle replacement or some 3D-stem-cell-printing-fake-ankle comes along. For now, it’s me and my orthopedic boots.

After we talked about the shape of my body, he examined me. He flopped over my hands, my wrists, saw how far I could extend my elbows. He squeezed my hands, my fingers, my toes. Poked my knees. Commented on my colorful leggings. Took a picture. He did all sorts of soft tissue examinations. Basically, I was poked and prodded.

I didn’t leave with any prescriptions, imaging, lab results, or genetic evaluation. What I did leave with is a game plan. He gave me a todo list, really. This is my list, verbatum:

Follow up in Human Genetic in 1 year
Refer to a local pain clinic in Indianapolis
Refer to A.K., MD, for corneal evaluation
Get hearing tested locally
Get vitamin D levels checked
Identify an appropriate orthopedic setting and specialists with imaging studies

This is the type of visit where you leave with more doctors than you had when you walked in. There is no one-stop shopping for dwarfism. It’s all about seeing the appropriate person for what’s troubling you at the moment. Aside from geneticists, there are no dwarf doctors. There are no -ologists for dwarfs like there are oncologists for cancer, nephrologists for kidneys, neurologists for the central nervous system. The problem is that the part of my genes that mutated caused systemic problems. There isn’t just one system that is broken. The dysplasia part of my diagnosis means that my epiphyses (growth plates) weren’t made right, but that also means that my entire anatomy is effected. It’s about waiting to see what one shift does to the rest of my body, because as they say: the hip bone’s connected to the thigh bone, the thigh bone’s conected to the knee bone… and on and on.

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