Hello, Goodbye…Revolving Geneticists

Our old geneticist went to another hospital in another state. I can’t say we were sad to see him go. He made some uber creepy comments and we weren’t at all comfortable with him or his comments about boys only wanting my daughter for sex and how she “didn’t look 13”. (At her first visit.) Plus, he hadn’t been that able except for coordinating with the study she’s in at Columbia, so no great loss.

Still, because of said study and the results we would get from the exome sequencing, we did need a new geneticist to get those results to. I called our Children’s Hospital and they said we were in luck, there was an appointment that week. I said “Oh I hate to take away a quick appointment from someone else who might need it. We don’t have anything urgent. When is the next appointment?” January. 2017. It’s April 2016. “Ok, we’ll take this week.”

Of course, my zebra has several specialists, three of whom are on the same floor, which is also where they do labs. So we know our way around and know a lot of the folks. In fact, we bumped into her Rheumatologist in the hallway, got a great nurse we’ve seen before, and even a student we’ve worked with at another appointment. (It’s a teaching hospital so they often come in before the doc or with the doc.)

When the new geneticist walked in, we immediately liked her. However, the first thing she said was that she wanted us to be aware that she’d just put in her six weeks notice. Really?!? Ugh. And we REALLY like this one. So much so, that if she stays in our state at all, we’ll probably follow her as long as she takes our insurance at her new place.

Basically she’s more concerned about Vascular issues with her history, our family history and some traits she has. So, she had us change our zebras medical alert bracelet to “Vascular Ehlers- Danlos”. Technically she’s been diagnosed with Hypermobility type, and the first testing for Vascular came back negative. According to her geneticist though, “That doesn’t mean you don’t have it.” Tests are flawed and we don’t know all EDS genes. Besides, we already know there is a lot of crossover between types. They don’t all fit neatly in their own little boxes. So I suppose she’s “Hypermobility with Vascular crossover”. In an emergency though, she said they need to laser in on the vascular issues.  She also wants me to wear one. With my history, she says it came from me and I need to be aware and wearing a bracelet as well.

Hmm. I knew I had some hypermobility and definitely joint pain with some snap crackle and pops that shouldn’t be there, but I never thought much about it since I was pretty focused on her. I’ll get my own ID bracelet at some point, but after we get the little zebra all taken care of. I am, however, going to have to start taking better care of me so I can be around to take care of everyone else.

She’s also referring my zebra back to OT. Not twice a week like PT, but every 2-3 months to make sure her daily routine at home is working, what she needs, etc. She’s also telling them to get her finger splints.

Last but not least, she’s sending her to Pediatric Pain Management. She said she didn’t want anyone, even well-meaning, sending her to just any pain clinic that will write her a script for opioids. She wants them to know her, her pain, history, etc. so that we have a solid plan in place.

She also told her to go ahead with Melatonin, the right dosing, and asked her about school and what she wanted to be when she grew up. Did I mention we loved her? *sighs*.


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