A year ago, I was asked to bring my children to a medical meeting to participate in grand rounds. It was…unfulfilling, shall we say?
Fast forward to January. In the course of starting this blog, we have met quite a few new families, and while I feel that I am pretty confident in answering general questions, sometimes I need to draw on medical resources to help families find the support that they need. Rachel and I are not medical professionals, nor do we try to fill that role. So anyway, a situation arose where I had to contact Dr. Sherri Bale, the co-founder and head of GeneDX in Gaithersburg, Maryland. Within the ichthyosis community, GeneDX is known for conducting genetic tests for a large variety of rare disorders, including the entire spectrum of the ichthyoses and epidermolysis bullosae. Dr. Bale and her Chief Medical Officer, Dr. Gabriele Richard, are very active in ichthyosis research and with FIRST, the Foundation for Ichthyosis and Related Skin Types.
I emailed Dr. Bale, got the answers I needed, and got back to the overseas family who had sought me out. Dr. Bale and I ended up messaging back and forth for a bit, just generally catching up. She soon realized that we had moved to the East Coast corridor since we had last seen her. Once she realized how close we were, she invited us out to the office to do a presentation for the staff. Close, in this case, means a 3 hour drive each way.
Sure, I said. That would be great! We scheduled the presentation for an early February afternoon, and we were off!
The GeneDX office is located in an unassuming office park in the suburbs, and we had to hunt around a bit to find the correct building and door. We signed in and followed the office manager back to a very large break and meeting room. Momo had his favorite blanket, a juice box and a fully charged tablet stocked with Angry Birds and Fruit Ninja, and I plunked him down in a corner with the sound on the tablet turned off. He was great. Most of the people didn’t even know he was there until I picked him up at the end. (We arranged for our other three to spend time with friends after school.)
GeneDX delivered a big crowd. We had been told to expect around 40 people — a mix of doctors and geneticists and lab techs, but also lay people like secretaries and billing accountants who didn’t necessarily have a lot of technical background – but the entire room was full and the staff had brought in extra chairs and were standing all along the walls in this huge room. Eyeballing the crowd, we think there were over 100 people waiting to hear us.
Rachel’s a really good speaker, and has been very open and matter of fact about her recent change in appearance. We included a wedding photo from 13 years ago and Rachel made a crack about how we’ve changed over the years. “I know it’s hard to tell, but Jennifer’s hair is a lot shorter now.” You could see the crowd do a double take at her strikingly different appearance then and now and compare it to her words, which were about me. The audience chuckled.
Overwhelmingly, it was a great experience. We weren’t a specimen. We were people, with a real story to tell. They followed us through Rachel’s childhood diagnosis, our wedding and genetic counseling, laughed at our insane cream closet, cringed at our injuries and marveled at our use of a power tool for skin care. And simultaneously, they learned a bit about the physiology of what we were dealing with. When we showed them a birth picture of Cookie, their hearts broke the same way ours did when he was born. The audience followed us then down the path to our current diagnosis.
Dr. Bale was actually the first person to realize that we had ichthyosis-en-confetti. When I mentioned that Dr. Bale was the right key in our lock, her staff interrupted to applaud her. I was really thrilled that her entire staff got to see how much of an impact their boss had on our family. One thing about lab work is that it tends to become a process of churning out samples, and it’s hard to connect the lab results to the families who might have provided the samples. This was the whole reason we had been invited in the first place, and I think this one moment really drove it home.
We really enjoyed visiting GeneDX. The staff was wonderful and welcoming and seemed to enjoy hearing our story. The work they do impacts our lives every day. We think we made an impact on them, too.
