Monday, April 07, 2014

Think I'll go to Nashville- ACMG 2014

For those living under a rock, Owen and I were in Nashville a couple weeks ago, for 

the annual American College of Medical Genetics Conference. YEEHAW!

a.k.a. A vacation. So nerdy right? A week of genetics, and consumer engagement, 

and we count it as vacation. Well, I can’t remember the last time I traveled 

anywhere for almost 7 days, I took time off, and figured we might as well make the most of it! 

And we did! I didn’t have high expectations, because it was a genetics conference, 

but it really turned out to be the perfect balance of “work hard, play hard,” which I 

feel like I am only now beginning to master at conferences!

This was the first conference in a long time where I felt like I really gained from 

attending. The last couple of years, have been spent flitting in and out to present, 

listening to the same old workshops, that I could basically recite in my sleep. While 

I love presenting, and we did present at this conference as well, it was so refreshing 

to LEARN! We learned, we laughed until it hurt, we thought until it hurt, and we made friends! 

One of the things I realized contributed to what I got out of this event, and probably 

what I gave as well was that, for the first time in many years, I felt like I was there 

as ME. For the first time, I introduced myself at a meeting with all of my roles- a 

student, a LEND fellow, my day job, a consultant on a national center, a program 

coordinator for Next Step, and a young adult living with a genetic condition. 


And at that moment, I felt this sort of weight be lifted from my shoulders for the 


I can’t really explain it, except it was just liberating! Being able to share my thoughts 

without worrying about “representing” anyone, even though I was representing 

everyone- I was invited as a consumer, and they wanted me there for ME.

The first day, we attended a meeting of the national transition work group, which is 

comprised of the people all over the country doing the REAL work for young people 

with genetic conditions who are in the process of transition. It was the best meeting 

I think I have ever participated in. The time was well managed, everyone was 

acknowledged and respected, ideas were shared, and we left with action steps for a 

national project that stemmed from our ideas! ….a potential practicum, hmmm… It 

was just dynamic.

The next day I had a long day in a meeting for the regional genetics advisory I’m on, 

reviewing mini grant proposals (love, love love, such a geek) Then we presented on 

panel for a “Community Conversation,” with some incredible providers who have 

done great work in transition and positive youth development. We talked about the 

impact of programs like Face Forward, and our own experiences just living the life. 

Some of the questions got pretty intense, but I love it. This conference was a collage 

of all the things that I DO love about this work, as messy as it can be.

One thing that I think neither of us really expected from this event was how 

“affected” we felt by the whole thing. Genetics is really emotional shit. Ethically, 

spiritually, economically, just. There was a lot of processing and napping.

And the exhibit hall. First of all, this is a conference for providers. And Companies. 

Which means serious budgets for ridiculous exhibits. 

Owen and I walked in and realized we had just stepped from District 12 into the 

Capitol. There is no other way to describe it.

All of these booths advertising products, and methods, and tests… to prevent 

“errors.” “Mutations.” “Tragedies.”


I know, I know… it is not mal-intended at all, and these people were kind, and many 

of them spoke to us, and some really took the time to teach about different screening 

processes and I learned a lot. But something I found really interesting was the 

initial question we got was when we were browsing exhibits and networking was 

“Do you work in a lab?” or “Are you a genetic counselor?” which I thought was 

funny, because we felt like we stuck out like a couple of sore thumbs at risk for 

possible elimination if we weren’t too careful, but everyone else just knew we had a 

reason to be there. It was like odd, reverse role assumption….

But I just responded confidently “No, we’re in the consumer leader’s program, trying 

to learn all we can to better advocate on behalf of youth and families living with 

genetic conditions.”

But I sort of wanted to say, “haha, actually, we’re what you’re trying to avoid… “

Super awkward right?


Nobody wants to sit here and read how I feel about all the issues of genetic testing, 

newborn screening, and the ethics behind reproductive “technology,” and frankly, I 

am still sorting through it all, and figuring out HOW I feel about it. Perhaps it is one 

of those things I will never really know. I do know that I was a strong advocate of 

recognizing that for many people living with genetic conditions, it is about quality 

of life, not finding a cure, and that needs to be recognized. An advance in medical 

treatment may not be the best answer for all people. I’m a fan of technology and 

scientific advancements, but I will not sit home refreshing the interwebz waiting for 

a cure, or something that might remove my disease but sacrifice my quality of life. 

Mama’s got shit to do.

The other time my mind was a tiny bit blown was when I attended a session about 

pregnancy for women with skeletal conditions. It wasn’t until the presenter 

mentioned my bone condition, which I totally forgot even had a name, because 

nobody knows about it (except, upon further research, Danny Devito has it as 

well- DANNY DEVITO, I LOVE YOUR WORK) that I was like “oh man, this just got 

relevant.” At all the events where I feel like I don’t have a “group,” I realized… 

perhaps… this is my group!!! And I felt that way all week!

I may or may not be plotting a poster abstract about MID (Microvillous Inclusion 

Disease) and the research that is currently being done, just to get our name on the 


Aside from that. Here are some more lighthearted things I learned on my 

GeneticsCation in Nashville:

• Tomatoes are just better green and fried.

• Smokey whiskey bloody marys. Yup.

• Line dancing should happen whenever possible.

• South does not = warmer weather. 

• I’m obsessed with the Omni Nashville hotel, and will be returning to use the 

roof top infinity pool (check out my full review here)

• There is a laid back country girl in this complicated Gemini who felt at peace 

and relaxed for the first time in a long time.

• I know more than I think I do. Someone said to me at the conference- “You 

know, you are really smart.” And it was nice to hear. Sometimes I just feel 

tired and defeated…

• Genetic Screening companies have sweet conference swag! Tote bags that 

zip? Plastic sperms? G-gnomes. Hook me up.

And the final thing I learned after a week in Nashville was that Owen rocks, and we are an amazing team. We  had such an incredible week- as colleagues, as best friends, as partners. Sharing 

our story in different settings, both networking for our own paths, learning about 

country music (me getting’ schooled)… and being able to process all of this together. 

Truthfully, had I gone to this event by myself, I probably just would have sat in the 

hotel staring straight ahead, feeling completely overwhelmed. But with each other, 

we were able to strike a balance, and know when it was time to step away and have 

some fun, and when we needed to debrief.

It was just awesome. Nashville, and the genetics world. You have not seen the last 

of us.

1 comment:

Anonymous said...

Line dancing - yes. Fried green tomatoes - no. Big feelings about genetic testing and being part of a group - yes.

Thank you so much for this run down.