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Genomics Gets Personal, Part 1: Ten Questions with Lilly Grossman

by
Lilly Grossman
| Jul 06, 2015

My name is Lilly Grossman and I’ve just graduated from high school. I have been an intern at Illumina since March 2014, working with Internal Communications and now with Social Media/Public Relations. In 2012, I was enrolled in a study at Scripps, where they were sequencing entire genomes of undiagnosed patients like me to help find a possible diagnosis and/or treatment. The results showed that I have two gene mutations that might have caused my symptoms: DOCK3 (responsible for my muscle weakness) and ADCY5 (responsible for my seizure-like tremors at night). The ADCY5 mutation has a treatment, which is currently working, but DOCK3 does not have a treatment yet.

As someone who is searching for a treatment, it is important to get my story out there in the world, so that if a scientist happens to be studying one of my mutations, they might be able to help. That is what I hope to accomplish in the blog posts that I write, as well as just letting the reader get to know me as a person. So without further ado, here are the questions and my answers!

1.      Q: What is your motto?

A: My motto is “Live, laugh, love” because I believe in living, laughing, and loving as much as possible. It’s as simple as that.

2.      Q: What achievement are you most proud of?

A: This past June, I received my Girl Scout Gold Award. The Girl Scout Gold Award is equivalent of the Eagle Scout in Boy Scouts. Out of all of San Diego County, there were only 44 girls that received the award. My project was to implement a safety plan that incorporated the physically disabled students of my high school, as well as a way to evacuate them off the second floor in an emergency.

3.      Q: What are you passionate about?

A: I am passionate about many different things. What I am most passionate about, however, is writing. I love writing because it “evens out the playing field” in a way between my classmates and me. Since it’s hard for me to talk sometimes, it’s easier to type out what I want to say on my computer or cell phone, instead of verbally saying it. Through my writing, it helps my classmates realize, “Oh! Lilly’s smart!” or “Lilly has an awesome sense of humor!” or something to that extent. I was a “Features” Page Editor for the school newspaper, in addition to being the Writing Editor of the yearbook. I’ve even written and self-published two fictional books, (available here and here). In college, I plan on majoring in English, Creative Writing, or English with an emphasis in Creative Writing, depending on which school has what programs available.

4.      Q: What do you wish people knew about you?

A: I wish people (especially most of my schoolmates) understood that just because I’m in a wheelchair, that doesn’t mean I can’t comprehend anything. I mean, I’m in all general education and even some advanced classes, and sometimes they still don’t get it. *sighs* Oh, the joys of high school. :P

5.      Q: How has knowing about your genome helped you?

A: Knowing about my genome has given me a sense of hope. Thanks to the sequencing, I can expect to live a normal life expectancy because I learned that I don’t have mitochondrial disease. I know I will go to college, and get a job. I can also expect a cure someday.

6.      Q: Why do you want everyone to get sequenced?

A: I want everyone to get sequenced because the more data available for research, the more likely it will be used to find possible treatments. I also don’t want anyone else to go through what I’ve gone through. If, for example, a baby was born today and got sequenced and the results were the same as mine, the parents of that baby would know that they aren’t alone. The parents would know that there is a support group trying to find answers as well.

7.      Q: How do you think your life would be different if you had been sequenced as a baby?

A: If I had been sequenced as a baby, I wouldn’t have had to have been poked, prodded, and punctured as much as I have in my life. I wouldn’t have had to have a muscle and nerve biopsy that left a finger-length scar on my thigh (muscle) and back of my shin (nerve). My parents wouldn’t have had to take me all over the United States to see over forty five of the country’s “best” doctors and specialists.

8.      Q: What is your biggest physical challenge?

A: My biggest physical challenge is not being able to drive a car. When I see all my friends are driving themselves around, it’s kind of embarrassing having to have my mom take me everywhere. Well, not “embarrassing,” but you know what I mean. It’s just annoying because it limits my independence.

9.      Q: What is your biggest mental challenge?

A: My biggest mental challenge is that my mind moves so much faster than my body does. It’s frustrating knowing you want to do something that you really want to do, but not being able to physically do it.

10.  Q: Where do you see yourself in ten years?

A: I don’t want to jinx it. ;)

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