Everyone expects to have "normal life expectancy." I know I did. I always thought I'd grow up to do the same type of things my friends and fellow peers would accomplish. Graduating from high school, going to college, getting a job and starting a family was what I always expected myself to do. Until tenth grade, however, I didn't know that I wasn't expected to do those things. Now, I know I am.

When I was a baby, my mom noticed that I wasn't reaching any of my milestones (crawling, pulling myself up, sitting, and so on). That was when I was about 9 months old. She took me to the doctor's and they did the Denver Study, which is a checklist of milestones.

The results? Normal.

That test became the first of many tests showing that my mom was just being paranoid and I was going to walk any day now. Yeah, right.

At 1-year-old, I could walk while holding onto furniture, but not on my own. When I would fall, I would literally fall over like a stiff board. When I sat, I would roll onto my back to look at a book or toy. According to my mom, I was "an excellent roller."

My mom took me to see her physical therapist friend when I was 17 months old. The friend had a 9-month-old who was running circles around me...in socks...on slippery books! When my mom saw that, she was positive something wasn't right. Since my mom was unable to schedule an MRI for me, her PT friend called to say, "Look, I've seen this kid with my own two eyes and she needs an MRI, as well as a neurology appointment."

The MRI results? Normal.

As for the neurology appointment, it ended with the neurologist telling my mom, "Reschedule for the last appointment of the day. Oh, and could you bring your husband next time?"

There was no "next time."

When I was two, I was diagnosed with cerebral palsy (CP) because they didn't know what else to call my condition.

That diagnosis? False.

By that time, my parents had started taking me all across the country to see doctors and specialists. We went to Baylor in Texas, Mary Hitchcock/Dartmouth, Columbia University, Johns Hopkins and even alternative weirdos. I saw 45+ of the country's "best" doctors by the time I was 8 years old.

And each doctor would just shrug their shoulders.

From the age of three until 15, I was diagnosed with mitochondrial disease. About 80 percent of mitochondrial disease patients don't live past their twenties. They start regressing mentally and physically during their pre-teen and teenage years.

When I was eight, my family moved from Cleveland, Ohio to San Diego, California. My parents figured that, by moving to a place with an average, year-round temperature of 72 degrees and no snow, I could be outside and enjoying life. I am very temperature sensitive, so if it got above 72 degrees during the summer, I would become extremely lethargic. In addition, using a walker or wheelchair in the snow was just impossible. Therefore, in Ohio, I was inside 10 out of 12 months of the year because it was either too hot or too cold. Another thing that drew us to San Diego was the growing hub of biotech and medical industries in the area. Those industries have proven to be monumental in my medical odyssey.

In the years that have followed moving to San Diego, I've thrived academically and socially. I attended Torrey Pines Elementary School (2005-2008), Muirlands Middle School (2008-2011) and La Jolla High School (2011-2015). To me, school has always been my equalizer. School was the one place I felt like I could surpass my peers without needing to physically surpass them. I was in all regular education classes throughout my K-12 years and took advanced, Honors and even AP courses.

In high school, I was on the school newspaper for three years and sang in the Choral Jazz Ensemble for one year. My senior year I was voted Homecoming Queen. Outside of school, I was involved in National Charity League and Girl Scouts. I earned my Girl Scout Gold Award for implementing a safety plan that incorporated the physically disabled at my high school, as well as a way to evacuate them from the second floor in an emergency. In addition to community service, I have a passion for writing. Over the past two years, I have even written and self-published two fictional novels with my best friend that are available on Amazon.

During this time, however, I continued to progress mentally and physically when most mitochondrial disease patients would be at their worst. Eventually, I just didn't "fit the mold" anymore.

In ninth grade, I was enrolled in a study at Scripps Translational Sciences Institute, where they were sequencing entire genomes of undiagnosed patients to help find a possible diagnosis and/or treatment. What the results of the sequencing revealed was that I didn't have mitochondrial disease after all. I actually have two gene mutations called DOCK3 and ADCY5 that cause my various symptoms. With that conclusion now known, I'm expected to live a normal life expectancy.

Although the DOCK3 mutation is said to cause my overall muscle weakness, I inherited it from my mom, who doesn't show any symptoms. We are also the only two people in the world known to have this gene mutation. That being said, the ADCY5 mutation has taken the forefront in my family's researching focus.

The ADCY5 mutation can cause seizure-like tremors, as well as some weakness. My tremors (or what I call "shaking") started when I was 4 years old. When I shook, it looked like a full-blown seizure. Only it wasn't a "seizure" because I would be completely aware during it. It was like an intense, full body muscle spasm that could last anywhere from thirty seconds to five minutes and sometimes occurred as often as every 15 minutes. I tried taking various anti-seizure medications and sedatives. Nothing had worked. They would always be at their worse during the nighttime and I would be screaming and crying in pain while one of my parents held me. Needless to say, no one in my family slept for about 12 years.

That's right. 12 years.

And through all of that, I managed to learn to make the best of things and be a positive person. Even when it felt like nobody could hear my screams at night, I was able to get up and go to school with a smile on my face. I have some really amazing friends and family to thank for that ability.

It's been three years since I got the results from the sequencing. After we found out, I started taking a medication that made me sleep all night for the first time since I was four and that lasted for about two weeks. We tried adjusting the dose and added some things, but nothing worked. It wasn't perfect, however, it was better.

Last summer though, it got worse and I ended up having to be put in the hospital because I was not sleeping at all. They put an IV in and pumped me full of sleeping medication. The first night I slept for four hours, the second night I slept six. I went home with the tablet version of the medication and I slept without any shaking for six months.

And then the college admission decisions started coming out and I stopped sleeping.

When I was in the hospital, my doctor prescribed me an orphan drug that is known to work on the pathway of the ADCY5 mutation. After I got out of the hospital, I was sleeping and no one wanted to mess it up, so we just saved the prescription. When I stopped sleeping, we tried it.

It worked for a total of seven months and three days: the longest stretch of sleep I'd gotten in 14 years.

We aren't sure what made the shaking come back. In September, I started college. I was two hours away from home and living on-campus. This was a big change for me. Midterms happened to be going on right around the time I stopped sleeping, which were in October. Stress has always seemed to be a factor in how well I sleep, as it would affect any other person. The odd thing about it was that I didn't feel stressed, but obviously, my body thought otherwise.

Shaking in college had always been my main fear if I was to go away to school. When I started school, I had been sleeping for five months, so I felt comfortable being away from home. When the shaking returned, however, I came home a lot and even had a brief hospital stint in order to try to "reset" my system during the second half of my first college semester. Needless to say, I missed a lot of classes and material being taught. I did my best to keep up with my assignments and am quite pleased with my final grades, considering the situation I was in.

Since my diagnosis, my family has become the pioneer in getting the ADCY5 name out there into the world. I was the second person diagnosed with the ADCY5 mutation. Three years later, there are now over 70 patients (and counting) known worldwide with ADCY5. We are currently in contact with about 10 of those families.

My family has undoubtedly been through a lot. The reason we share our story as much as we do is because we don't want anyone else to have to go through what we went through. If there's a little baby somewhere who isn't reaching any of his or her physical milestones and their doctors are saying, "Nothing's wrong. You're just being a paranoid mother," to the mother, we want to have resources and a community for that family.

Genome sequencing has changed my family's life. It has given us hope. Hope for the future, as well as hope for a treatment. For a family like mine and others like mine, hope is absolutely everything.