About the Genome Study

January 1, 2012:

As most of my close friends probably know, I am in a study at Scripps to get my entire genome mapped. A little cool fact: I will be one of the first people in San Diego to get my genes mapped AND it’s the first genome study where parents are in it (the others all required siblings). Here are the details about how they map genes:

First, the people running the study had to choose who’d be eligible to get theirs mapped. Scripps had the funding to map six people’s genome. But guess how many they ended up picking. ONE! And that one was ME!! Why was I the only one picked? That is because I was the only one who has had every single test out there at the moment and I still am undiagnosed. Now most of you guys are probably thinking “Wait I thought you had Mitochondrial Disease.” We did too! But recently I haven’t been showing the regression of most Mito patients. I keep progressing! And every test comes back NORMAL. So this study is kind of our last “push” (for now) to figure me out.

Anyways after they notified us about the study, we had to wait to say anything on Facebook until the official letter was ready. We could tell our close friends but just not everyone in the world quite yet! So we did. The letter came about a month later (even though they said it would take two weeks). After the letter came, we were able to our share news with everybody.

Then we had to give our blood to them. My parents and I gave four tubes each! After that, the people at Scripps “prep” the blood before it gets sent to San Francisco, where the blood gets put through a computer. Cells hold DNA and they have the same DNA in each cell. The people at Scripps “prep” it by pulling out the DNA and then they take pictures of it. We all have four letters that make up us: A, T, C, and P. Each letter gets color-coded. For example, A would be yellow or C would be green.

A human being has three billion pairs of letters that make up our DNA. My entire genome will have its own hard drive which equals 300GB – the equivalent of not one, not two, but three Mac computers! My genes will be sequenced 40 times over a course of 10 days (6 hours for each sequence). After the sequencing is complete, they send my hard drive (along with both of my parents’ hardrives) back to Scripps so the scientists can begin analyzing and comparing my genome to my parents but also a “reference genome”. A “reference genome” is basically like Lewis and Clark’s map: very general and not very detailed. They use a “reference genome” to see what most people have and if it’s different in mine, they’ll look closer at that one. For example in position 1 chromosome 3, most people have C but I have A. So they note that difference and once they find every difference, they go back and study it more. They also know to look for specific things such as muscle weakness and metabolism issues. There will be 100 processers with just my genome running over 3 days, as well as scientists analyzing it manually.

Our ultimate hope for this study is to figure me out and cure me. But we also know that there is a small chance they won’t find anything. Luckily though Scripps will keep my records for twenty years so that if they find out any new information, they will try again. And they will keep trying until they figure me out.

August 3, 2012:

My genome came back!!!

And it said I have two abnormal genes! The first abnormal gene is responsible for shaking. There has been one other family studied that has shaking symptoms. They were given two drugs to try and treat them. One drug helped some family members, the other drug helped with the others. However, some family members were not helped with either drug.

The second abnormal gene is affected in two places. My mom has one of those affected places as well (gee, thanks Mom :P). The second gene is responsible for balance and muscle weakness. It affects how messages travel through the body. I am the first person to have their genome sequenced with this gene affected and symptoms like this. There is a lab studying this gene in mice. There is no known treatment…yet.

The doctors have given my parents a clear plan to decrease my current anti-shaking medications I am taking so we can start the new anti-shaking medication. It will take a month to get me off the current medications. We have more tests to do and it will take many months to do them.

I am so happy that my genome didn’t come back all normal and say nothing is wrong. These next few months will be very interesting. Hopefully, we will get more and more answers in the next few months. And if not answers, just information that will help us try and figure me out!

7 thoughts on “About the Genome Study

  1. Hey Lil! That sounds great! How’s life been in So Cal??? hahaha :) *jealous*
    guess who wants to come out this summerrr?! :))
    byee. <33

  2. Life’s good! :) I miss you. <3 :( I'll keep you updated since you don't have a Facebook yet. :-/ Keep checking back for updates :) LYLAS

  3. Lilly,
    Even though I am very familiar with your study from what your Mom has told me, your summary just gave me the chills. Not only is this very well written, I can truly sense the excitement and hope! One fact I did not know is that they’ll keep your info for 20 years – that is fantastic! Lilly, Bryce and I send you strength every night as we say our prayers before bed. Each night we say goodnight to our family and friends and wish everyone a peaceful night and a good day tomorrow.
    WE will see you soon!
    xoxo Laura

  4. Hiii!:) I miss you Lil! My phone’s been taken away for a while and I don’t get it back til November :( but as soon as I get it back I’ll text you!! That’s awesome about your genome thing, good luck with all of it! Hope to see you soon love<3

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