Beginnings of a Mad Scientist

[Guest guest]

I thought some of the ladies and gents here might be interested in a project

my son is doing at the research lab for SMA at U of U. Here's my blog post

about it.

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Ethan goes to a school that has a " Winterim " program. In January, they

suspend regular classes and the kids choose and study one topic in depth for

two and a half weeks. This could be through the programs the school has set

up (they have one on aviation, one on interactive media, one on anatomy, one

where they do service work in Mexico, etc.) or it can be a project that the

student arranges, writes up a proposal and gets approval for.

When we knew this was coming Ethan and I talked about all the different

options and where his interests lie. I then asked Abby, the nurse who works

with Dr. Swoboda if there would possibly be something he could do with any

of the SMA researchers in Salt Lake. We got hooked up with Dr. Swoboda's

research associate, Kelley, at the School of Medicine and from there this

thing has just taken off.

Winterim began on Monday and the first day Ethan spent observing a child

with SMA hospitalized in the Intensive Care Unit.*trying to suppress a

little " tee hee hee " here.* He also did read up on the genetics of SMA

including being able to tell me how SMA was passed, which gene caused SMA,

what protein was lacking and what skin fibroblasts are.

Tuesday Abby (the nurse) and Kelley (the research associate) met us in

Tabitha's room to draw blood from Ethan and I and put numbing patches on our

arms in preparation for harvesting skin samples. We then trekked over to the

School of Medicine and met up with Dr. Swoboda who further numbed the area

of skin on our arms and harvested a skin sample about the size of a pencil

eraser from the inside of each of our arms. I watched Ethan's done without a

hitch. Watched the needle go in for numbing, watched the little circular

" punch " they use to separate the skin, watched the clipping and thought it

was all very cool. When it was my turn, I couldn't look, couldn't think

about it and had to stay seated for a few minutes afterwards to make sure I

was okay to stand. It's always been that way with me, I can watch procedures

on other people and think they're interesting, fascinating and amazing, but

I can't even think about getting a flu shot myself without getting cold

sweats.

Anyway, that day while I prepared Tabitha for discharge, Ethan headed over

to the " Swoboda Lab " in the Human Genetics building at the School of

Medicine to prepare the blood and skin samples.

Yesterday, when Ethan went up, he and Kelley separated out the proteins in

the blood, isolated the ones they wanted, put them in a stain and other

things that I can't remember right now.

Today I got to go up with Ethan and watch and participate in all that was

going on. If I had the chance to go to Disneyland or spend a week in this

lab, it would be a hard choice. It was fascinating from beginning to end.

Here are some of my favorite highlights:

-Discovering that they STILL use Taleah's skin fibroblasts and DNA for

research. Made me misty to think her legacy goes on in such a concrete and

beautiful way.

- Being told that Kelley is going to prepare a presentation on this project

for the FSMA researchers conference. Because this includes the DNA and

fibroblasts from three members of the same family (with one a carrier, one

with SMA and one completely free of SMA) it's something that hasn't been

presented on before. She said she'd include Ethan's name as a co-presenter.

How cool is that!

- Realizing what actually happens to those blood samples we've given over

and over again. Before this there was a big gap: Blood draw, blood in little

tubes .......... Results. Now I have concrete knowledge of some of what

happens with those samples.

- Okay, I'll admit, the spinning, black, circular doorway into the darkroom

was pretty awesome. I know, I'm easily amused.

- Getting a tour of the lab. You walk down the hall and find someone

researching the genetics of epilepsy, another researching the effects of

aging, another researching the genetic links of suicide, another researching

MS and this was ONE lab of many just on the 7th floor of one building at the

school of medicine. It awes me to think how many amazing things go on there

every single day.

- Hearing from Kelley how impressed she is with Ethan. She says she's

determined he will get the highest grade on HIS winterim. She's an excellent

teacher, he's an eager student, it's a great match.

Ethan will be working in the lab four days next week as well, I am hoping to

sneak up with him Tuesday and Thursday. This is the opportunity of a

lifetime.

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