Dr. Elsea’s lab evaluated mice that were born with the same rare syndrome as my son.
Smith-Magenis Syndrome (SMS) is caused by a deletion of genes within the 17th chromosome.
In some cases, one single gene is mutated.
I had met other people with SMS and witnessed the similarities: facial features that include a flattened mid-face with wide set eyes, behaviors like explosive outbursts and self injury, and a severe sleep disturbance that causes nighttime awakenings and daytime napping.
But, what would SMS look like in the mouse world?
“Do you think the SMS mouse is sneaking into his sister’s nest at 2am and taking her video games?” I asked my husband.
“Or maybe, he has a little mouse meltdown when the momma mouse turns off his Barney video.”
Apparently, my husband did not find my questions nearly as amusing as I did. He tried to shush me, but I was on a roll.
“Do you think the SMS mouse slaps his head with his mouse paws when the momma mouse fires up the blender for a much needed Adult Mouse Beverage?” He gave me a dirty look. “Don’t judge. She has a whole litter of babies and one of them has SMS!”
When Dr. Elsea began her presentation, I learned that her lab found many similarities between the SMS mice and the human SMS population.
Features: The SMS mouse had a shorter snout when compared to his siblings.
Weight Gain: They found that the mice born with SMS had more body fat and higher cholesterol levels when compared to their siblings.
Obesity is a common problem in the SMS population.
Sleep: The SMS mice had trouble falling asleep and staying asleep.
Behavior: SMS mice were not slapping their heads or crying over T.V. shows, but the researchers had a way to test for dominance. They placed two mice inside opposite ends of a plastic tube.
A SMS mouse would face a typical mouse and the researchers would wait to see which mouse forced the other one to walk backwards. Apparently, mice do not like walking backwards.
(I have noticed that mice run in panicked circles when I’m standing on a kitchen chair and screaming, “There’s a mouse! There’s a mouse!”)
Dr. Elsea shared with the group that not a single SMS mouse went backwards in this experiment. That’s so like our stubborn kids and she got a loud round of applause from the parents in the audience.
As she went on, I found some of the material a little heartbreaking.
Pain Tolerance: The researchers placed all the mice on a hot plate and slowly turned up the heat. The typical mice jumped off the plate before they were burned; however, the SMS mice did not.
My son has a very high pain tolerance. It seems like a blessing (because who wants to feel pain?), but pain is what keeps children from hurting themselves.
Garrett has picked his skin, torn off a fingernail and burned his hand on the stove. It makes sense that the same thing would happen with the SMS mouse.
Still, as a mom, I found it a little sobering.
But, when Dr. Sarah Elsea got to the final piece, it completely changed the way I viewed my son’s disability.
Star Gazing Seizures: Dr. Elsea played video footage of a SMS mouse running around in its cage when suddenly; he was startled by someone knocking on the glass.
I saw the mouse stop in mid-motion, look up and freeze for 3 or 4 seconds. Dr. Elsea called it a star gazing seizure.
I was out of mouse jokes.
Instead, my mind played back the times Garrett cried when I fired up the blender… or when the church organ began to play… or when the lawn mower roared by the window. We called it Freaking Out.
Certain sounds, not necessarily loud sounds, would also cause Garrett to Freak Out: sounds like Velcro straps ripping, the fizzing noise from a soda can or water being squeezed out of a cloth.
Garrett just stopped whatever he was doing… stood straight up…tilted his head back and screamed at the top of his lungs. His arms would flail out; either hitting himself or people/objects around him.
In the daily tasks of parenting a SMS child, I am constantly trying to stop him from hitting other people, hurting himself or breaking everything around him.
Garrett’s “fight or flight” response spikes and my “keep-things-calm-at-all-costs” reaction takes over. I often write about those days.
I talk about how hard it is to parent a child with Smith-Magenis syndrome. And it is.
But I don’t spend time thinking about how these explosions must feel for Garrett and I was shaken by the photo of a “star gazing” mouse projected on the screen.
I can only imagine that these genetically driven behaviors which start at the most basic, cellular level must be ten times harder for him than it is for me.
My heart filled with empathy for my son.