Game Over: Life's Over

Symptoms

The office we were told to wait in was pretty plain looking. There were pictures on the walls but none were personal photos. It seemed like it could be anyone's office, which was sort of depressing.

I was nervous to meet Dr. Simmons. I wasn't sure what she would be like or how easy she'd be to talk to. Doctors weren't typically nice people.

Mom seemed pretty relaxed but I couldn't tell if that was for my benefit or not. She had her phone with her, like she always did, and was messaging someone. I figured it was work-related.

It was always work related.

The door behind our chairs opened and I turned to see a tall woman enter the room. She shut the door behind her and walked around the desk.

This woman was tall and thin with long blonde hair. She wore a navy blouse tucked into some gray slacks. She took off a white jacket and draped it over the back of her chair before she faced Mom and me.

"I'm Dr. Simmons. You must be Lydia and Jacob. It's nice to finally meet you." She held out her hand.

Mom shook it and gave her a nod. "Likewise."

I looked at the doctor's hand before awkwardly shaking it. I hated handshakes.

"I understand that this is a challenging time for both of you right now. We have a bit to discuss today so I'd like to go ahead and get started." She sat down in her chair and grabbed a notepad from where it sat perfectly straight near her phone. She uncapped her pen and held it as if she were going to take notes. "This genetic mutation, Tay-Sachs Mutation1, is not known to be passed down from either parent. The person who carries this mutation can appear healthy or 'normal' as they age and develop throughout their life. It isn't until the age of eighteen that any changes, if any, begin to occur or become noticeable. Some with Tay-Sachs Mutation1 never develop symptoms, as we call them. They can continue through their lives with little disruption to a normal routine. Others notice symptoms as early as the day they turn eighteen. Known symptoms, more common symptoms, are a heightened emotional state caused by a hormonal imbalance, a decrease in brain development which can cause early Alzheimer's disease, incontinence, and a loss of calcium throughout the body. These symptoms vary from person to person depending on the progression of the mutation throughout the body. Like I said, some do not develop symptoms until much later in life, if ever, though it can begin early. That's something we will monitor here through quarterly visits as well as something you can monitor on your own as you go about your daily schedule."

I felt dizzy from all the information I'd received. Either that or because I had my blood taken. I already felt uneasy when we got to the building.

"What should we look out for that would tell us he is... developing symptoms?" Mom asked.

Dr. Simmons clasped her hands. "This may seem like a given but a heightened emotional state is something that can occur rather quickly. This can be caused by hormonal changes but could also just be a result of an awareness of the mutation. This is going to be a difficult time for both of you so don't assume any anger or sadness is a new behavior. It's common for people to take this news hard and lash out at those around them. What we recommend is looking for behaviors that last longer or seem different than what is normal. It may be hard to see at first so I suggest you talk with Jacob and check in with him regularly so you are aware of any noticeable changes to his behavior or attitude."

Mom nodded.

"Can you tell me what your daily schedule looks like?" She turned her attention to me.

"I, um... I wake up and go to school. When I come home, I usually just play video games until I go to bed."