The Colorful Ties and the Genomes Inside

It happened. Finally. Hours after morning coffee, I signed several papers and a nurse drew blood. Within three months, I'll receive the results of my genome sequencing.

It's exciting and scary.

Since the science is new, there's a chance the Emory Genetics Lab technicians will study my genes and still be unable to determine an accurate source of my physical oddness. On the other hand, clarity would be very beneficial for me, my boys, and perhaps even others in my family. For instance, if a mitochondrial defect is found in the actual mitochondria of the cell (instead of the cell nucleus) then my boys won't pass this disease onto their children.   

Regardless, something just isn't normal in my body, yet doctors continue to argue about the diagnostic criteria for mitochondrial disease. So even though I served as the face for adult onset mito disease on a web site years ago, my neurologist now questions the hundred page muscle biopsy report. 

It's exhausting.

Products by Reliv and Plexus increased my energy levels this year, but I still required wheelchair assistance to make it through our weekend trip to a family reunion just outside of Philly. It didn't help that we ate on the third floor of beautiful restaurant, called Ariano, the first night. But the atmosphere, company, and food made the climb worthwhile.

Perched high in the loft, I visited with family I hadn't seen in over ten years. We don't talk on the phone, and only recently became FB friends. But visiting with them felt strangely comforting.

They are a part of me, like my DNA. They carry a similar genetic coding and have been in my life, whether near or far, since day one. Over the span of at least thirty years, we made a host of memories, visiting my grandparents in this house, high on hill, only a quarter mile from Ridley Creek State Park.

After Sunday lunch in their retirement home ten minutes away, we drove to the park where cousins, aunts, and uncles strolled the familiar path. Much to my dismay, my 71 year old mom had to push me in a wheelchair.

Cousin Christy, Mom, Me, Aunt Barb

To my right, Aunt Becky pushed Grandma in her own wheelchair while everyone else kept pace.

The Gang!

We passed the familiar waterfall.

And took in the lush green.

Some jumped with joy.

Christy and Michelle

Others relished solitude.

Steven

And Nora made new friends.

Katrina and Nora!

Nathan and Nora!

We played some crazy games of UNO and I learned that my family didn't invent the House Rules, although we take great pride in the chaos they bring to the game.

Christy, Karen, Tom, Jennifer, Barb

Grandma and Jennifer

Cut from the same cloth, our differences faded. Familiar voices, crazy stories, and well worn paths allowed me to touch base with a part of who I am that I tend to ignore. And I liked it. 


Grandma fell again the day after we left and Grandpa may not even remember we came. But gathering to see them once more offered a gentle reminder:

The ties that bind really matter. Just like learning about my genetic make up.

After hugging everyone goodbye, I waited at an elevator. When the doors opened, a startled security guard saw at my red walker and blurted, "Wheelchair? No... walker."

Aware of his concern I offered, "Don't worry. It's mine. I have a neuro-muscular illness."

"Oh," he continued, "You're too young for a walker. For a minute there I thought you'd stolen it."

When the (retirement center) elevator doors shut me inside alone, I heartily laughed out loud. Adventures follow me and my red walker, but this was a new one.

A granny walker thief I am not.

But if I have a life of walker confusion ahead, I sure do hope these labs test tell us why. It will be nice if the answers make travel to next years reunion a little easier. But perhaps the answers will just settle something in me. 

Either way, it's time; time to reconnect with family and dig deep into my DNA.  

And for my family... a perfect reunion ending song.

photo credit: Tasses - portraits via photopin (license)
photo credit: All reunion photos via Nathan Schreer

(c) 2015