1p36 Deletion Syndrome

Knowing too Much: Sometimes Ignorance Really is Bliss

IMG_7292The past few days have been full of deep-seeded joy for me. A time of hope and laughter, where worry for the future has not hung over me like an ever-present cloud.  A time where I have caught a glimpse of my old self again. Granted, I’ll never be as care-free as I was before I became a Mom. But I’ve been able to throw my head back and laugh. To make jokes and reply with (semi) witty comebacks. To be excited about upcoming get-togethers with friends and family, and to actually plan for more than just the day in front of me. To think about the future without a pit it my stomach. It’s like I’ve allowed the part of my mind that is usually focused on Maddie’s 1p36 diagnosis to focus instead on the present moment. It’s been super refreshing. Continue reading “Knowing too Much: Sometimes Ignorance Really is Bliss”

Celebrations, Vacation

Our Asheville (Un)Vacation

FullSizeRender 2A few weeks ago we took our first “solo” family vacation- just the three of us. We decided to take a road trip to Asheville, North Carolina. The Biltmore, America’s largest privately owned home, put the town on the map- but its food and art scene have recently made it a vacation hot spot for many.

Nate and I have been talking about going for a while, and it seemed like a great option for us this summer. It had everything we were looking for:

Reasonable drive time? 

Restaurants? √√

Shopping? √√√

To this point Maddie has been a fairly easy traveler. We frequently do a five hour road trip to visit our family in Michigan, so six hours to Asheville didn’t seem like too much of a stretch. Typically, as long as we keep the car moving, have a warm bottle readily available, and a comfortable place for her to sleep, we’re good to go.

That was not the case this trip.

It seems that our 19-month-old Miss Maddie takes on more and more toddler characteristics every day. I’m laughing to myself as I write this blog- sometimes I focus on topics that are more unique to our family as one with special needs. But I’m happy to report that our adventures in traveling with a toddler were no different than that of a ‘typical’ family (i.e.- a little messy and not super relaxing).

Continue reading “Our Asheville (Un)Vacation”

1p36 Deletion Syndrome, Conditions & Treatments, Coping, Faith

The Call

Monday, July 25, 2016

I was driving back to the office after running errands over lunch. I’d just hung up the phone with a nurse from Cincinnati Children’s Hospital, who had called to discuss details of Maddie’s upcoming heart surgery. I laughed to myself as I looked down at my phone, and saw the familiar Children’s phone number pop up once again. “She must’ve forgotten something,” I thought.

“Hello, again,” I answered.

But it wasn’t the same nurse who I’d just spoken with moments earlier. Instead, it was the genetic counselor who had been assigned to our family’s case. Maddie was diagnosed with Epilepsy in March, and since that time we’d been awaiting complete results of genetic testing to determine the cause of the seizures. We’d gone through two rounds of testing thus far, and no genetic “matches” had been found (a match would indicate a cause). Based on what they knew about Maddie, they’d explored the most likely causes first. The last time we’d spoken with the counselor she was doubtful that we’d find a cause. Sometimes seizures just happen. In some ways, I was hopeful for an answer. But in other ways, no cause was a relief- we could hope that these seizures were an isolated incident that she would outgrow.

Continue reading “The Call”