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”

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”

1p36 Deletion Syndrome, Coping, Faith

Everyday Miracles

For my first post, I’d like to share a brief snapshot from the past year, which explains the name of the blog. Although I’m starting on a high note, and my hope is to keep the overall content ocropped-unknown-7.jpegf the blog positive, please know that I will not white wash anything. Part of my goal in sharing these experiences is to encourage other families that they are not alone. And without honesty,  genuine connections can’t be made. Cheers to being real and looking for the best in every situation!

On July 25, 2016, Maddie was diagnosed with a genetic condition called 1p36, which is a type of chromosome deletion. It’s a fairly rare condition, and was discovered through genetic testing that we underwent after we found that she is Epileptic. She was eight months old, and up to that point we’d had no reason to think that she might have  developmental issues. But with this diagnosis came a long list of predictions for her future. Everything from eyesight and hearing loss, to physical and mental limitations. With one phone call our lives were turned upside down. I felt like I didn’t know my own baby. To say that we were devastated would be an understatement. Continue reading “Everyday Miracles”