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”

Coping, Development, Faith, Therapy

Why I can’t achieve for my child (and neither can you)

Like many women I know, I’m on the type A spectrum. I’m extremely focused and very goal oriented. I like to make lists and to have a game plan. My thinking is very linear and I’m all about finding efficiencies and developing a process to make things happen.

Most of the time in life these characteristics have served me well. I worked hard through high school and college, and graduated on time with (fairly) decent grades. I’ve worked hard in my career, and have progressed accordingly. I’ve even worked hard at relationships, and have found that when I put time and effort in, for the most part, they succeed.

Overall, in my life I have found that Knowledge + Hard work + Time = Achievement

But what happens when you’ve educated yourself, put in the work, have performed all tasks correctly, and things don’t go as planned? What if you work even harder and still don’t see progress? Does that make you a failure?

Continue reading “Why I can’t achieve for my child (and neither can you)”

Coping, Development, Faith

Lessons in Faith from Maddie

If you spend any time around church or studying the Bible, you’re familiar with the idea that God is our “heavenly Father.” There are many parallels that can be drawn between our heavenly Father and our earthly fathers, but the basic principles are that He loves us and calls us His children. And just like our earthly fathers, He provides for us and guides us.

Since I became a parent I have a much greater understanding of this comparison. The immediate and unconditional love that you feel for your child is like no other. Their needs come first. You want the best of everything for them, and you’ll do everything in your power to make it happen.

I recently had an interaction with Maddie that illustrated another parallel in these relationships that I’d never considered before…

Maddie is a picky eater. Sometimes she’s hesitant to try new foods, and even when we find foods that she likes, sometimes she refuses them. In addition, children with 1p36 often have a tough time gaining weight. We’re working with a nutritionist, and I’m ever-conscious of her daily calorie intake.

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“Why would you try to make me eat that, Mama?”-Maddie

Even though we try to make meal times a pleasant activity, we find ourselves sneaking food in, and from time-to-time, forcing it. Maddie has a way of refusing the food by buttoning her lips shut, turning her head to the side, and giving me a look that says “Why would you try to make me eat that, Mama? Why are you trying to hurt me?” Continue reading “Lessons in Faith from Maddie”

Coping, Heart Defects, Hospital Stays

Six Truths of a Long-Term Hospital Stay with your Little One

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During the first year of Maddie’s life we spent close to two months in the hospital. At different times, we were in the NICU, the cardiac ICU, on the neurology and cardiac inpatient floors, and we did an inpatient and outpatient stent for two different surgeries. Those days were some of the most challenging, confusing, exhausting days of my life. But we made it through, and we even managed to find moments of levity between the moments of stress and terror.

You learn the routine

We spent most our time at Cincinnati Children’s Hospital Medical Center (CCHMC). Like most hospitals, the doctors begin rounding early in the morning. CCHMC takes a multidisciplinary approach to care, and depending on your child’s condition, the team that rounds may have up to six clinicians or more. For instance, in the NICU each morning there was an attending physician, a nutritionist, a cardiologist, etc. Most days we would know what time the team started rounding, but we would never know exactly when they were coming to see us. Although we were always eager to speak with the doctors, we quickly learned that the later in the morning the team stopped by (and the smaller the team), the less serious the patient’s condition. For instance, on our first day on the neurology floor after
Maddie’s seizures began, we had a huge team of doctors who showed up around 7:30 a.m. On the day we were discharged we only saw one physician, and he did not stop by until close to noon.

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Rounding on the Neuro unit. Maddie had bronchiolitis, so every clinician who entered the room had to garb up to reduce the risk of infection in other patients. 
Continue reading “Six Truths of a Long-Term Hospital Stay with your Little One”

Celebrations, Coping, Development

Comparison is a four letter word

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Next to the actual diagnosis, comparing Maddie to other children is perhaps my biggest struggle. And I know this struggle is not isolated to parents of children with special needs. Many a mom friend has mentioned to me that they’re constantly comparing their children to others their age. Are they achieving at the same level? Are they growing, walking, talking, eating as much as the neighbor child? In fact, years before I became pregnant, one of my best friends described to me that, as a parent, you always want your kids to be the best: best dressed, best looking, best in the class. Continue reading “Comparison is a four letter word”

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”