“When We Knew We’d Be OK”

Parents discuss coming to terms with their child’s diagnosis


Published:

The Comer Family of Apex

For most parents, the moment when a child is diagnosed with a serious condition or disability probably feels like the end of something — of family life as they know it, of their dreams for the future, of their sense of security in a world that, up to that very moment, was beckoning to them with its promises.

And yet, in a show of resiliency that can seem astonishing to outsiders, many families find their way back from that place of fear and anguish to reclaim a sense of normalcy, finding satisfaction in daily victories, both great and small, or community among others who walk a similar path. They embrace a new purpose. They cherish unexpected milestones. They find reasons to rekindle hope.    

We asked three such Triangle parents to share with us how they made that journey. Here are their stories.

 

Finding a New Normal

“The human connection was so important.”

Gwen Comer, Apex

My husband, Scott, and I have a blended family, including three college-age children, Slade, Alexis and Sloane; Mackenzie, who is 4½; and Libby, who is 2. When Mackenzie was 22 months old, she was diagnosed with Rett syndrome, a neurological disorder that is first recognized in infancy and seen almost always in girls.

Until she was 12 months old, Mackenzie developed normally, had a handful of words and was meeting typical milestones. We became concerned by her sudden loss of speech and inability to walk independently at 16 months. We visited a developmental nurse and subsequently saw our first physical therapist for evaluation. The PT said Mackenzie had hypotonia, or low muscle tone, which she described as a neurological issue. I nearly panicked at that very moment. I requested a visit with a pediatric neurologist, who ordered some diagnostic testing. Then came the diagnosis. We could not have been less prepared for the shocking news that day. 

Rett syndrome (named after Andreas Rett, the doctor who discovered it) is caused by mutations on the X chromosome. It causes problems in brain functions that can include learning, speech, sensations, mood, movement, breathing, cardiac function and even chewing, swallowing and digestion. Symptoms appear after a period of normal or near-normal development until 6-18 months, when there is a stagnation of skills, including communication and purposeful hand use. Other problems may include seizures and disorganized breathing patterns. There currently is no cure for Rett syndrome.

For the first month post-diagnosis, I was numb. Getting my arms around this information was overwhelming and confusing. I was four months pregnant and terrified not only for Mackenzie but also for our unborn child. Over the next few months I found myself reading until I fell asleep every night, trying to soak up any information I could find, to understand what this meant today and what it would mean for us going forward. I wanted desperately to connect with other families, just to know what life was like on this “other side” that we never expected to be a part of.

I will never forget the first Rett parent I talked to. He said, “It will be OK. You will find a new normal.”

The words “It will be OK” will resonate with me forever. This was my first realization that the human connection was going to be so important to me. I could read scientific articles for nights on end, but the actual contact with another family, another parent and another life unexpected — that was going to be an important coping mechanism for me and my family. So the quest began, to reach as many Rett families in the area as possible. To learn from them, share with them, connect with them, feel with them. To ask, how do we find our new normal? And with every new family connection, despite their daughter’s severity of symptoms, mutation or current family challenges, I began to feel that it would be OK.

We are grateful to have a lot of support, including our medical team, volunteers, family and friends, to ensure Mackenzie is as “typical” a 4-year-old as possible and that her future is a bright one. While we worry about Mackenzie’s future and the future of all girls affected by Rett syndrome, we focus our energy on how we can effect change by fundraising and raising awareness of Rett syndrome, by living our “new normal,” and by doing what most parents do: pave the way for the best possible future for their children.    

 

Accepting a Different Pace

“This is not a sprint — it’s a marathon.”

Kimberly Burrows, Holly Springs

After close to three years trying to get pregnant, my husband, Dave, and I were so happy when we found out we were expecting our son, Zach. He was born in 2002 and, despite being four weeks early, was a perfectly healthy child.

Zach was always very active, but by age 5 his activity level had intensified. He started kindergarten, where behavior and focus problems soon followed. We had a new baby at home, and initially we thought that this may have impacted him. However, he was finally diagnosed as having attention deficit hyperactivity disorder. Over the next six years, we received additional diagnoses including autism, Tourette’s syndrome, anxiety, sleep issues and a possible seizure disorder. Our lives quickly became multiple monthly visits with doctors and specialists, calls from school and meltdowns at home. As hard as it was for us as parents to cope, it was even harder to see our child in pain. Zach had very few friends and was struggling to fit in.

Zach Burrows of Holly Springs

There were so many times we wondered, “Why is this happening?” or “How can we get through this?” Our saving grace was a wonderful therapist who reminded us that there was hope. He would often tell us, “This is not a sprint — it’s a marathon.” He helped us find the right doctors and therapies.

The other person who helped us through this was Zach. Despite his disabilities, he is such a caring, loving child that he inspired us to keep going.

In November 2013, we moved to North Carolina. We hoped the move would be a fresh start for our family and that we would have better access to healthcare. We were pleased when Zach adjusted well at his new school and started making friends.

Then, in May 2014, Zach was dealt another blow. What started as a stomach bug turned into a five-day stay at Duke Children’s Hospital. He recovered, but a week later the symptoms were back. He was readmitted and diagnosed with a rare metabolic condition, glutaric acidemia, which inhibits his body’s ability to process fat and protein. At the time he was admitted, Zach was in metabolic crisis. Fortunately, he recovered, but it has meant drastically changing his diet. Imagine telling a 12-year-old he can no longer eat meat, have pizza with friends or go out to eat with his family. His diet now consists of 12 servings of fruit and fewer than 50 grams of fat and protein per day. He can’t run or exercise for long periods of time because he doesn’t have energy reserves like other people.

My husband and I dealt with this diagnosis differently. Dave is a scientist, so he dove into the research, determined to read everything about this disorder so it could be treated better. I had a more emotional reaction: I got mad. For a week, I was upset with the world, angry that Zach had to face another challenge. However, my “mad” got me through and allowed me to move to the next stage, which was acceptance.

But Zach’s diagnosis also came as a relief. It helped explain why Zach had had so many problems with medication for his other disorders. We finally had the answers we had sought for so many years, and we saw there was a plan for the future. That is not to say it is easy, but it is better. He still struggles and there are times when his new diet frustrates him, but we are so proud of him. Zach has overcome so much, and he refuses to let his disabilities define him. He is truly remarkable!

 

Readjusting Expectations

“The thing about Tucker…”

Bill Baragona, Cary

We were at the doctor’s office halfway through my wife’s second pregnancy when the doctor told us there was a 50/50 chance of a major problem. That’s when it all started. It was 2001, and life was never the same.

In our case it was tuberous sclerosis, a rare genetic disorder that causes benign tumors to grow in many parts of the body.  In some cases the tumors are in harmless places and do nothing. In Tucker’s case the tumors are small knots in his brain that cause seizures and prevent typical mental development. When he was first born we had no idea how bad it would be, but the doctor told us upfront that any number of knots in the brain over eight would be a problem. Our hearts were torn out when the MRI came back with a number of 32 and counting.

For us this means we have a child who will never talk, who eats his clothes and anything else he can get in his mouth, and who can never be left unsupervised. A child whose room can only have a bed with a special box built around it so he doesn’t eat the sheets, and whose pajamas consist of a wrestling singlet safety-pinned to his shirt and shorts, because without the pins we will come in and at least one article will be gone, down the old gullet. A child whose only sign of real intellect is in his ability to beat whatever system we come up with to keep him out of that sort of trouble. At least that’s something.

Tucker Baragona

But the thing about Tucker is that he never smarts off or is disrespectful. He never underachieves, and we never get so fed up with him we want to scream. As the father of two other children who are typically developing, I know that is a normal feeling with most kids. Tucker can’t make you mad, and he never needs to be punished. He will never say he hates you, and he will never leave.

When I consider when it was that I knew we’d be OK, I can honestly say that, for me, it was not a single incident or time I can recall. It was more the growing understanding of the role expectation plays in our own happiness.

 

The other day my older son Gabe’s coach came up to Tuck, who’s now 13, and reached out to shake his hand. Now, Tucker grabs everything and everyone, so naturally he took the outstretched hand. It was his first handshake. I almost cried. He didn’t realize he was “shaking hands,” but the moment just seemed so normal. If you hold out your hand right to his face, he will lean forward and kiss it. It feels the same as when my other sons get an “A.” When we wake him up and he has not eaten his clothes, or if the baby gate is down and he didn’t get in the shower fully dressed and turn it on, it feels just like when a typical kid does his chores. It feels good. He has almost learned to hug and he knows what peanut butter is. I feel a sense of pride when he catches the pantry door open and brings me the jar. 

It’s that kind of thinking that will get you through the challenges of your child’s disability with your heart intact.

 

Karen Lewis Taylor is a freelance writer and editor and has served as project editor for Exceptional Child since its inaugural issue, Special Edition, in 2010.

 

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The first Holly Springs Children's Business Fair allows children in Holly Springs and surrounding communities to showcase their entrepreneurial skills by launching their own business. Children...

Cost: Free

Where:
Holly Springs Towne Center
NC55 & New Hill Rd.
Holly Springs, NC  27540
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Sponsor: Infinity Educators, LLC
Telephone: 919-694-1908
Contact Name: Charlene Y. Dunn
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Little ones enjoy storytime.

Cost: Free

Where:
Barnes & Noble
5959 Triangle Town Blvd.
Cary, NC  27616
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View the main power drive and milling machinery while exploring the mill's history and aspects of its preservation. All ages. Registration encouraged online; tickets available inside...

Cost: $5/adult, $3/ ages 7-16. Free for ages 6 and younger.

Where:
Historic Yates Mill County Park
4620 Lake Wheeler Rd.
Raleigh, NC  27603
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Sponsor: Historic Yates Mill County Park
Telephone: 919-856-6675
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Explore the historic heart of downtown Raleigh on a walking tour of Fayetteville Street. Tours highlight the people, places, architecture and political movements that have shaped...

Cost: Adults (18+) $10; Youth (7-17) $4; Children (6 & under) Free.

Where:
City of Raleigh Museum
220 Fayetteville St.
Raleigh, NC  27601
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Join staff for a morning in the gardens. Take a peek at a mini pond, composting area, pollinator garden and children’s garden. Ages 5 and older with family. Register online. 

Cost: $1/person

Where:
Blue Jay Point County Park
3200 Pleasant Union Church Rd.
Raleigh, NC  27614
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Enjoy giveaways, live entertainment, food, inflatables and more. Dog-friendly event.

Cost: Free

Where:
Lake Pine Plaza
US 64
Apex, NC  27523
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Sponsor: Lake Pine Plaza
Telephone: 919-446-5386
Contact Name: Kelly Foster

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Enjoy live music. Take a blanket or lawn chairs. Pets and alcohol not permitted.

Cost: Free

Where:
Apex Nature Park Amphitheatre
2600 Evans Rd.
Apex, NC  27502
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Sponsor: The Halle Cultural Arts Center
Telephone: (919) 249-1120
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Annual Guides

Education Guide

The 2017-18 Education Guide offers 660 education resources in the Triangle, including area preschools, private schools, public school systems, charter schools, boarding schools and academic resources.

The Triangle Go-To Guide

Our Triangle Go-To Guide connects you to family fun resources across the Triangle. Plus, find out who our 2018 Readers' Favorites are.