‘It doesn’t LOOK like a seizure.’ There are only 35 people in the whole world with this.’: Mom of son with rare chromosome disorder claims ‘I will never stop advocating for you’

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“I watch your chest rise and fall under the light of the monitors. You look peaceful in the moment, almost peaceful enough for me to fall asleep. Almost. My eyes burn, and each time I blink, sleep tempts me. I can’t stop watching you. Even though I know the monitors will alert me if something happens, I’m so scared…

A boy with a rare chromosome disorder lies in a hospital bed hooked up to wires
Courtesy of Heather McCain

Suddenly, your body tenses, and your arms fly above your head. Your eyes roll back as every muscle in your body tenses. The monitor starts beeping as your oxygen levels drop. I jump up and hover over the metal crib where you lie as tears swell up in my eyes. I tell you, ‘It’s okay, Mommy’s here. It’ll be over in a minute.’

I don’t feel like it’s okay though, I feel like running into the quiet hallway of the pediatric unit and screaming something is wrong with my baby, just like I did 7 months prior during your first hospital admission, when I was first told these episodes were seizures. This time, though, I don’t expect any nurses to come running because by now, I’m expected to be able to handle this on my own unless it becomes an ’emergency’ situation, like if the seizure doesn’t stop.

A boy with rare seizures lies in a hospital bed with bandages and wires
Courtesy of Heather McCain

As the seizure ends, I pick your limp body up and cradle you in my arms. I slowly lower myself into the chair, careful not to tug on any of the wires attached to you. Your breathing is shaky, and you are unresponsive to my hand stroking your head. I’m so angry. I’m only nineteen, and you are my first child, and this is not how I envisioned your life would be. I never imagined you would spend your first year in and out of the hospital. I never thought I would watch my child suffer day after day and be told some kids just have seizures and no one knows why.

Only, now, everyone wants to know why you’re having seizures because you are having too many. As I gently rock you, my mind takes me back to the first one. You were three months old, it was the middle of the night. I felt you moving and thought you were waking for a bottle. Instead, your eyes rolled into the back of your head, and you stopped breathing. I thought you were dying. During the 9-1-1 call, I remember the man on the other end saying to me, ‘It sounds like he is having a seizure.’

A baby boy with rare seizures sits on the floor in a striped shirt
Courtesy of Heather McCain

‘No,’ I said, ‘It doesn’t look like a seizure.’ I didn’t know about all of the different types of seizures, yet. I later learned that first seizure was a myoclonic one. What I didn’t know was it was the beginning of hundreds upon hundreds more of that type and several other types. You went on to have more episodes in the hospital, prompting the doctors to start you on an anticonvulsant medication called Phenobarbital. Unfortunately, even with the new medication, you were back at the hospital within days of being released due to more seizures.

I bring myself back into the present, where I’m sitting with you in the unnervingly still hospital room. We are a few hours from home, away from the people we love, and I feel so alone. Our local hospital decided it was time to transfer you to a bigger, more equipped hospital to start looking for a diagnosis. When they first told me, I thought, ‘A diagnosis? I thought Epilepsy was the diagnosis?’ Even after 7 months of uncontrollable seizures, no one had made it clear to me that Epilepsy could be a symptom of a much bigger diagnosis. Since we arrived, you, my sweet and tiny baby, had been hooked up to monitors, had more than enough blood draws, and had been subject to a very painful spinal tap.

I slowly stand up so I won’t wake you, even though I know you will probably sleep for hours on end after all of the seizures you’ve had. I place you back into the crib and sit back down in the chair, where I will stay awake all night to watch you.

Fast forward…

You are barely over a year old now. You spent your very first birthday in the hospital. You are only 18 pounds, and I have been told you are developmentally delayed. You have started physical therapy because you have low muscle tone. You are on three medications now, but the seizures still come regularly. It is not uncommon for you to have fifty or more in a day.

A boy with rare seizures sits in a high chair on his birthday
Courtesy of Heather McCain

I carefully peel open the envelope that came in the mail today. It’s from the university hospital. On the piece of paper, ‘chromosome anomaly’ is circled. There is a note from the neurologist asking me to call him. My hands are shaking as I pick up the phone, and I feel like everything is in slow motion as I dial the number. I bite my lip hard as I listen to the recording and wait for the beep so I can leave a message. I don’t want to leave a message, I want to talk to the doctor. I need to talk to the doctor. I leave a message.

The next few hours drag by. I pace around the kitchen as you play happily in your playpen. I can’t seem to get my thoughts together. I don’t even know what a chromosome anomaly is. I’m scared. I’m frustrated. God, why? Didn’t I pray every day during my pregnancy for a healthy baby? I was told the seizures would probably stop by the time you turned two, and I realize for the first time that may not be true.

The phone rings.

‘Hello?’

‘Hi, Heather, this is Dr. Weig.’

The rest of the conversation is a blur. Exact words are lost, but I’m told that something isn’t right with your 14th chromosome, and we need to go to Chapel Hill to see a genetics counselor and a neurologist. We make an appointment.

Just days later, we go. There, we are told you have a rare chromosome disorder called Chromosome Ring14, and there are only 35 people in the whole world diagnosed with this. You are the only one in North Carolina. Your doctors will be learning more from you than we will from them. Ring14? I’ve never heard of this before, and you are diagnosed with it? I feel like collapsing on the floor, but I don’t even cry. I hold you tight and listen while the doctors tell me they don’t know how severe your delays will be, or if you will have seizures only during childhood or for your whole life. Then we go home.

A boy with a rare chromosome disorder is pulled by his brother in a wagon
Courtesy of Heather McCain

At home, I search the internet for more information, but I only find one paragraph about Ring14 on a few different websites. It isn’t encouraging. It talks about intractable Epilepsy, developmental delays, and other health issues. I read the paragraph over and over. I don’t feel informed, I just feel lost, scared, and so lonely. I blog on MySpace about what I’ve been told. I type, ‘It can’t be fixed or changed.’

A boy with a rare chromosome disorder sits next to his siblings at Christmas
Courtesy of Heather McCain

Fast forward…

You turned 15 in February and now have an entire list of diagnoses and medications and procedures. You are not the little boy I imagined or the physically healthy child I prayed for while pregnant. No, you are far more than I could have ever imagined and, without a doubt, the happiest person I know. You don’t need to be fixed or changed. You are non-verbal, but you teach me every day. I’m still scared sometimes, but I’ve learned so much.

A boy with a rare chromosome condition wearing a yellow swimshirt at the beach
Courtesy of Heather McCain
A boy with Ring14 sits in a stroller outdoors wit his hood pulled up
Courtesy of Heather McCain

There are over 200 people diagnosed with Ring14 now. We are even blessed enough to know several of them thanks to the Facebook group we found when you were five. We call them our ‘Ring14 family.’ Some of the amazing mothers of children with Ring14 started a branch of Ring14 International here, called Ring14 USA. I serve on the board. Starting in 2013, there have been camps and conferences for families to attend, and we have been to every single one. I will never stop advocating for you, and we are not alone in our fight anymore. These days when someone is diagnosed with Ring14, it is much easier to find information and other families.

A boy with Ring14 sits in his stroller at am arcade holding a green ball
Courtesy of Heather McCain
A boy with a rare chromosome disorder wearing a hotdog costume
Courtesy of Heather McCain

I used to fear your rareness, how hard it was to find others like you. Now I know, you are a beautiful, rare gem. Yes, your diagnosis of Ring14 changed our lives, but it did not change you. You are my son, my first-born, a big brother to 4 siblings. You are happy, you are brilliant, you are amazing, you are funny, you are sweet, you are loved.

A boy with rare seizures sits with his four younger siblings, all wearing matching shirts
Courtesy of Heather McCain
A boy sits in a stroller with his four siblings and parents near him
Courtesy of Heather McCain

You are so, so loved.”

A boy with a rare chromosome disorder laughing
Courtesy of Heather McCain
A boy with a rare chromosome disorder sitting in a wheelchair wearing a tie
Courtesy of Heather McCain
A boy with a rare chromosome disorder smiling and sitting in a chair at a hospital
Courtesy of Heather McCain

This story was submitted to Love What Matters by Heather McCain of Mombie Needs Coffee from Leland, North Carolina. You can follow their journey on Facebook. Learn more about Ring14 on their website. Submit your own story hereand be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

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