‘DING DING DING.’ His heart rate dropped. All of the tests were negative. He was known as the ‘mystery baby.’: Woman births baby with Congenital Central Hypoventilation Syndrome, ‘Our lives would never be the same’

More Stories like:

“It was nearing 6:00 p.m. on October 28th, 2019 and while the pain of labor was intense, I knew the end was in sight. With one final push, that moment of instant relief flooded the room. He was here! Brooks Josiah, our sixth precious boy, had arrived. The doctor laid him on my chest and as much as I wanted it to be love at first sight, an instant panic came over my face as I noticed he was a shade of blue. I had done this five times before. I knew what a newborn should look like. I remember a nurse asking, ‘Can we take him?’ and I quickly passed him off. They worked on him for what seemed like an eternity and he slowly started to breathe on his own. After some time, they returned him to me and I spent one blissful night snuggling him while he slept peacefully in my arms. With each passing hour, I woke to check on him and reassured myself the whole incident was a result of my quick labor.

Courtesy of Sarah Markus

I always treasure the first moments between siblings and so the next morning, I eagerly anticipated a visit from my other boys. They came to the hospital and each held their new brother and then my husband left to take them to school. After they left, I tried to feed him and started to worry when he refused to eat. ‘Let’s bathe him and see if we can stimulate him to wake up to eat,’ the nurse suggested. We bathed him and as she returned him to me, he began to throw up and for a newborn, it was a lot! ‘Has he passed any meconium?’ I wish I could have said yes but I knew he hadn’t. And with that, she whisked him away to the special care station. I didn’t know it then but our life would never be the same. After doing some x-rays, they were concerned Brooks may have a bowel blockage. Within an hour, the team from the Children’s Hospital arrived to take him to the NICU. They asked if I wanted to ride in the ambulance but I decided to drive separately. I needed a moment to take it all in. My tear-stained cheeks stung as we drove down the highway. I couldn’t help but let my thoughts go to the worst-case scenario.

Courtesy of Sarah Markus

‘BUZZ.’ We called in to let the unit know we had arrived. My world was spinning and putting one foot in front of the other was a chore. They took us back to a little corner of a quadpod where a doctor greeted us and explained some tests they were ordering — a barium enema, abdominal ultrasound, MRI, bloodwork, EEG, and the list goes on. After they hooked Brooks up to continuous monitoring, we noticed he was having unexplained bradycardia episodes; something that is common among premature infants but not full-term babies. With each alarm as his heart rate dropped, it felt like mine was stopping too.

Courtesy of Sarah Markus
Courtesy of Sarah Markus

Early on, Brooks had two core nurses sign up to care for him. Every shift they worked, he was their assigned baby. It brought me some peace to go home and sleep at night knowing he was in their care. When he was three days old, I received a call very early in the morning, ‘I’m afraid Brooks has declined overnight and we need to intubate. You may want to come in as soon as possible.’ I wish I could explain the gutting pain I felt that morning, as more tears streamed down my face. I called my husband, who was working, to come home; something about his steady strength helped me to get through each day. The next few days were a blur of alarms and waiting for results. The MRI was negative, the barium enema was clear of blockages, the EEG was negative — all of which we were thankful for but he was becoming known as the ‘mystery baby,’ which was not very reassuring!

Courtesy of Sarah Markus

Through all of this, he hadn’t been able to eat or stool on his own. A follow-up X-ray revealed he may have Hirschsprung’s Disease, a rare disorder characterized by a lack of ganglion cells in the colon causing the muscles to be unable to contract. Upon a full biopsy, he received this diagnosis and was taken for surgery for an ileostomy. I broke down as I kissed his little head goodbye and they wheeled him to the operating room. I prayed the whole time the bradycardia episodes would resolve after the pressure in his stomach was relieved, but that was just wishful thinking. The ileostomy brought a strange peace. Hopefully, the worst was behind us. For a few days post-op, it seemed that might be the case, but that came to a screeching halt.

Courtesy of Sarah Markus

‘DING, DING, DING.’ A familiar sound echoed as his heart rate dropped significantly and his oxygen saturation dipped. Why was this happening? The respirologist came to talk to us and suggested we set up a sleep study for the following night. He talked briefly about an extremely rare disease that can sometimes be associated with Hirschsprung’s. For the most part, I tuned him out. I didn’t want to believe it was possible. I hardly slept that night. On one hand, I wanted answers and on the other, I feared the answers we might receive. Within the next day or two, the respirologist and the top neonatologist came in together to talk to us. ‘I have interpreted the results of Brooks’ sleep study,’ the respirologist began, ‘and they are very alarming. I’m very concerned Brooks has Congenital Central Hypoventilation Syndrome.’ Some days it felt like all I did was cry. How could my perfect beautiful baby have something so seriously wrong? ‘We would like to send off bloodwork for genetic testing to confirm but in the meantime, we need to support him with bi-pap to keep him safe.’

Courtesy of Sarah Markus

At this point, I had done more than enough research to know exactly what this meant: ventilation via tracheostomy. CCHS is a rare disease of the central and autonomic nervous system. People with the disorder take shallow breaths or even stop breathing typically during sleep. This causes a build-up of carbon dioxide in the blood and results in low oxygen, it is fatal if left untreated.

Courtesy of Sarah Markus

The next few weeks were difficult, waiting for official results while we celebrated Christmas and New Year’s with a piece of our heart in the hospital.

Courtesy of Sarah Markus

On January 7, a day forever engrained in my memory, we sat down with a team of 20 doctors, surgeons, nurse practitioners, complex care experts, and social workers. The geneticist began with the results of his report, ‘It has been determined that Brooks has Congenital Central Hypoventilation Syndrome. The mutation he has puts him at increased risk of heart pauses and neuroblastoma.’ I made eye contact with one of his core nurses and tears flooded my face. By this point, they knew me well and had a Kleenex box nearby. I took a break mid-meeting because I couldn’t handle much more. I regrouped and we talked about the plan for his sleep study the following day at SickKids in Toronto. As expected, the formal sleep study showed life-threatening apneic episodes and recommended a tracheostomy.

Courtesy of Sarah Markus
Courtesy of Sarah Markus

The following week he was scheduled for surgery for a tracheostomy and g-tube. We were transferred to the Pediatric Critical Care Unit for his recovery. I often describe the day of his surgery as the worst day of my life. I remember his innocent little face looking up at me as we prepared things for the operating room, having no idea what he was about to go through. Words can’t explain what it is like to see your precious baby struggling through recovery like that. There were many ups and downs along the way. The next weeks were filled with training: learning how to do trach changes, running the ventilator, feeding through the g-tube, and what to do in cases of emergency.

Courtesy of Sarah Markus
Courtesy of Sarah Markus

We were discharged on February 25, 2020, facing a whole new reality for our lives. Our first night with all of our children under one roof was both amazing and terrifying all at the same time. It felt much like my first day at a new job, and my ’employer’ was a little demanding! Our older boys were smitten with their new brother and we are adjusting to our new normal. Brooks is almost nine months old now and the light of our lives. He has the sweetest personality and has taught us more in the last nine months than we could have learned in a lifetime. Sometimes the worry and anxiety get the best of me but we are learning with each day to live in the present and thank God for this little miracle!”

Courtesy of Sarah Markus
Courtesy of Sarah Markus
Courtesy of Sarah Markus

This story was submitted to Love What Matters by Sarah and Darryl Markus. You can follow their journey on Instagram and Facebook. Do you have a similar experience? We’d like to hear your important journey. Submit your own story here. Be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

Read more touching stories like this:

‘As we entered our street, the driver said, ‘Which house is it?’ Then he stopped mid-sentence. ‘Oh… never mind, you’ve got quite a crowd waiting.’’

‘It was only a matter of time before the heartbeat stopped’: After loss at 16 weeks, mom welcomes baby who ‘kicked butt’ in the NICU

‘Is this the last time I can kiss him?’ I’d just learned my baby had Down syndrome. Now, he was blue, floppy, and not breathing.’: Mom says baby with Down syndrome, heart defects has taught her to ‘focus on the positive things in life’

Give other moms strength and courage who are continuing to learn about their children with disabilities. SHARE this story on Facebook or Instagram.

For our best love stories, subscribe to our free email newsletter: