‘He is SO loved already.’ No matter what, we were having this baby. The news did not change anything.’: Mom has baby with CHARGE Syndrome, ‘I find such joy in our life’

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“Our journey to CHARGE began on May 8, 2015. It was Mother’s Day weekend, and I could not shake this feeling I was pregnant, so I took a test. We had just started trying to get pregnant. While I was hoping to be pregnant, I honestly thought that sort of thing didn’t just happen so quickly. The test was positive! We were thrilled to be expecting, yet I had this unexplainable bad feeling I could not shake off. We decided to keep our little secret to ourselves until we had seen the doctor and heard the heartbeat. Several weeks went by, and we were finally ready to have our first appointment. We heard the heartbeat and even got to see the little gummy-bear-looking baby growing inside my belly.

Courtesy of Anna Martin

My excitement began to grow, but in the back of my mind, I still had this weird feeling. I have dealt with anxiety for most of my adult life, so I really chalked this feeling up to my anxiety trying to take control. We shared our exciting news with close friends and family, but I was still not ready to go public about our little bundle of joy. At the next appointment, the heartbeat was still strong, and these anxious feelings started to slip away. A day or so later, I got a call about my blood work. ‘Your hormone levels are off.’ My progesterone was low, and you need your progesterone levels to be correct to help prevent miscarriage or preterm labor. That sparked my negative feelings once again, but I started taking progesterone, which kept my levels where they needed to be for the remainder of my pregnancy. All seemed well until it was time for my 18-week anatomy scan.

Fast forward a few weeks to my anatomy scan. This is the time most people are super excited to find out if they are having a boy or a girl. They don’t always realize the importance of this appointment, because it is also the time you learn of any abnormalities that might be going on in your sweet baby’s body. The weekend before this appointment, I had a conversation with a dear friend who had experienced a pregnancy with a baby who had genetic differences. That pregnancy ended in loss. Having the reminder before going into this appointment you can possibly learn so much more information than just if your baby is a boy or girl actually helped prepare me for the news we would receive. God knew I needed that conversation to help prepare my heart.

Courtesy of Anna Martin

I was nervous going into my anatomy scan appointment. I still had this weird feeling something just wasn’t quite right. I was hopeful it was just my anxiety trying to drive me crazy, but that did not turn out to be the case. The technician began to scan every part of my little baby’s body. As she was taking measurements, she was mostly quiet. When she got to the brain, she measured the same parts over and over again. I could tell by the look on her face something was wrong. She told us, ‘I am going to have the doctor come in to scan your baby’s brain.’ We knew that had to be odd. We asked her if something was wrong, and she told us she was measuring the ventricles of the brain a little high. I remember my husband nervously asking, ‘But that can be normal, right?’ We were so hopeful everything was fine with our baby.

She couldn’t go into much detail, but our hearts dropped when she said, ‘No, this is not normal.’ This was the first of many diagnoses we would receive for our child. The doctor came in, scanned, and confirmed what the ultrasound technician was seeing. Once he finished with the scans, he had us come to a room to further discuss the ultrasound. Fear began to creep in and my heart was pounding as I anticipated this conversation, and what I would learn. I had no idea what to expect, or what the news we would learn would mean for my baby and my family. When thinking about my life, there was the Anna before my 18-week anatomy scan and there is the Anna after that appointment. That appointment was the moment my life shifted and changed completely. I will never go back to being the person I was before that day. While I sometimes long to feel the naivety I felt before that day, I know I am exactly the person I am meant to be right now.

Courtesy of Anna Martin

While meeting with the doctor, we learned my baby had something called mild Ventriculomegaly, which basically means he had extra cerebrospinal fluid in the ventricles of his brain. While this was not normal and we should be prepared for our baby to have some differences, my amazing doctor reminded me this baby was so loved already. We knew, no matter what, we were going to have this baby. So learning this news did not change that. It would just help us best prepare for when our baby would enter this world. He recommended we do some prenatal genetic testing, and referred us to high-risk doctors. All of the tests came back normal. I wanted answers, but no one could answer what was going on with our baby, and what we would face.

We had monthly ultrasounds to check on the measurements of my baby’s brain. His fluid in the ventricles stayed stable, which was a good thing. If the fluid increased over time, it could cause pressure on the brain, which would not have been good. During these appointments, we learned more and more information. Some of the doctors we saw were wonderful, and some had terrible bedside manner. Most appointments, I left in tears because I just did not know what our life would be like. Around 30 weeks, I began to have more amniotic fluid than I should have had. That is called Polyhydramnios and from that point on, I began having weekly scans. The doctors wanted to ensure the baby did not go into any distress before delivery.

Courtesy of Anna Martin

As if I wasn’t already scared enough, one of the doctors so dryly rattled off all that could happen with Polyhydramnios. I remember being so overwhelmed when the doctor said to me, ‘You have something called Polyhydramnios. That is when there is more amniotic fluid than is necessary. There are risks involved with this such as preterm labor or even stillbirth.’ I am pretty sure he gave more information than that, but I don’t remember hearing anything after the words stillbirth. Now I wasn’t only afraid of what my baby’s life will be like once he is born, but I was also afraid he could possibly not be born alive. My belly began to grow and grow to the point I looked further along in my pregnancy than I actually was. The Polyhydramnios actually foreshadowed some anomalies we were not expecting prior to the birth. Because of the excess fluid, my water began to break the morning of Christmas Eve, which was a month before my actual due date. This is what brings us to the most amazing Christmas gift we ever received.

Rhett Davis Martin was born on the evening of December 24, 2015. While the labor and delivery were long and slow, it was relatively uneventful. We knew Rhett would be going to the NICU after birth to be monitored, but I was not prepared for the traumatic exit he would take. Once Rhett was born, the doctor laid him on my chest for just a second before rushing him out the door to the NICU. I had my husband follow after them, but I did not realize the severity of the complications Rhett was facing. I was finally able to go see Rhett in the NICU around 11 p.m. He was stable, and I was able to be wheeled to his bedside.

Courtesy of Anna Martin

When I laid my eyes on him, I was overcome with emotion. I could barely see his face because of all the tubes and the tape. I remember feeling so relieved he was alive, but I remember being terrified for his life. Seeing Rhett intubated was when I really understood he was born unable to breathe. I am pretty sure was explained to me prior to seeing him in the NICU, but that news did not resonate with me until I saw him for myself. This unexpected complication puzzled the doctors, which led us down the road to the local children’s hospital. Rhett stayed in the NICU at the hospital I delivered at for 3 days before being transferred to Brenner’s Children’s Hospital.

Courtesy of Anna Martin

At the time, I thought this was normal, to be moved from one hospital to the other, but I later realized they only transfer the babies that needed more testing and surgery. That is the category Rhett fell into. Once at Brenner’s Children’s Hospital, we learned something was causing a blockage in Rhett’s nose. This is why Rhett went into distress right after birth because babies are primarily nose breathers. I later learned the Polyhydraminos during pregnancy may have been due to this blockage, since babies practice breathing in the amniotic fluid in utero. The fluid stays at the appropriate level because the baby breathes it in and it cycles through. The build-up of my fluid may have indicated that Rhett would possibly have some sort of breathing problem since he was not breathing in the fluid, which caused it to build up.

Courtesy of Anna Martin

The day after Rhett arrived at the hospital, doctors and nurses were in and out of his bedside area, thoroughly checking Rhett out from top to bottom. The ENT at the hospital came by to inform us he wanted Rhett to have a CT scan done. The doctor said to us, ‘I highly suspect Rhett may have something called Choanal Atresia. That is when there is a blockage in the nose, making it impossible for an infant to breathe. Normally infants have feeding tubes placed in their noses. When we tried to place the feeding tube in Rhett’s nose, it went up and right back down the same nostril. This is a birth defect that is sometimes part of a bigger genetic syndrome called CHARGE Association, but I think in Rhett’s case it is an isolated birth defect. Rhett does not appear to have CHARGE or any of the outward features. I am going to book him for a CT, and we will plan to repair his nose this week if that is what the CT confirms.’

Courtesy of Anna Martin

Talk about information overload. I had never heard of Choanal Atresia or CHARGE Syndrome. I began to google, which is always a mistake. I prayed so hard Rhett did not have CHARGE. What I found on google seemed so terrifying I could not imagine this being the life we would face. Rhett had a CT scan on a Wednesday and was scheduled for surgery that Thursday morning. The CT confirmed Rhett had Choanal Atresia, and his nose was being blocked by membrane and some bone. During the CT scan, we also learned Rhett had inner ear anomalies. He was missing his semicircular canals, and would likely have some degree of hearing loss.

Courtesy of Anna Martin

The evening after the CT scan, the ENT had me and my husband come to speak with him in a conference room. ‘With the combined occurrences of inner ear abnormalities and the Choanal Atresia, I highly suspect he has a genetic condition called CHARGE Association. I recommend having genetic testing done to rule out or confirm CHARGE, and I would like to place a tracheostomy in Rhett to give him time to grow before repairing his nose. With many babies who have CHARGE, their nose often times closes back up after the repair, which causes multiple surgeries, scar tissue, and possibly airway distress. I feel more comfortable performing this surgery once Rhett has a bigger nose and has had time to grow.’

I was speechless. We were preparing for his nose to be repaired the next morning and now we were being recommended to do a totally different surgery. My thoughts were racing, ‘I don’t want my baby to have a trach. How would that change our lives? I definitely do not want a doctor operating if he doesn’t feel comfortable.’ I felt totally at a loss at what to do. We were not given a lot of time to think over our decision, which, looking back, was probably not the best way to handle things. We should have been given time to think it over, talk it through, and do our own research before agreeing to surgery. Being new parents, and new to the medical world, we did not realize we could have and should have had more time to make that decision. We made the best decision we knew and decided to have a tracheotomy placed on our 1-week-old baby the next day.

Courtesy of Anna Martin

During Rhett’s time in the NICU, my emotions were all over the place. I remember feeling so empty, leaving my baby night after night. I only went home to sleep, and even during that time, I would check on Rhett throughout the night on the NICU camera at his bedside. I remember feeling so annoyed at all of the residents and fellows coming to study Rhett. I know they were trying to learn as much as they could to help the next baby, but at that time, I felt like they were looking at Rhett like a lab rat. They studied each part of his body so intricately, but I just wanted us to be left alone. Now, I welcome anyone who is learning to come to check him out. I know the importance of learning so they can better help the next child. CHARGE is a rare syndrome, so I know it would not be often that those doctors would have the opportunity to study and learn about this condition. I know all of these things now, but at the time, I just wanted to be at home with my baby.

Rhett had numerous tests and two surgeries while in the NICU. We learned about his hearing loss, and our medical vocabulary grew to where it sounded like we could have gone to med school. Rhett was discharged from the NICU at exactly 6 weeks old. We left the hospital with a baby who had a tracheostomy, a g-tube, a genetic diagnosis of CHARGE Syndrome, and numerous doctor appointments scheduled with a variety of specialists.

Courtesy of Anna Martin

My brain was literally spinning with all the phone calls, appointments, and scheduling I had to do once I was home. I had this fragile baby at home I had to keep alive. I was a new mom learning how to be in this role, but I was also a medical mom with so many more responsibilities. I couldn’t just nap when the baby was napping, because I had to be awake to monitor and suction Rhett’s trach as needed. I couldn’t just go to the store, or run an errand because I could not drive with Rhett alone. He needed someone by his side with the suction machine ready to clear out any secretions that would get in his trach. Leaving the house was so stressful because of the number of medical supplies I needed to take with me, on top of the already crazy amount of things you need for an infant. I was stressed, exhausted, and so lonely.

Courtesy of Anna Martin

I welcomed all the therapists who would come into our home to work with Rhett because I was lacking adult interaction. I was so lucky, and still am, to have such a supportive family who would come spend time with us, and were willing to learn how to care for Rhett. I remember just wishing for normalcy. That first year was so hard. This was not what motherhood was supposed to be like. But as Rhett grew, so did I. As days went on, I became more confident in my ability to care for this medically complex child. We found our routine with feedings, therapies, and appointments. Our life eventually became normal. It may not be normal to most, but it was our normal.

Courtesy of Anna Martin

As the years go by, I have seasons of difficulty and seasons of joy. I can find joy in our life more often than not, but I still get down from time to time. As Rhett has grown, we have learned of more diagnoses and difficulties he will face in his life. But I have also learned how to reach out, ask questions, and research information I need to know. I have learned how to advocate for Rhett’s needs when it comes to both medical and educational professionals. I have gained confidence and a voice I did not know I had. I realize that I know my child better than anyone, and I will fight for him so he can live his best life possible.

Courtesy of Anna Martin

Because of Rhett, I am strong. His strength and perseverance have taught me to find those qualities within myself so I can meet his needs. Because of Rhett, I am compassionate. I not only want what is best for my child, but I have a passion to help other moms who face similar circumstances. Because of Rhett, I have a voice. My once shy self has gained confidence so I can hold a conversation with professionals, and educate them on what is best for my child. Because of Rhett, I have so much joy. His happy-go-lucky personality has taught me to see all of the good in life even when we are in challenging times.

Because of Rhett, I have learned sacrifice. I have had to let go of plans and dreams in my own life in order to fully appreciate the amazing life we have been given. Because of Rhett, I have learned how to advocate. My advocating journey is just beginning, and I have learned how to advocate for Rhett’s needs, and for others. Because of Rhett, I have found a love I never knew possible. I now know what it is like to love a child so deeply I would literally give up my own life for them to have the best life possible.

Over the past 5 years, I have grown into the person I am meant to be. I fully appreciate my role as a medical mama and the connections I have made through this journey. I used to think CHARGE Syndrome ruled our life, and while it definitely takes the lead in things, it does not control us. Rhett is the one in charge. His needs are what guides me in all that I do. I am in charge too. I have a valid role in our medical team and help guide them in how to treat Rhett medically. I definitely take charge of Rhett’s educational and developmental needs, and I have a very active role in choosing appropriate goals for Rhett. I even educate his teachers and therapists from time to time on how to best teach Rhett. CHARGE Syndrome does not define our lives. The strength and knowledge we have gained through CHARGE have empowered us to define our own journey. A journey of resilience, strength, growth, joy, and love.”

Courtesy of Anna Martin

This story was submitted to Love What Matters by Anna Martin from Winston-Salem, North Carolina. You can follow her journey on her blog. Submit your own story here and sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

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