‘Oh, honey.’ She noticed a cleft lip and clubbed feet. ‘This is going to be hard.’: Woman shares journey with daughter’s CHARGE syndrome

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“My mom always said, ‘There’s healing in advocacy,’ and I really get that now. I’m not sure what healing looks like, or where I will go from here, but one thing is for sure: my daughter is a queen, and she has kept me moving forward on my darkest days. And I’ve had some dark days.

In April of 2019, my daughter joined the world in a big, traumatic, unexpected way. In September of 2019, my mom, my lifelong best friend and mentor, passed away unexpectedly in her sleep. And in June of 2020, my inseparable partner of 13 years, amazing husband, and dedicated father to her passed away after facing mental illness. I’m currently a giant human ball of endless grief, too much adulting, survival mode, trauma, dark humor, ice cream, and lots of Netflix marathons. But instead of diving into the messiness of my mind and all the stories, let’s just talk about my daughter’s entrance into this world.

My husband and I planned for years in preparation for our daughter. 12 years to be exact. We kept a ‘baby box’ several years before her birth, where my mom, my husband, and I would gather little treats for our future little human. And, in a way-too-obsessive way, I focused on my health and started taking prenatal vitamins an entire year before becoming pregnant with her. We thought we had it all made and everything in our life was going exactly as planned. In August of 2018 we found out I was pregnant, and it was thrilling news for our family. My pregnancy started out pretty typical—except for some horrific all-day sickness where my husband kindly held my hair and cleaned up way too much puke (sorry husband!). But beyond that, we were golden.

We had full control and our plan was in motion. And, as we all know, everything is always within our control and only ever goes according to plan…right? December 2019 rolled around and we were ready for our 20-week ultrasound. It was a major event. My wonderful family took the day off from work and looked like a parade walking into the tiny ultrasound room. My daughter’s grandma and grandpa sat nearby while grandpa had his camera ready to go—tripod and all. There were lots of smiles, giggles, and sniffles. Then the energy changed about halfway through.

The ultrasound tech became softer, noting something was unusual on the ultrasound. She had noticed a cleft lip and club feet. I’ll never forget the immediate shock I felt while trying to hold it all together for my mom, dad, and husband. It was in this (slightly inconvenient) moment the nurse decided to take my blood pressure. Once the nurse said, ‘Oh honey, your blood pressure is skyrocketing,’ I lost it. Luckily, my husband stepped out of the room to hug me, and we just stood there together in silence for a bit. As my husband was hugging me, my OBGYN walked up, gave me a side hug, and told me, ‘You two aren’t sh*t heads. This is really hard news. But you have planned, and you can do this.’ And, oddly enough, it was exactly what I needed to hear in the moment.

After that 20-week ultrasound, everything changed. My husband, my mom, and I attended weekly detailed ultrasounds to keep an eye on our daughter. My husband and I decided to have an amniocentesis done to better plan for and understand the diagnosis. The amnio came back without any genetic markers of a syndrome, and over time doctors felt more confident there was a chance our daughter just happened to have a cleft lip and club feet. Nothing more. It was rare, but not unheard of. ‘Rare, but not unheard of’ became my life story from that point forward.

At the end of March 2019, her growth began to slow while my body began to show signs of giving up. Nothing was concerning to the point of delivery yet, but I was put on bed rest and monitored closely for two weeks. On April 8th of 2019, we were immediately admitted to the labor and delivery unit as my body was beginning to fight carrying her, and her heart was giving up. While closely monitored, I spent the night in the hospital and my OBGYN decided it was time for an emergency C-section on April 9. The doctors couldn’t get me numb fast enough, so they put me under stronger pain relief and sedatives, and I don’t remember much after that. The only thing I do remember was sensing my husband’s concern for us. While my memory is hazy, from what my husband told me—they swiftly took her into another room once she was born.

She wasn’t breathing upon birth. The room was silent, doctors worked quickly, and—with tears streaming down his face—my husband made sure to take (pretty jarring) pictures of every moment. All he could remember saying to whoever would listen was, ‘I promised I would take pictures no matter what. I promised.’ And that statement from him quickly became one of our many dark jokes after the trauma of this experience. After the fifth intubation attempt, they were successful. My husband always recalled how the room went from a chilling silence to the medical staff suddenly talking about their weekend plans. A nurse pulled him closer to hold our daughter’s hand, he finally put down the camera, and in that moment, he was able to touch her for the very first time.

Within minutes, the team at our local hospital quickly realized they didn’t have enough support, and she needed life flight transport to our state’s level four NICU in Salt Lake City. Once she was stable enough for transport, she took off on her first helicopter ride. My husband and dad went to see her, while my mom stayed with me. In the days that followed, I FaceTimed my husband to see her while I worked hard to get moving again. I had many wonderful visitors—but my favorite was the anesthesiologist coming back to visit me, tears in his eyes, with a card for my partner and a stuffed animal for our daughter. The anesthesiologist wrote a note about how he admired the love and care my husband had for me and my daughter—and how he didn’t witness such an intense love like that often. The anesthesiologist commended him for his strength, dedication, and kindness, and said I was lucky to have him by my side through such a traumatic, intense delivery. I agreed and still look at that card often.

2 days later, I was out of the hospital and down to the NICU with my partner to visit her. She was at the NICU for 2 months. 2 scary, beautiful, life-altering months with countless memories and stories. Among all of those memories and stories, our daughter received a long list of medical diagnoses including profound Deafblindness. At the time, this was devastating news for our family. And today, it’s just a part of her. While there is grief around wanting her to easily access the world around her, devastating isn’t a word I’d use for her diagnosis now. I know better and my perspective is changed because her quality of life and tenacious attitude is something I wish for everyone. 6 months after her birth, she received a clinical diagnosis of CHARGE syndrome due to the structure of her eyes. We’re proud to now be a part of the CHARGE family, and cherish our friends in that community.

Now, tonight, I am sitting in bed watching my beautiful daughter roll across my floor looking for the next wall or door to run into because she thinks it’s funny. I spent most of the day chasing her around and signing ‘no’ into her hand because she wants to take every risk possible. She’s fearless, smart, sneaky, and wild, and she has an entire crew of people who have helped us get here. She currently has a physical therapist, occupational therapist, speech therapist, deaf specialist, blind specialist, early intervention, Deafblind specialist, and nurse. And those are just her in-home medical professionals. She also has a huge medical team of specialists, nurses, doctors, and surgeons who have supported her with lots of science and love. She averages 18.5 appointments a month and she’s a bit of a legend for that reason, among many others.

People often say my daughter is inspirational, sweet, angelic, special, etc. But to me, sweet and angelic don’t exactly describe her. She’s so much more than the generic label we put on children with disabilities. She is one heck of a human. She’s a human who has had to face unbelievable challenges and does it with a couldn’t-give-two-sh*ts vibe. She strives to learn, grow, and has done incredible things with the rarest diagnoses and medical complexities. I love her dearly and want to give her every opportunity and chance to succeed in life. And so far, she’s kicking more butt than we ever thought possible.

Since her wild birth, NICU stay, and life at home, our life has completely uprooted in really difficult ways. My mom unexpectedly died in September of 2019, and my husband died in June of 2020. They were my best friends, mentors, cheerleaders, and the ultimate advocates for my daughter. I will always love them, and they’ll have a large piece of my heart. If you started reading this article curious as to why my life entails a lot of grief, ice cream, and Netflix marathons, I hope it all makes sense now. Although life has changed in difficult ways, our wild, rare, my daughter has kept me going. Especially on the worst days of my life. Daughter, if you’re reading this, thank you. Thank you for sitting with me in my darkest hours, helping me continue to avoid the label of ‘sh*t head,’ and teaching me more than I’ll ever teach you.”

This story was submitted to Love What Matters by a woman who wishes to remain anonymous. Join the Love What Matters family and subscribe to our free email newsletter for our best stories.

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