In the Korean culture, we celebrate when a baby turns 100 days old. Historically, it marked the major milestone of a baby surviving past the point where infant mortality was highest. Today, it’s a joyful time for family to come together to bless the baby with happiness and health. On the very day we should have been celebrating Lily’s 100th day of life, we received her KAT6A diagnosis from her neurologist, and the world stopped.

Lily was born at 36 weeks and spent her first 29 days in the NICU. At first, her NICU admission was due to low oxygen saturation but poor feeding and hypotonia quickly followed. Every day, I’d start my routine of trying to nurse her then bottle feed her only for her to end up feeding through a tube. As her mom, I felt immense pressure to figure it out. I was the one who was supposed to be able to take care of her. I spent hours at the NICU, 7 days a week, trying to increase her intake volumes little by little. I assumed this would be very temporary though and that one day, feeding would just click for her and we’d be over this hurdle. But as the days went on, we continued to struggle. Each day brought a new specialist. She became a patient of Neurology, Cardiology, Urology, Audiology, Gastroenterology, Physical Therapy, and Feeding Therapy. Part of me thought the hospital was being overly cautious or just trying to take advantage of my insurance coverage. Why did she need to see all these specialists? We were going to get out of here anyway and resume our normal lives. Looking back now, I don’t think I was fully able (or willing) to grasp the reality of our situation. I was hopeful that this would be a temporary blip and that everything would work out. I never even considered there could be something deeper going on.

After a month, we just barely got to a point with bottle feeding where we received the green light to take her home. I continued to hold out hope that things would just improve naturally, but Lily’s hypotonia made her easily exhausted and she was never able to finish her bottles. Ultimately, she was diagnosed as failure to thrive around the same time we received her diagnosis. This is the point when I realized I needed help. I needed that team of specialists from the NICU that I took for granted. I started to understand the value of early intervention. Lily and I needed help. So at just three months old, Lily started weekly physical therapy and feeding therapy and I started my journey of putting together Lily’s team of doctors. 

As a parent of a medically complex child, juggling and repeating are two things I’ve gotten good at. I can list off all of Lily’s doctors, their departments, their locations, and our most recent visit notes. I can coordinate appointments, make calls, and re-arrange schedules. What I can’t do is be an expert in all of these fields, no matter how hard I try. Lily’s Physical Therapist, Sarah, was the one who matched Lily’s pace and worked with her week after week to build her core and help her coordination. Her Feeding Therapist, Rachel, was the one who figured out that using a speciality feeding valve in her bottle would help accommodate her low oral muscle tone. Her Gastroenterologist, Steven, was the one who recommended a high calorie formula to increase her growth velocity. Her Nutritionist, Natalie, is the one who keeps track of her protein intake and volume levels. The KAT6 support group helped us get in touch with Dr. Richard Kelley who was able to review her lab work and recommend the mitochondrial cocktail to support her development. The list goes on and on because Lily has an entire team of doctors, specialists, and therapists who support her (and me). 

With KAT6A, I’ve learned that it’s hard to know what the future will look like. It’s hard to anticipate what Lily’s progress will be or where she’ll need more support. I’ve learned that instead of wondering or worrying, we need to just tackle the symptoms as they arise. We need to celebrate all the wins both big and small. We need to take things at Lily’s pace. As a parent, you always hear people say that it takes a village and now I truly understand that. She has a community of people who all share a singular goal - ensuring that Lily is able to thrive. I will forever be grateful for her team. Because of them, Lily recently reached some major milestones. She is able to go from her tummy to an independent sitting position without any help. She’s able to scoot around on her belly and army crawl from one side of a room to another. She is eating level 2 solids and learning to drink from a cup. She is waving hello. And lastly, she has started to do something that bursts my heart wide open. She has started to form the word “mama” with her mouth and has even said it a few times. I’m so proud of my sweet girl and everything she has been able to accomplish with the help of all those who love and support her.