It’s 5 a.m. on a Monday and my alarm goes off. Instinctively, I reach over to press the snooze button. The first battle of the day begins: “Ada, you need to get up right now! This is your only protected time for self-care. You need to be strong, physically and mentally, to care for Lukie. You can do this, mama!”
After a 15 to 20-minute struggle, I slowly roll out of bed. I check the baby monitor. Good, Lukie is still sound asleep—and he’s breathing. It’s been two years since that terrifying first month in the Neonatal Intensive Care Unit (NICU) with constant oxygen monitors beeping and code blue alarms.
Part of me will always remember the fragility of life as a “NICU alum.” I knew very little about the NICU until two weeks before my due date, when my last ultrasound revealed a tiny baby. We didn’t know then, but this was likely due to the genetic condition he would later be diagnosed with. He was neither growing nor moving as he should, and I needed to be induced right the way. Three days later, in a packed room of doctors and nurses on standby, Lukie was born.
Defying the odds, he somehow managed to come out relatively smoothly through a vaginal birth only with vacuum assist. I held my breath waiting for a sound. Then I heard the weakest—but sweetest cry I’ll never forget. However, my first moments of joy were quickly replaced by fear as he was rushed off to the NICU due to an aspiration episode.
For the next few months as a new mother, I suddenly found myself learning things I would never have imagined in a million years. I learned about the list of terms to describe my baby’s conditions: cleft palate, dysphagia, heart defect, hypothyroidism, hypotonia, global developmental delays, failure to thrive and so on. I learned how to keep my baby alive including putting in a nasogastric (NG) tube from his nose to his belly. I learned to use a mechanical pump to deliver a specialty formula to get Lukie his needed nutrition. I learned about the many different tests to further understand if there might be an underlying genetic disorder to explain his myriad of medical complexities.
Finally, in the seventh month, I learned the four letters that would change our lives forever: Z-T-T-K. The whole exome sequencing (WES) genetic test revealed that Lukie was diagnosed to have a rare genetic disorder called ZTTK, named after the four researchers who discovered it in 2016. All known individuals with ZTTK typically have intellectual disabilities. Many have speech difficulties, mobility issues, seizures, poor feeding and multiple organ system complications. There are currently no known cures or treatments for ZTTK.
I learned that I am now a rare disease mother.
At 6 a.m., I’m sitting in my hot yoga class. As the instructor gently invites us to set an intention for the day, my mind races through the checklist of tasks ahead:
I need to email the feeding therapist about Lukie’s recent vomiting episodes.
Could this be related to ZTTK?
I also need to follow up with the neurologist about his upcoming brain MRI.
Oh, and I need to review the talking points for my work presentation.
And let’s not forget to send the “5K for ZTTK” fundraising email this week.
But for the next hour, I try to let go of my to-dos and just focus on being a yogi, one of the many roles and hats I wear as the mother of a rare-disease child.
By 7 a.m., I leave the yoga studio feeling rejuvenated, ready to take on the world—at least for today. With a rare-disease child, each day is unpredictable, and every journey is different. It’s easy to slip into the mindset of “Why me? Why my child, when most babies are born healthy?” But I try to start my day on a positive note. It could be worse. Enjoy today because you never know what challenges tomorrow will bring.
I’m still learning to balance being an optimist with being a realist.
At 7:30 a.m., Lukie starts waking up. I watch him on the monitor as he rolls around in the crib like it’s his jungle gym. I go into his room and chuckle at his playfulness as I proceed to help him to sit up. With hypotonia, or muscle weakness, he’s not yet pulling himself up to sit or stand. As his physical therapist recommends, I position him to sit up on his side, encouraging him to use his arm to push himself up. Still sleepy-eyed, Lukie protests a little but manages to sit up. Sometimes it’s hard to treat every moment as an opportunity for therapy.
I try to make it fun while I’m playing the role of his “physical therapist.”
“Good morning, Lukie! Mama loves Lukie!” I reach out my arms and lift him out of the crib. I give him a few smooches and bring his stuffed animal “Monkey” to give him a big kiss. Lukie shows a shy smile, but quickly turns away, still slightly protesting being woken up.
At this moment, I only see a sweet boy, my perfect baby. It doesn’t matter what the rest of the world thinks of him. I lift him from the crib and give him a big snuggle, which fills my heart with joy and unconditional love. Despite this unexpected journey, I love being his mother.
Once he’s awoken for the day, first task as a caregiver begins. I give Lukie his first set of medications, replace the dressing around his G-tube (or gastrostomy tube, which allows us to feed food through his abdomen directly into his stomach)) and then secure the tube with tic-tac-toe taping. I also check to see if he needs a layer of OTC cream to reduce the bloody granulation that grows around his tube. Once every three months, I replace the G-tube in Lukie’s stomach.I channel my inner strength to play my next role: “nurse.”
At 8 a.m. , I start feeding Lukie. I strategically position the first course—a small piece of avocado—on the side of his mouth and move his jaw up and down to help him warm up. I monitor for any signs of gagging or distress, bracing myself for potential spit-up or vomiting.
We move to the second course—yogurt—and finally to the last course, specialty formula served first in a straw cup, then the rest by the G-tube. Lukie has come a long way since he was less than first percentile in weight to now being in the double digits. There are days when my emotions hinge on how many bites he takes by mouth.
I remind myself to have patience and discipline in my next role as “feeding therapist.”
One thing that helps in the first hour of the day is our shared karaoke session. Lukie isn’t babbling quite yet, though for a few weeks last year he did continuously say “mama,” but has since stopped. To support his speech development, I curated a playlist on Spotify with songs that have repetitive sounds like “Po-po-po-Poker Face” and “Umbrella-ella-ella.”
Singing to “Lucas’ Jam” early in the morning is my creative technique as his “speech therapist.”
On weekdays, our wonderful nanny Kayla arrives by 8:30 a.m.. Some days, I feel guilty that I’m excited to hand Lukie off to her. Does that mean I don’t enjoy my time with my son? Sometimes I feel jealous when Lukie reaches for Kayla instead of me. Does that mean he’s more attached to her? Most days, I don’t have time to overthink because I’m in a rush to start my work day.
I need to be efficient and focused so I can deliver as Director of Strategy—the only role I’m paid to do.
Work takes me to a different world of Zoom meetings, PowerPoint and Excel, where I don’t have to think about developmental delays, disabilities or medical complexities. In stark contrast to the ambiguity of the rare-disease world, the goals and timelines at work are usually well-defined. And, unlike the emotional roller coaster of medical decisions, my model assumptions don’t leave me questioning if I’ve made a life-impacting choice. The unpredictable outcomes of parenting a rare disease child is vastly different from the expected output which correlates to the effort I put into my projects.
I strive to be a higher-performing working mother. However, parts of the day still require me to carry on my duties. Lukie has almost-weekly therapy sessions to work on speech, feeding, gross and fine motor skills, as well as rotating appointments with over 10 medical specialists. While some are in-home, most require up to a 40-minute drive from where we live in Somerville, a suburb of Boston. My husband and I initially chose to live in Somerville because I hated driving, having grown up a Boston city girl.
Now, though, I’ve become a confident driver in my role as Lukie’s chauffeur.
On weekends, I try to maximize Lukie’s time as a kid. Between appointments and all his “homework”—from daily hour-long standing practice to 30 minutes per meal eating practice—Lukie doesn’t have much time for free play. I make sure he gets to experience parks, museums, birthday parties and playdates, just like other kids.
If I’m being honest, it’s not easy seeing the stark contrast between the “typical” kids and Lukie, but I remind myself that Lukie—and each one of us, really—has his own timeline. I try to let go of my expectations about what he should become. I just want him to be happy and loved. And he is. Every family member and friend who has met Lukie adores and loves him.
I’m grateful that he’s surrounded by all of us—we are Lukie’s village.
With everything going on, there isn’t much alone time for me and my husband. We only get quality time together when my mother, who lives nearby, helps out on weekends. But even then, with all of Lukie’s medical complexities and nursing needs, we can usually only get away for a few hours. Many times in the last two years, our relationship has been on the verge of breaking under the stress that comes with parenting— especially rare parenting. But we’re working through these challenges, determined to defy the odds that face many couples with special needs children.
On days when things might be hard, I try to lean into my role as a supportive wife.
At night, after Lukie goes to bed, my daily marathon continues. Last fall, after Lukie’s diagnosis, my husband and I embarked on the journey of drug development to find a cure or treatment. ZTTK was only discovered in 2016, and rare diseases typically don’t garner enough attention from pharmaceutical companies. So we joined the Board of the ZTTK SON-Shine Foundation and are determined to do everything we can to accelerate research in hopes of a breakthrough. With advances in gene therapy, protein replacement therapy, and small molecules, we’re optimistic that a treatment for ZTTK can be developed in the coming years. But there’s a race against time, and there’s no “rare disease playbook” on how to move things along.
I try my best to make a meaningful impact in my role as a patient advocate.
At night as I prepare for another day, I take a few minutes to reflect on my roles as a mom, wife, nurse, therapist, patient advocate, working mother—the list seems to never end. As I conclude my day, I try to leave behind the stress and pressures. I focus on my love for Lukie and my desire to see him thrive and enjoy every moment of his life. As I drift off to sleep, I think to myself:
