Beyond the Rare Diagnosis: The Joy, Struggles, and Strength of One Extraordinary Mother and her Child

There is nothing more contagious than a child’s giggle. You can’t help but smile when you hear it. It's a joy that instantly lights up a room and fills it with warmth. Although Nathaniel’s laugh sounds different, it’s infectious, and one of his mom’s favorite things about him. Nathaniel may not fit the mold of a typical seven-year-old, but his spirit, love, and boundless curiosity make him unforgettable. He is a social butterfly, drawn to people and fascinated by the world around him. He loves music, especially anything with a good beat, and toys with buttons galore. You’ll constantly hear the movie Cars playing in the living room, and giggles echoing through the house between Nathaniel and his three-year-old brother, Jack. The most inspiring thing about this seven-year-old? He was diagnosed with an extremely rare genetic condition, one with fewer than 50 documented cases on record, but his giggle, shines through.

Parenting is a journey filled with unexpected twists and turns, and when your child faces a life-changing condition, the journey becomes a battle. Her journey as a mother and a caregiver, although faced with great hardship, is also one of extraordinary resilience, love, and advocacy. What's even more special, is Nikki is not only Nathaniel's mom, but her journey is what brought her to Juno, where she is part of the team changing the lives of families.

Nikki shared her story with Juno, from the emotional highs and lows of navigating Nathaniel’s condition, to the challenges of accessing necessary care, to her experience as a parent and caregiver, and to the immense joy her son brings to her life every single day. To say she is an inspiration is an understatement.

The Moment That Changed Everything

Nikki had a smooth pregnancy, and standard prenatal tests revealed no concerns. But upon Nathaniel’s arrival, doctors immediately noticed a few irregularities. Nikki remembers them saying, “Oh, this is a little bit abnormal, and that’s a little bit abnormal” over and over. But they had no clear answers.

From that moment, a whirlwind of medical appointments, genetic testing, and uncertainty consumed Nikki and her family. She was discharged from the hospital with nine specialist appointments. She wasn’t just navigating the unknown world of becoming a mother; she was shouldering an immense unknown about her child’s future and health. There was a constant underlying fear – was this something minor, manageable, or life-threatening? “Is he going to die? We don’t know,” she recalled thinking. “So that was a really scary time.” The sleepless nights, the overwhelming responsibility, and now, the looming uncertainty over Nathaniel’s health made the first few weeks almost unbearable.

It wasn’t until Nathaniel was a month old that they received an official diagnosis. Yet, even with a name for his condition, there was little guidance available.

Nathaniel was diagnosed with Distal Trisomy 10q, an extremely rare genetic condition. He has a large duplication on his 10th chromosome, which his geneticist believes is the root cause of his symptoms. At the same time, he also has a deletion on his 19th chromosome. 

Distal Trisomy 10q is a rare genetic condition that can affect growth, muscle tone, and development in varying ways. Children with this condition may experience slow growth before and after birth, low muscle tone, and delays in learning and movement skills, ranging from mild to severe. Some may also have distinctive facial features, limb differences, and potential complications with the heart, kidneys, bones, or even breathing. 

“There was no playbook,” Nikki recalled. “We were given his diagnosis, but because his condition is so rare, doctors couldn’t provide much insight into what his future might look like.” There was no literature, no roadmap, and no reassurance. The first few months following Nathaniel’s diagnosis were filled with more sleepless nights, endless research, and overwhelming anxiety. It was a moment that should have brought clarity, yet it left Nikki and her husband with even more questions.

“We were like, cool. So what do we do?” she said, recalling the frustration. “It felt like a big deal, but also completely useless to have the diagnosis, because it didn’t really tell us what to do.”

Resilience in the Face of the Unknown

As time passed, Nikki and her family adapted, learning everything they could in the absence of clear medical guidance. For parents of children with rare conditions, one of the hardest challenges is the unpredictability. There was no clear trajectory for Nathaniel’s development, no way to plan, and no way to know what milestones he would reach or when. 

Nikki described the grieving process that came with adjusting expectations; “When you think about having a child, you imagine their life, what they’ll do, who they’ll become. Coming to terms with the fact that Nathaniel may never live independently was incredibly difficult.”

But through it all, Nikki found strength in Nathaniel himself. At seven years old, he is a beacon of joy. “He’s so full of love and curiosity,” Nikki said with a smile. “His laugh, his unique little laugh, is the best sound in the world.”

Today, thanks to the unwavering dedication and tireless efforts of his parents, Nathaniel has a support system to help meet his unique needs. His days are structured around a supportive network of teachers, therapists, and caregivers who are dedicated to helping him thrive. He attends a specialized school where he receives individualized attention. 

His educational experience includes multiple therapies, ranging from speech therapy to occupational therapy, and physical therapy. These programs work together to strengthen his communication, motor skills, and daily independence. 

Outside of school, he continues his therapy sessions, often coming home exhausted but accomplished. His curiosity and excitement for life remain, and his progress, while sometimes slow, is undeniable.

Navigating a Complex System

The path to Nathaniel having a support system to help him was far from easy. On top of the emotional toll, parents of children with disabilities must navigate a complex and often frustrating system of healthcare, insurance, and education. Nikki quickly became an expert in securing services for Nathaniel, learning how to advocate for early intervention, therapy services, and Medicaid waivers.

“Insurance is a nightmare,” she admitted. “There are limits on therapy sessions, constant denials, and an overwhelming amount of paperwork. I had to constantly work and educate myself just to ensure Nathaniel got the care he needed.” 

Insurance policies and benefits are not built to support kids like Nathaniel. When a child breaks their leg, they likely need a few weeks or months of physical therapy. A typical health insurance plan accounts for the likely amount of physical therapy sessions needed to heal a broken bone. 

But kids like Nathaniel often need these therapies multiple times a week for the long-term, forcing parents like Nikki to shoulder significant out-of-pocket costs for critical therapies as they quickly reach covered therapy session limits swiftly. These costs typically start at $150 per hour and can run for multiple hours per session. On average, the cost to care for a severely disabled child is $49,000 per year, and up to $1.5 million over a lifetime. Nikki shared that her annual costs are significantly more.

Education was another battle. Finding the right school, one that could fully support Nathaniel’s needs, was a challenge. Ultimately, Nikki was able to enroll him in a private special education program, fully funded by their school district. “We’re so lucky,” she emphasized, acknowledging that many families are not afforded the same opportunities due to financial and systemic barriers. In reality, many parents have to sue their school districts to get the rightful help their children deserve and need. 

Finding Strength in Community

One of the most valuable lessons Nikki has learned is the importance of finding a support system. Early on, she connected with other parents of children with rare genetic conditions.  In her search for resources, she found a Facebook group called Manhattan Special Kids, a community for families of children with disabilities. “That, in and of itself, has been a fantastic resource,” she said. Even after moving away from the city, she remains in the group, unwilling to leave behind the invaluable advice and support it provides.

Initially, Nikki thought she needed to connect with parents of children who had the exact same diagnosis as Nathaniel, but she quickly realized that wasn’t necessary, or even possible given the rarity. What mattered was that these parents were facing similar challenges. The nuances of their children’s conditions varied, some children could walk and talk while others could not, but they were all navigating the same overwhelming systems of care, therapy, and education.

This newfound support system became critical as she moved through the different stages of securing services for Nathaniel. “We were all figuring out how to transition from early intervention to preschool special education together. What do you ask for? How do you advocate? What paperwork do you need?” she explained. They shared insights on everything from state-funded disability services to the complexities of individualized education plans.

“Having people who just ‘get it’ has been life-changing. They help me navigate the system, share resources, and most importantly, remind me that I’m not alone.”

Today, their group chat remains active, a place where they could share both victories and struggles.

Through this network, Nikki also met other parents who were a few steps ahead in the journey, offering invaluable guidance. “Having someone who was just a year or two ahead to say, ‘Here’s what you need to ask for, here’s who you should talk to,’ made such a difference,” she said. It took the mystery out of navigating a system that often felt like a black box. 

For Nikki, finding a community wasn’t just about resources, it was about feeling seen, understood, and supported. “You don’t have to go through this alone,” she emphasized. “There are parents out there who get it, who will help you, and who will stand by you. Having that network makes a world of difference.”

Her biggest advice to other parents? Find your people.

Making a Difference Through Juno

Working at Juno, Nikki is helping to build an incredibly impactful solution for families. This mission is deeply personal to her. “This is literally why I took the job,” she said. “I want other families going through similar experiences to have a better experience than I did, and Juno can make that possible.”

“I actually did a test claim for Nathaniel with his real medical records a while back to make sure we had a smooth process in place for how a claim would be evaluated. It was confirmed that if I did have Juno coverage when he was born, we would have received benefits.” Nikki went on to share, “Of course we wish we received benefits, but Juno didn’t exist back then. Where I find comfort is that we can make this a reality for families whose child develops a severe disability or illness today, and that’s so motivating to me!”

Beyond Juno’s mission, Nikki was drawn to the company because of its culture, one that truly understands the realities of parenting a child with a disabilities. “I wanted to work somewhere that got it,” she shared. “I needed a place where I didn’t have to hide that I have a child with a disability, where it wouldn’t be seen as a burden but simply a part of who I am.”

A supportive environment that remains rare in many workplaces still today. “There was a study that showed most parents would feel comfortable telling their employer they have a child with a disability, but the majority haven’t actually done so,” Nikki noted. “That says something. In theory, people feel like they should be able to share, but in practice, they don’t. That means there’s still a barrier.”

At Juno, she doesn’t have to worry about that. “It’s different here. I don’t have to pretend. I don’t have to feel guilty about taking my child to an appointment or stepping away for something urgent. The people I work with understand, not just in words, but in action.”

For Nikki, working at Juno is about being part of a movement to change how families like hers experience support, both in the workplace and through essential benefits. “I hope that one day, every employer understands what true support looks like,” she said. “And I hope that parents never have to feel like they have to hide a part of their lives just to keep their job, or be forced to struggle in silence.”

‍

A Call for Change

When asked what she would change about how employers, insurers, or society at large support families like hers, Nikki was clear; “In general, make the processes clearer up front and don’t require families to jump through so many hoops and risk such financial hardship to get the care and services they need! These kids are our most vulnerable population, we need to do a better job supporting them.”

‍

Nathaniel’s Future

Despite the daily challenges, Nikki remains hopeful. “I don’t know what Nathaniel’s future holds, but I do know that he is surrounded by love and support. He’s happy, he’s learning, and he’s thriving in his own way.”

She urges other parents on a similar path to take things one step at a time. “Some days will be hard. Some days will feel impossible. But in those moments, look at your child, see their strength, their joy. Let them be your guide.”

When asked what she wishes more people understood about kids with rare conditions, Nikki said, “He is still a person and an amazing one at that. He’s very deserving of our love and care, even if it looks different for him than it does for most children. He is also one of the hardest working people I know and he inspires me, and brings joy into my life, every day!”

Nathaniel may have a rare condition, but what stands out most is not his diagnosis, it’s his spirit. Through the unwavering love and determination of his mother, Nikki, his story is one of resilience, hope, and the undeniable power of a parent’s love.

Change Starts with Advocacy

If you’re a parent, you have the power to help shape a better future, not just for your own family, but for all families navigating a child’s journey with a severe illness or disability. Employers play a critical role in providing meaningful benefits that offer financial relief and security, and disability insurance for children is one of the most impactful ways to do that.

Ask your employer if they offer Juno’s child disability insurance. If they don’t, start the conversation. HR leaders and decision-makers need to hear directly from employees to help implement benefits that will make an impact. The more we speak up, the more companies will recognize the urgent need to support working parents with benefits that truly make a difference.

‍

At Juno, we’re working to change the system, to ensure that families facing the unexpected don’t have to navigate financial and emotional hardship alone. Whether you’re an employer looking to better support your team, a parent who wants peace of mind for your family, or someone who simply wants to learn more, we invite you to explore how Juno can help.

Visit Juno’s website to learn more and bring this benefit to your workplace.

Together, we can create a future where no family has to face this journey alone.