Meet Ellie

In the serene town of Litchfield, New Hampshire, resides a family whose story embodies resilience and rich experiences. Meet Taylor and Wakine, proud parents of two adorable children—Elliette, their vibrant four-year-old daughter, and Ben, her spirited two-year-old brother. Together with their chocolate lab, Molly, this family’s journey is a testament to the extraordinary strength found in ordinary moments.

Elliette, affectionately known as Ellie, exudes an infectious joy for life that lights up every room she enters. Yet, amidst the laughter and play, Ellie’s journey has been marked by challenges stemming from a newly found rare genetic condition called Rhobtb2 Syndrome. This diagnosis, though rare, has profound implications for Ellie’s daily life, affecting her mobility, speech, and overall development. This is her story.

Ellie entered the world at 41 weeks, displaying initial signs of a healthy newborn. She slept, ate, and began rolling over at three months old. However, by the time Ellie reached nine months, she began experiencing frequent falls in her attempts to stand. Alarmed by these developments, Taylor sought answers, initiating a journey through various medical avenues. Despite these efforts, x-rays conducted by an orthopedician revealed nothing amiss.

Dissatisfied with the lack of clarity, Taylor persisted, exploring further avenues to understand Ellie’s delays. During a particular physical therapy session, a new therapist suggested the possibility of low muscle tone—a notion that resonated deeply with Taylor.

“This whole time I thought I was going crazy,” Taylor reflects. “It was the first time I had heard anything about low muscle tone. I delved into research and discovered that it’s typically a symptom of an underlying condition. People don’t just have low muscle tone.”

In a stroke of fortune, this physical therapist facilitated a connection with a neurologist. Yet, even after undergoing MRIs, no concrete concerns emerged. It was then that Taylor resolved to pursue genetic testing.

Following a series of tests and a prolonged wait, the family finally received the results—a pivotal moment unfolding as Ellie embarked on her second year of life. The diagnosis revealed a super rare genetic condition known as Rhobtb2 syndrome, a discovery made only in 2018. Across the globe, a mere twelve cases were documented—a revelation that underscored the uniqueness of Ellie’s journey.

“It was a bittersweet moment,” Taylor shares, reflecting on the pivotal point when they received Ellie’s diagnosis. “No parent really wants an answer as to why their child isn’t progressing. You want to hear that they’ll catch up and everything will be fine. Getting an explanation for Ellie’s delays was a hard moment because it confirmed something was going on.”

Through a quick Google search, one wouldn’t find much about Rhobtb2 syndrome. “Yes, I googled it,” Taylor admits. “Only a handful of articles popped up, mostly stating that there are about 12 kids in the world with this diagnosis. A signature symptom of this disease was epilepsy. The kids may never speak, walk, or eat food by mouth. They will be severely intellectually disabled. They may also suffer from movement disorders where they can develop dystonia, which is very painful.”

From that pivotal moment onward, their lives became intertwined with therapies, specialist appointments, and a myriad of challenges that tested their resilience. However, through the support of a dedicated Facebook group, Taylor and Wakine discovered a glimmer of hope.

“What the literature isn’t telling is that there is a range,” Taylor explains. “Not every case is the same. A lot of kids in the group got diagnosed early on because they had seizures at a very young age.”

At this time, Ellie had never shown signs of epilepsy until one unfortunate day when she took a tumble down the stairs. After ten minutes, Taylor noticed that she was not looking well.

“We were on our way to Ben’s two-week appointment that turned into an appointment for Ellie. Within minutes of the appointment, Ellie had her first seizure. Even being a nurse, I was never prepared to see that happen to my child,” Taylor recalls.

This was the moment when the family learned that even a little trauma can trigger a symptom in the diagnosis. Ellie ended up being life-flighted to Boston Children’s Hospital; luckily, she woke up the next day feeling good. After 24 hours, the family was discharged home with seizure medication.

By the time Ellie was three, the family was on high alert for minor head trauma, but they still hadn’t seen the extent of what could happen. One day, Ellie had another little fall off the couch. Wakine monitored her and made sure she stayed awake for some time to ensure everything was fine. After an hour, she didn’t have a seizure, so things were looking up.

“We put Ellie down for a nap, and she stayed asleep for over three hours. I went to wake her, and as I looked closer, I noticed her eyes were partially opened, no movement, clenched fist, and her right arm and leg locked up,” Taylor shares.

This resulted in another flight to Boston’s Children where Ellie immediately had an MRI. Results showed that the entire left side of the brain was extremely swollen. Ellie ended up spending two weeks at the hospital.

“For ten days, she had zero movement on her right side. She went from running that morning to not being able to lift her head. She lost everything,” Taylor shares.

By the end of the stay, Ellie was able to move her head, move her eyes, could swallow, and was starting to get some of her neck strength back with a little movement in her right leg. She continued to have zero movement in her right arm. It wouldn’t be another five weeks until Ellie would regain mobility in her right side and another two months until she could walk again.

Outside of these occurrences, Ellie has not had another seizure.

“Literally every second of every day, I worry that she will bump her head the wrong way. She lost so much the last time and with this diagnosis, we don’t really know whether she will progress, stay the same, or regress. We really lean on the other parents in the Facebook group,” Taylor shares, “Not to mention, Ellie is going to tell us what she wants to do. She is going to tell us what her life is going to look like. We’re going to let her let us know.”

While navigating uncharted territory comes with a whirlwind of emotions, Taylor and Wakine hold onto hope that more information will be shared.

“We recently found out that there is a doctor at Stanford who is showing interest in researching this disorder. It gives me hope because someone, somewhere who has the knowledge cares enough to find answers. Even if we don’t live to see the results of the research, it is hopeful to know there will be more answers in the future,” Taylor shares.

Today Ellie is four years old. On an average week, you can find Ellie at school, Monday through Thursday, where she loves entertaining her classmates and receives most of her services like speech therapy, OT, and PT. With a zest for learning and a heart full of wonder, Ellie embraces every opportunity to explore the world around her. From roaming around the yard with her brother to visits to the zoo, every moment is an opportunity for Ellie to revel in the joy of childhood.

“We try to live as typical of a life as possible, not to say there aren’t hurdles. Ellie loves being active, but I can’t put her in dance class or soccer. For her, trying new therapies are the activities that she can safely do,” Taylor explains, “Water therapy is great for her low muscle tone and hypermobile joints but she really loves hippotherapy. It’s amazing for her balance and her stamina. She lights up everytime she gets on her horse.”

Time to get loud shouters!

Throughout the month of May we will be shouting loud for Ellie!

So click here to shop now where every purchase in May will go to help with costs for hippotherapy and swim therapy for Ellie that are not covered by insurance.

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