Ellena Faces Her Rare Disease with Strength and a Sense of Humor
February 25, 2021
Thirteen-year-old Ellena has CLOVES syndrome, but she refuses to let her rare disease define her. “It’s just the way I was born, and I like who I am,” she says.
When you meet Ellena, you’re quickly drawn in by her bubbly personality and positive energy. The seventh grader chats about her best friend and her love of Taylor Swift, unicorns and glitter with the same ease as when she shares what it’s like to be one of a few hundred people in the world with CLOVES syndrome.
“It’s just the way I was born, and I like who I am. I’m just a happy kid,” says the 13-year-old. Ellena is a Children’s Hospital Colorado Patient Ambassador, and she is using her platform to raise awareness and research funds for CLOVES.
The extremely rare disorder causes progressive overgrowth of tissues throughout the body. It can result in parts of the body becoming enlarged and the formation of deep birthmarks made up of malformed blood vessels. Any part of the body can be affected, with severity varying greatly for each person.
“The one thing that’s consistent about CLOVES is its inconsistency among each person’s symptoms,” says Robynn, Ellena’s mom.
A multi-systems disease, a multidisciplinary approach
Currently, there is no cure for CLOVES, so care providers aim to improve function and quality of life. Treatment primarily consists of surgery to remove the overgrowths and medical interventions to address the resulting vascular anomalies and related medical issues.
For Ellena, the effects of CLOVES already necessitated multiple surgeries and procedures at Children’s Colorado. It’s an unavoidable reality of the disease she’ll likely continue to face throughout her life. She underwent a brain hemispherectomy soon after birth, had her right foot amputated, as well as an eye surgery and a cyst removal. She has to undergo painful injections in her right hand to help loosen her muscles and will likely need hip surgery in the near future.
“It takes a village of subspecialists and a strong family to support children with this spectrum of disorders,” says Dr. Taizo Nakano, Medical Director of the Vascular Anomalies Center at Children’s Hospital Colorado, who leads Ellena’s care in collaboration with multiple departments across the hospital. “She is one of the few children who has been seen by essentially every subspeciality within our hospital. CLOVES is about as multidisciplinary as a disease gets.”
‘She’s not going to hide’
Ellena’s approach to life with a rare disorder is best described as matter-of-fact combined with a healthy sense of humor.
“She’s the first to talk to someone and educate them about her own syndrome,” Dr. Nakano says. “It’s a rare mentality. She’s going to beat them to the punch; she’s not going to hide from it.”
When Ellena began middle school, she did a presentation about CLOVES syndrome for each class she was in. She explained why it causes differences in her appearance, like having an enlarged cheek, and why she wears a prosthetic “super foot.”
“I didn’t want to have to answer a million individual questions,” Ellena says nonchalantly.
Dr. Nakano says he’s continually impressed by the grace and strength Ellena has shown throughout her journey with CLOVES.
“While she is incredibly affected by this condition, she’s selfless and has a great spirit,” he adds. “It’s patients like her that motivate us to pursue new research breakthroughs in the rapidly growing field of pediatric vascular anomalies.”
It’s that spirit and hope for a better future for CLOVES patients that keeps Dr. Nakano and the other providers at the Children’s Colorado Vascular Anomalies Center tirelessly searching for better treatments and hopefully, one day, a cure.
“The morbidity and the impact on quality of life of CLOVES is huge,” Dr. Nakano says. “In Ellena’s lifetime, we will move the field from where we must wait to react and deal with problems as they occur – to one that is preventative. We’ll be able to use targeted, personalized drug therapies to stay one step ahead and stop the tissue overgrowth. The cherry on top would be to reverse overgrowth that has already occurred. It’s not so far-fetched to think that could happen someday.”
Better treatments for vascular anomalies
With all the research and clinical advancements in modern medicine, it seems hard to believe that CLOVES Syndrome was only first described in medical literature in 2007.
CLOVES occurs when the PIK3CA gene mutates in the early stages of a fetus’ development. The mutation sends faulty instructions to the PI3K protein, causing cells to grow and divide abnormally, causing some, but not all, parts of the body to experience abnormal tissue growth. This is described as a mosaic pattern.
When this PIK3CA overgrowth pathway was discovered in recent years, it created the opportunity for research and development of drugs therapies that could inhibit its growth. It also led to new insights on a dozen other diseases falling within the same spectrum as CLOVES.
“Imagine spokes on a wheel,” Dr. Nakano says. “Ellena’s condition set off the renaissance of discovery that has led to new protein targets behind several known complex vascular anomalies that each deserve a targeted treatment.”
To uncover ways to treat these newly defined PIK3CA-related diseases, a multi-institutional research group comprised of pediatric hematologist/oncologists and patient advocacy groups was formed. Children’s Colorado, the only multidisciplinary vascular anomalies center in the Rocky Mountain region, was a founding member.
Through their collaborative work in a pediatric field that is just in its infancy, the consortium is already making great strides. Dr. Nakano and others in group are collaborating with pharmaceutical companies to expedite targeted drug treatments, including several clinical trials, and are conducting the first study of children with PIK3CA inhibitors this year.
Dr. Nakano hopes that this multidisciplinary and multi-institutional research will lead to new drugs that can treat the very genesis of Ellena’s condition. But until then, Ellena, who dreams of becoming a teacher one day, refuses to let CLOVES define her.
“My big cheek is just a part of what makes me, me,” she says with a bright smile.
Rare diseases by the numbers
Americans are affected by rare diseases
are genetic in nature
begin in childhood