This SC 8-year-old has a rare disease. The closest specialist is 1,100 miles away
If 8-year-old Faith Ruiz could go anywhere in the world, it would be Marshfield, Wisconsin.
She likes math and reading, and she watches “The Grinch” even when it’s not Christmas season. When she grows up, she hopes to be a veterinarian, a nanny, a teacher and a hotel employee. She plays with her pet bird, Chloe, who she calls “Chlo Chlo.” And, like anyone living on the Grand Strand, she loves the beach.
But with her disease, some things are hard.
Faith Ruiz is one of roughly 3,000 people in the U.S. with a genetic disease called Bardet-Biedl Syndrome (BBS), and Marshfield is home to the only specialist clinic in the country. Trying to tackle health challenges and financial obstacles in the middle of a pandemic, Faith Ruiz’s parents are trying to get their daughter to Wisconsin to begin testing and treatment.
Along with school, painting her fingernails and other kid activities, Faith Ruiz’s days include doctor’s appointments, speech therapy and an individualized education plan.
Her days also include a lot of questions.
“[She asks] questions that I can’t answer,” said her mother, Vanessa Ruiz. “‘Am I gonna die? Am I gonna see colors? Am I gonna have surgeries?’”
Details of Bardet-Biedl Syndrome
BBS often results in severe kidney issues, vision loss and obesity. The extremely rare disease affects every part of the body and touches nearly every part of patients’ lives, according to Dr. Robert Haws, who runs the Center of Excellence for Bardet-Biedl Syndrome at the Marshfield Clinic.
There is no cure.
Faith Ruiz has a tough time on the stairs and mornings are a challenge, her parents say. At 8 years old, she weighs around 175 pounds, and her hands and feet can occasionally go numb.
When Faith Ruiz was six months old, she fit into clothes meant for 12-month-old babies. That’s when her mother first noticed something was off.
For years, doctors suggested different diets: keto, 1,200 calorie, military. Nothing worked, Vanessa Ruiz said.
BBS patients have an insatiable appetite. Even when their bodies are full, “the brain doesn’t turn off their appetites,” Haws said. On top of that, BBS patients burn calories at a slower rate, leading to weight gain and obesity.
Seven years after Vanessa Ruiz first took note of her daughter’s weight, doctors diagnosed Faith Ruiz with BBS 10, a type that can present itself more severely than types of the disease that show up on different genes.
“There’s just nothing simple for them,” Haws said. “And even though they … can live to be 60, 70, 80 years of age, their life is not the same as yours or mine.”
Concerned family finds joy in small moments
To her family, Faith Ruiz is many things. To her brothers, she’s “Faithy.” To her dad, she’s “princess” or “mami.” To her mom, she’s “mama” or “baby.”
At the Ruiz house, there are lots of hugs, especially between Faith Ruiz and her dad, Javier.
“Most of the time when I come from work, she’s always waiting for me,” Javier Ruiz said. “She gives me a hug and she kisses me.”
Before a recent cardiologist appointment, she was confused and nervous, unsure what to expect. During the appointment, Faith Ruiz “thought her heart had a mouth” because of the way it appeared beating on the machine, her mom said with a laugh. That served as comic relief, allowing them both to relax a bit.
Occasionally, Faith Ruiz can talk her brothers into letting her do their hair or paint their nails. Once, because he lost a bet, Javier Ruiz Jr. begrudgingly participated while his little sister used their mom’s makeup to make him look like a clown.
But the stress of facing a debilitating disease shows. At night, Vanessa Ruiz will step into her daughter’s room to watch over her while she sleeps. Her sons, Javier Jr. and Erali Ruiz, have done the same.
“I’ll just sit there and watch her chest go up and down,” Vanessa Ruiz said. “They’re scared for her.”
Sometimes she’ll come across her husband crying at the kitchen table. When she asks him what’s wrong, he answers that he’s “just thinking about my princess.”
“Sometimes I want to cry with her and I don’t know how to deal,” Javier Ruiz said.
It weighs on the young girl’s mind, too, even if she doesn’t comprehend all the details of her disease and what it means for her future.
“That I’m gonna die ... that’s all I think about,” Faith Ruiz said, though the disease isn’t fatal and patients with BBS have a typical life expectancy.
In the midst of uncertainty and concern, moments of joy are common, too.
At a trampoline park in Myrtle Beach, Faith Ruiz often plays dodgeball with her brothers and flips into the air. Later, at the skate park, she watches her brother and pushes herself around on his skateboard on her knees.
“I go really, really fast,” she said.
Usually sporting a bright pink or purple shirt, mismatched socks and sometimes leopard print, she plays songs that have gone viral on TikTok, dancing and mouthing the words.
Vanessa Ruiz asks her daughter to perform certain dances, like the viral TikTok dance to Jason Derulo’s “Savage Love (Laxed - Siren Beat),” one of Faith Ruiz’s favorite songs. Even when she says no, she bounces to the beat, almost like she can’t help herself.
Expensive medical care creates obstacles
Getting to the Marshfield Clinic would mean a nearly 20-hour drive or an expensive flight. On top of travel costs, testing for kids with BBS generally cost $15,000 or more, Haws said. The testing takes at least two days and involves more than 15 medical consultants.
The testing varies for each patient, but usually includes an echocardiogram, ultrasound and screening for scoliosis, which occurs in about 20% of patients, Haws said. The disease can affect every organ in the body, so testing is extensive.
Vanessa Ruiz gets disability payments and drives for Uber Eats when she has time, which is harder now that her kids are home more often due to the pandemic. Javier Ruiz, who’s in the middle of the lengthy and expensive process to get permanent residency in the U.S., has had trouble finding steady work.
The cost of the medical tests are daunting, especially since Medicaid doesn’t cover this type of out-of-state care.
“If we take all our money that we have for the bills, part of me wants to jeopardize that and take her to Wisconsin, but the other part of me.… We have to have a house to live in,” Vanessa Ruiz said. “I still wouldn’t think we have enough even if I tried to do that.”
Vanessa Ruiz has started a GoFundMe page aimed at raising funds for her daughter’s medical bills. If donations from friends, neighbors and even strangers could help her daughter get medical testing done, it would be a “blessing,” Vanessa Ruiz said. As of Friday afternoon, the family has raised $2,295 of an $8,000 goal.
BBS is rare, and many physicians aren’t familiar with what it can do to the body, Haws said. The Marshfield Clinic works with local healthcare providers to do certain tests and treatments locally in hopes of having better insurance coverage. But the most extensive testing must be done in Marshfield.
“I wish we lived in a world where money isn’t part of the decision making for health care, but it is,” Haws said, adding that one employee at the clinic spends around more than half of her time working with insurance companies to get coverage.
What could BBS look like in adulthood?
It’s tough to say exactly what Faith Ruiz’s future with BBS looks like, but thanks to conversations with doctors and a Facebook support group, Vanessa Ruiz has started to piece together some possibilities.
Shortly after posting the GoFundMe page on Facebook, Vanessa Ruiz received a message from Jody Baez, another Myrtle Beach mom whose two sons have BBS.
Baez’s sons, Darrin and Kane, are both in their 20s and have been diagnosed with BBS within the last year, though the disease begins in utero and affects people for the entirety of their lives.
“After so many years, finally having answers, that was where the relief came in,” Jody Baez said.
Darrin Baez’s disease severely affected his eyesight. At 28, he now sees out of only a pinhole in his right eye. His vision gets worse at night, when he has to use someone’s shoulder to guide him when he walks. He has been considered legally blind for years.
“I cried,” Darrin Baez said of the moment he got the BBS diagnosis. “I was crying and I didn’t know what it was, but I was crying and I was confused.”
With Darrin Baez’s vision deteriorating over the years, his mom takes notice.
“He told me, it kind of broke my heart, ‘I wish I could see the Christmas lights,’” Jody Baez said. “But he can’t anymore. It’s kind of blurry for him.”
Kane Baez has been met with kidney issues as a result of BBS, which isn’t uncommon, Haws said. Around 10% of BBS patients will need a kidney transplant, usually before the age of 25.
The brothers have a lot of the same challenges with BBS and other conditions like autism or asthma. They also share many of the same interests, like walking around Brookgreen Gardens, watching YouTube videos, shooting hoops and playing with their cats, Salem, Simba and Fletcher.
“When I found out that he had the same thing as I had, I was worried,” Darrin Baez said. “I wanted to be there for him in case he wanted to cry or be someone to talk to. Kane’s not just my brother, he’s my best friend.”
Myrtle Beach family offers support
Bonding with other families with BBS is vital in understanding the disease and getting through the challenges, Haws said. It’s also important for younger children with BBS to see adults living their lives and pursuing careers, he said.
“It’s possible, she can go to high school, she can finish high school, they both have their diplomas,” Jody Baez said.
For Vanessa Ruiz, finding the Baez family meant a simultaneous combination of relief and nerves.
“It made me feel a lot better, but the part of them being blind and having kidney surgery… it’s good and it’s bad,” Vanessa Ruiz said.
When kids with diseases and disabilities get older, Baez said, resources grow more scarce. Her sons participated in the Special Olympics in Pennsylvania before the family moved to Myrtle Beach last year, but during the pandemic their activity has decreased and finding support groups has become more difficult as the brothers have grown up, even before the pandemic.
What does the future hold for BBS patients?
Faith Ruiz has appointments with an eye doctor, pediatric endocrinologist and nephrologist in the coming months, which will provide a better picture of her current health.
After that, Marshfield is hopefully the next stop.
But the GoFundMe page hasn’t taken off yet, and the Ruiz parents are starting to face the possibility that their daughter may not be able to get to Marshfield to see Haws and other doctors. If that can’t happen, the family will rely on “a lot of prayer,” Vanessa Ruiz said.
“I don’t have words for that,” Javier Ruiz said. “You have kids, you just want the best for them. And it’s kind of blocking [that] because you can’t give them the opportunity to see the future.”
There’s hope for progress in BBS treatment, Haws said. Recent success in other genetic therapy has given him reason to believe something similar could happen for BBS. He expects clinical trials could begin as soon as two years from now.
“If we can get gene therapy for people with BBS-10, we might be able to restore their vision,” Haws said. “Wow, what a gift that will be. So we focus on things like that … to help them get hope for what they can do.”
This story was originally published February 18, 2021 at 10:00 AM with the headline "This SC 8-year-old has a rare disease. The closest specialist is 1,100 miles away."
