8-year-old New Jersey Girl Finds Hope for Rare Disease   

8-year-old New Jersey Girl Finds Hope for Rare Disease

patient Mya

At 8 years old, Mya Trujillo-Roman is an active girl. Of the many activities she’s involved in, her  favorite is jazz dance. “When you’re dancing, you basically express your feelings and you just feel so free,” she says. “Also, you can sing while you’re dancing—and I love smiling.”

But Mya found it hard to smile and even move when, at age 5, she started experiencing swelling in her eyes, hands, feet and stomach. “It felt stiff when I would move,” she says. “It hurt.”

Not one to let anything get in the way of what she loves doing, Mya didn’t tell her parents because she was worried that they would take her to the hospital. But her parents could see that all was not well with their spirited daughter and questioned her about it. They took her to her pediatrician, who at first believed her swelling was due to allergies.

When things didn’t clear up after trying allergy medications, Mya’s pediatrician referred her to Joseph M. Sanzari Children's Hospital at Hackensack University Medical Center, where Kenneth Lieberman, M.D., chief of pediatric nephrology, ordered a blood chemistry test. Testing confirmed that Mya’s kidneys were not functioning properly. She was diagnosed with idiopathic nephrotic syndrome, which is kidney dysfunction with no known cause, says Dr. Lieberman.

Answers Bring More Questions 

According to the National Institutes of Health, childhood idiopathic nephrotic syndrome is fairly rare. Fewer than five in 100,000 children worldwide are diagnosed each year. The most common cause of it in children is kidney disease, but medications, infections and genetics can also cause it. Even though one of Mya’s great-grandfathers had kidney issues, genetic testing indicated that Mya’s idiopathic nephrotic syndrome was not due to genetics.

“I was just very confused that we didn’t know where this came from,” says Oddette Roman, Mya’s mother. “I felt lost and sad that I couldn’t really do anything because there’s no cure.”

Adds Mya’s father, Paolo Trujillo: “Obviously, you want to do what you can for your kid, but when you don’t have any solutions, you feel lost. You have to put all your trust in the doctor.”

While there’s no cure for pediatric idiopathic nephrotic syndrome, it often goes away on its own in the teenage years, says Dr. Lieberman. Until that time, though, it needs to be actively treated. In most children, idiopathic nephrotic syndrome is put into remission by taking steroids for a period of time. But Mya is among a small percentage of children who is steroid-resistant, meaning her symptoms improve while she is on steroids but worsen as soon as she is tapered off them.

Clinical Trial Hope

Since long-term steroid use has side effects such as impaired growth, high blood pressure, obesity, anxiety and depression, Dr. Lieberman recommended enrolling Mya in an upcoming clinical trial of a new biologic treatment for idiopathic nephrotic syndrome. The clinical trial will test whether a medication that is already FDA-approved may also be useful in treating steroid-resistant nephrotic syndrome.

“We are the only center in this region for this clinical trial,” Dr. Lieberman says. “Our plan is to treat Mya with this new biologic, which preliminary evidence seems to indicate works in patients who are resistant to other treatments.”

As she waits for the clinical trial to begin, Mya’s symptoms are managed by restricting salt and sugar in her diet and through medications, including a low dose of steroids. While her parents are nervous but hopeful about the trial, Mya is not worried about it at all, she says: “It makes me feel special—more special than I am already.”

Next Steps & Resources:

The material provided through HealthU is intended to be used as general information only and should not replace the advice of your physician. Always consult your physician for individual care.



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