It all started in February 2016. Jacqueline Botta, then 15, was in English class at H.Frank Carey High School when she started to feel uncomfortable. Minutes later, her legs were swelling, but she didn’t think much of it, attributing the bloating to an allergic reaction. Throughout the week, Botta experienced low energy, swelling and stomach pain, yet nothing was too alarming. She thought he might have the flu or a cold.
By week’s end, Botta was vomiting and had become so dehydrated that she was rushed to the emergency room. After 10 hours of testing and falling in and out of consciousness, Botta was told that she was experiencing kidney failure and was diagnosed with nephrotic syndrome, an umbrella term that describes irreversible damage to the kidneys’ filters.
“The doctor told us she had never heard about it before and told us to look it up online,” Marlene Botta, Jacqueline’s mother, recalled. “It was probably the worst way to find out that your child has an incurable disease.”
Now, after three years living with this rare, chronic disease, Jacqueline and her family have become leaders in raising awareness of nephrotic syndrome, which affects 1 in 50,000 children. With the help of State Assemblyman Edward Ra and State Sen. Anna Kaplan, the Botta family had March 27 recognized by the state as Nephrotic Syndrome Awareness Day for the second straight year.
‘It’s my new normal’
Jacqueline's daily life with nephrotic syndrome is determined by whether she wakes up bloated. If there’s no swelling, she can attend school at Carey. Thanks to the help of teacher Stephen Carpaneto and support of Sewanhaka Central High School District Superintendent Ralph Ferrie, Jacqueline is able to split her studies at school and at home with tutors. She even works once a week at her part-time job at the Philly Pretzel Factory on Franklin Avenue.
Aside from the vogmask she occasionally wears, which helps filter the air when she’s around sick people or large crowds, there are days when Jacqueline appears perfectly healthy, as though she were never sick. But then there are days when the swelling confines Jacqueline to her bed. Marlene said it can look as though Jacqueline’s been beat up.
“It feels like there’s pressure all over you body,” Jacqueline said. “I can be well one minute, and then there’s liquid beginning to form around my eyes the next.”
Jacqueline spends much of her time at NYU Langone Tisch Hospital and the Bellevue Hospital Center in Manhattan, where she is treated by Dr. Howard Trachtman, a specialist in pediatric nephrology. Tratchman has treated Jacqueline for the majority of her time living with the illness, and has become close friends with the Botta family, whom he calls to check on regularly.
Trachtman described nephrotic syndrome as one of the more difficult kidney illnesses to address because there has been comparatively little research into a cure for it. This is especially true with Jacqueline’s specific type of nephrotic syndrome, known as focal segmental glomerulosclerosis, or FSGS.
“The horrible thing about FSGS is the tremendous unmet clinical need,” Tratchman said. “We know that we are lacking on effective therapies, so we’re only able to successfully treat at most 50 percent” of patients.
Those in remission after their clinical trails can relapse. Greeta Moreau, a single mother with FSGS, shared her story online. Moreau went into remission in 2008, three years after she experienced kidney failure. For 10 years, she lived a normal life, free of nephrotic syndrome, until she awoke on May 1, 2018, with 30 pounds of swollen skin. Relapsing is common among FSGS patients.
Getting the word out
Marlene said she felt oddly prepared to help take care of daughter. She had spent 15 years watching her sister care for her own children, who suffered from cystic fibrosis, a life-shortening lung disease. Marlene said she learned a lot from her sister about how to deal with everyday life when your child has a chronic illness.
“It was like shadowing someone for a job you didn’t know you were going to have,” Marlene said.
Through caring for Jacqueline, Marlene, a self-described helicopter parent, found her calling as an advocate for nephrotic syndrome awareness. When Marlene first looked up nephrotic syndrome online, she scrolled in horror through page after page detailing symptoms, as well as drastic treatments such as dialysis and kidney transplants.
In her research, Marlene stumbled on NephCure, an international non-profit organization dedicated to finding a cure for nephrotic syndrome diseases. At that point, Marlene, who was recovering from an auto accident before Jacqueline became sick, quit her job as the outreach coordinator for the State Health Department’s Elderly Pharmaceutical Insurance Coverage program and dedicated her time to working with NephCure.
“I think my mom needed this to cope with what was going on,” Jacqueline said. “She needed to find a way to help fix it, even if she couldn’t actually fix it.”
Marlene helps organize and speak at NephCure conferences in New York and several other states. She revitalized the annual walks for NephCure at Eisenhower Park, where last year, 300 people gathered to raise about $61,000. And what time she doesn’t spend with Jacqueline or NephCure, she spreads information about Tratchman’s research and manages a Facebook group for parents of children diagnosed with the nephrotic syndrome. Marlene often takes 3 a.m. calls from parents asking for advice on how to care for their children.
Marlene partnered with the New York Police Department — her husband Anthony’s employer — to host its first Rare Diseases Day on Feb. 28, the third anniversary of Jacqueline’s diagnosis. For Anthony, who accompanies Jacqueline during her regular appointments, the event was yet another testament of his wife’s tenacity and the continued support of his peers.
“I think our goal for Jackie is to have the most normal life she can have,” Anthony said. “And if we can get her into remission — or find a cure — and have her live her life until she’s old and gray…that’d be fantastic.”