The Alport Syndrome Foundation (ASF) will hold its annual 5K race Sunday, April 5 in Crown Point, where its executive director Lisa Bonebrake looks forward to shining a light on an incredibly rare disease and offering help for those afflicted.
Bonebrake, a Crown Point resident, told PB Monthly she took on the role of the foundation’s executive director after being heavily involved with the organization for six years, following Alport syndrome diagnoses for both her son Grant and herself. The genetic disease, she said, is only recently gaining much-needed attention.
Bonebrake is mother to two sons: Mack, 19, and Grant, 17, both of whom she and her husband raised in La Jolla. There, she chaired the Muirlands Middle School Foundation and began the La Jolla Cluster Association, which unifies all five public schools in La Jolla, to “make sure everything we’re advocating for to the school district is good for our whole community,” Bonebrake said.
Advocacy is among Bonebrake’s top priorities. When Grant was misdiagnosed with IgA nephropathy as a toddler, “I was a young mom, and inexperienced in advocacy,” she stated. She accepted the diagnosis and managed Grant’s symptoms through annual nephrology checkups where she was told: “His labs aren’t normal, but there’s nothing we can do about it.”
It wasn’t until Grant, then a fifth-grader at Bird Rock Elementary, showed signs of significant hearing loss (confirmed by an audiologist) that Bonebrake, on pure intuition, Googled “kidney disease and hearing loss.”
Her search led her immediately to Alport Syndrome and ASF, and she began to seek a professional who would listen. Fortuitously, she called a friend she met through the La Jolla community, who connected her with the head of nephrology at Scripps and a “rockstar nephrologist with expertise in both adult and pediatric nephrology,” Bonebrake remembered. “This is the power of friendships and relationships that you can find in your neighborhood and community.”
Bonebrake is an Alport patient herself, her own childhood misdiagnosis not coming into focus until after her initial involvement with ASF led her to allow Grant to participate in a clinical trial for a new kind of drug therapy. There is currently no known or FDA-approved treatment or cure for Alport syndrome.
At Grant’s screening for the trial, the doctor told Bonebrake that Alport is genetic “and it’s highly likely I have it,” she said. “All of a sudden it clicked for me,” and she was also screened, testing positive for Alport.
“It’s so important and exciting to have this first clinical trial underway,” she continued, for it has been successful in slowing the disease progression for her and her son.
“The implications of Alport syndrome are significant and severe,” she said, adding that although there are different genetic types of the disease, their type, X-linked Alport syndrome, is most common and almost 100 percent of males with this type will go into end-stage renal failure.
“They will need a transplant at some point in their lives, often during the teen years or young adulthood,” she explained. “And as Alport is a genetic disease, the search for a live donor, which is the most effective versus cadaver donation, becomes difficult, because patients often can’t look to their families for a kidney. To further complicate the issue, because females with Alport syndrome are slower to experience disease progression, they are often misdiagnosed or erroneously told they are simply carriers of the disease.
“That’s not current thinking at all,” she continued. “Alport is harder on males, with two Xs genetically, but females do go into kidney decline.”
She said she counts herself very fortunate, however, as her kidneys are “definitely in decline, but I’m on the clinical trial, which has shown to be effective so far.”
She attributes this success — and Alport syndrome’s “finally getting some attention” —- to the work of ASF.
“We’ve created a community of the largest worldwide database of Alport patients,” she claimed, and she listed the ways ASF supports families: investing directly in Alport research; connecting researchers globally who now collaborate; and hosting annual Family Meetings that bring researchers, doctors and patients together.
“These resources, especially the Family Meetings,” she said, “help patients like Grant stop hiding the disease and meet people who understand what they’re going through.”
Alport syndrome affects some 60,000 people in the United States, although “it’s hard to know the exact number,” Bonebrake mused. “So many are undiagnosed or misdiagnosed as symptoms often present as other kidney diseases, which suggests Alport may not be as rare as we think.”
At ASF, Bonebrake said she fields e-mails and calls every day from newly-diagnosed Alport patients all over the world. “It’s emotional, because I’ve been in their shoes,” she said. “I’m so grateful that I can reach back out to them in the same way ASF reassured me.”
Of the upcoming 5K fundraiser, Bonebrake said she’s excited to host it locally.
“We’d love to see the Pacific Beach and La Jolla communities come out and participate. It’s a way to empower ourselves. It’s a way to raise funds. There are ways to be proactive, there are ways to slow the disease. We do have a support system. There’s hope.”
IF YOU GO: The 5K for Healthy Kidneys will raise funds for research and patient programs for people living with Alport syndrome. The race is open to everyone and will include stories from patient families and other activities at the finish line. It starts at 8 a.m. Sunday, April 5 at 1400 Vacation Isle Road (behind Paradise Point Resort). Registration $30; ages 13 and younger $15 at the Alport Syndrome Foundation: alportsyndrome.org