Frank Rivera knew something was wrong. It was 2004, and the New Yorker was working at a medical supply company in Clearwater, Florida.
“In the back, we would clean iron lungs and wheelchairs with heavy chemicals, but we didn’t have proper ventilation,” he said. “One day I had trouble breathing and went to a doctor at USF [University of South Florida] who later diagnosed me with lung cancer.”
Rivera was put on a long-term regimen of chemotheraphy and radiation, later moving to Oklahoma and continuing the treatment there. Doctors declined to operate on him, he said, because they believed the cancer had spread to all four quadrants of his lungs. At one point, he was down to 98 pounds but was later told his cancer was in remission. Plagued by persistent stomach problems, he eventually returned to New York, and in January 2011, checked into Mather Hospital in Port Jefferson.
“They did a CT scan and asked me, ‘do you know you have masses in your lungs?’ I’m thinking the cancer came back. So they did a biopsy and told me I had sarcoidosis,” he said. “I had gone through four years of chemo and radiation for a disease I never had.”
Rivera received official confirmation of his pulmonary sarcoidosis from Stony Brook University Hospital in April 2011. He then continued treatment at Mount Sinai Hospital’s Sarcoidosis Center NYC, where specialists recognized his 2004 misdiagnosis.
Sarcoidosis, which has no cure, is especially prevalent among firefighters and emergency personnel in the aftermath of 9/11. In fact, an estimated 70 percent of first responders developed lung problems during and after the Sept. 11, 2001, terrorist attack that destroyed New York’s World Trade Center.
The disease, which is characterized by the formation of granulomas, or tiny clumps of inflammatory cells, in one or more organs of the body. If left unchecked, chronic inflammation can lead to fibrosis, or permanent thickening or scarring of organ tissue — particularly the lungs and lymph nodes.
“You have to have the gene in your body, and chemicals accelerate that gene. It would have stayed dormant if I didn’t get the chemicals in my system,” Rivera said. “I happened to be lucky.”
Living with constant pain
Rivera, 50, is prominent in the rare disease community. The president of Sarcoidosis of Long Island — a nonprofit based in Coram, New York — he’s also a community engagement liaison with the National Organization for Rare Disorders (NORD) and founder of the newly established MentallyARare group.
Rivera used to be a competitive long-distance runner — until he got sick.
“In 1994, I ran the New York Marathon in two hours and 30 minutes; the record is 2:06,” he said. But a decade later, things started going downhill. “Once I went out on a run and couldn’t breathe. I couldn’t even make half a mile. I had to call a cab to take me home.”
Those years of radiation, said Rivera, weakened his body and made his white blood cells go into overdrive, causing severe weight loss and making him extremely susceptible to colds and other infections.
“I have it neurologically now. It’s in my brain,” he told Sarcoidosis News on the sidelines of the recent NORD Rare Disease Summit in Washington, D.C. “My white blood cells clump up to form masses. My white blood cell count is 3,000; normal is 1,000. The disease is now in 80 percent of my body. It’s easier for me to say where it’s not. I don’t have it in my liver or my kidneys. I also don’t have it in my heart, but I have it in the fluid around my heart.”
A pulmonary function test, performed in 2012, scored 65 percent. A normal reading is 99 to 100 percent; anything under 95 percent is considered dangerous. Rivera’s back up to 95 percent, but that’s little consolation given his other health issues.
“I’m at the point where no medicines will help me. I do take a low dose of prednisone because it helps with the inflammation, and I take Cymbalta [a drug used to treat major depressive disorder in adults],” he said. “I walk with a cane. I fell before, I’ve passed out because of my neurological issues. Two and a half years ago, I put myself on a 72-hour mental watch because of the pain. Every day I live with a 7 on a pain scale of one to 10.”
Rivera and his Guyanese-born wife, Diana — an early-education teacher who’s also his caregiver — have a 14-year-old daughter.
“Some days I can’t even get out of bed. I never know when I wake up what my day is going to entail,” he said. “I can’t make plans. It’s terrible, and I feel bad for my wife.”
Mental health counseling for rare disease patients
Rivera said he sometimes felt he was more of a burden than anything else. Yet his family was always there to support him. Realizing that other rare disease patients — not only those with sarcoidosis — might not be so lucky, he decided to put together a network of mental health professionals who would offer such patients reliable and affordable counseling.
That network, MentallyARare, is still taking shape and is expected to launch in May 2018. So far, he said, more than 12,000 counselors have agreed to offer their services at a flat $10 an hour rate — both via telephone or Web chat, and face-to-face at multiple locations across the country. The organization will be based in Coram, New York, he said, estimating that such counseling services normally cost $75 to $100 per hour.
“There are 30 million rare disease patients, so we’ll try to get as many signed up as we can,” he said. “I’ve heard of so many people getting divorced because they worry about the physical aspects of their child, and forget about their own well-being.”
Kristin Angell, NORD’s associate director of membership, said Rivera has been a “fantastic” community engagement liaison in the New York metro area for her organization’s Rare Action Network program. NORD already has such “ambassadors” in 28 states, and her goal is to have one in every state by the end of 2018.
“Being diagnosed with a rare disease can be very isolating,” Angell said. “Patients can go their entire lives never meeting another patient with that disease. It’s not like cancer, where there’s a lot of information out there. It can lead to mental health issues, depression and thoughts of suicide for people who are in a lot of pain. So what Frank’s doing is definitely needed. I wish all of our volunteer advocates could be as passionate as Frank has been.”
Rivera says he plans to raise $2.5 million, thanks to the support of 11 corporations on the Forbes 500 list. The money, he said, will be used to hire paid staff as well as marketing expenses, and to finance a five-year plan that will eventually pay for all counseling services. He declined to identify the companies offering support, except to say they represent the retail, technology and distribution sectors. None of the 11 are pharmaceutical companies.
Nadia Bodkin, a board member of MentallyARare, said the project will not only provide mental health services focused specifically for rare disease patients, but that these services will be affordable and available to anyone open to receiving them.
“I have been advocating for over eight years within the rare disease space and have lost rare disease friends to depression, followed by suicide,” said Bodkin, who has Ehlers-Danlos Syndrome (EDS), a genetic connective tissue disorder.
“I know of several caregivers whose marriages have fallen apart and ended in divorce after a few years of raising a rare disease child, my parents included,” she said. “The reality that either you or your loved one may not live to see the next day because of a rare condition that few healthcare professionals understand — and where treatment is often either non-existent or experimental — can be taxing on the strongest-willed individuals.”
In fact, Rivera said that when he stopped working, the family’s income dropped in half.
“My wife is the only breadwinner,” he told us. “We’re covered [for health insurance] because she works at SUNY Stony Brook, so we have great coverage. But there are so many who don’t.”
Rivera said only two therapies for sarcoidosis are approved by the U.S. Food and Drug Administration.
“One of them is Acthar [approved for pulmonary sarcoidosis], which is very high-priced [at $34,000 a year] but it doesn’t work for me. The other is prednisone, which has terrible side effects. I ended up with a hole in my colon because of prednisone,” he said, explaining that the medication initially caused a near-fatal bout of sepsis.
Rivera recently learned he also has pneumonia — which is why he now takes a “very low dosage” of prednisone — yet he continues to be cheerful, despite the pain. We asked him how he manages to keep a smile on his face.
“Either that or I crawl into a ball,” he said. “My mind tells me, ‘yeah, you’re in pain, but you’ve gotta move forward.’ Who else is going to fight for me?”
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