Local Chicagoans share their struggle with rare health conditions

Amy Tomasulo’s pain is so debilitating she can’t work a full-time job.

“The unpredictability of the pain and the fact that I have the pain every day, whereas some patients don’t, it just makes it too hard to do most everything,” she said.

Attacks of pain come throughout the day, without any warning most of the time. And ordinary tasks like brushing teeth can be a trigger. But a lot of the time, the pain comes out of nowhere.

Tomasulo has a rare disease, which makes daily routines a struggle. And she’s not alone. According to the National Institutes of Health, 1 in every 10 people have a rare disease, meaning 25 million to 30 million people are living with one in the U.S. (A rare disease is defined as one that affects fewer than 200,000 people in the United States at any given time.) There are more than 7,000 rare diseases. The Tribune sat down with three Chicagoland residents to discuss these illnesses.

Shawn Clark’s family was affected by retinal vasculopathy with cerebral leukoencephalopathy, or RVCL, a rare genetic disorder that affects 100% of people with mutations in the TREX1 gene. Every person has two copies of the gene, one from each parent. Those with RVCL have one normal copy of TREX1 and one mutated copy, so there’s a 50% chance of a parent passing the disease on to their children.

The condition causes the body’s small blood vessels to deteriorate. Loss of blood flow ultimately leads to progressive organ damage where the brain, retina, kidneys and liver are affected. Some patients also have thyroid disease or bone disease, called osteonecrosis, which is similar to what happens in sickle cell disease in terms of bone injury because of loss of blood flow. Diagnosed at age 45, Clark’s mom passed away from RVCL at the age of 50. Clark’s family realized his grandfather died from RVCL too, but it was only through diagnosing his mom that the dots connected.

“My mom got diagnosed 17 years ago, and we have been focused on finding a solution to this problem since the day we found out,” Clark said. According to the RVCL Research Center at the University of Pennsylvania, there are fewer than 200 known people and 50 families with RVCL in the world.

“Maybe the most important thing to know is that most families who have RVCL go years without knowing that is the disease affecting their family,” said Dr. Jonathan Miner, a rheumatologist and director of the RVCL Research Center. “If you take a family history from these patients, they’ll say, ‘One of my parents had bad multiple sclerosis that didn’t respond to treatment.’ ‘I had an aunt with severe lupus that affected the kidneys, liver, eye and brain, but it didn’t respond to treatment.’ ‘My grandmother died from what they think was a brain tumor,’ but actually, it’s all one disease — RVCL. It can mimic other conditions that are more common.”

Miner said RVCL diagnoses usually occur between ages 35 and 55. Miner, who’s been researching RVCL for the past 10 years, said his center identifies new families almost every month and there are undoubtedly others. A 31-year-old Chicagoan, who wishes to remain anonymous because she’s not out with her condition, was diagnosed with RVCL in October 2019. Her mom died in 2016 from the condition at age 55, living five years with it and with compromised motor skills. Knowing her mother had it, the Chicagoan took a genetic test to see if she had the gene mutation. The news helped her make family planning decisions.

Since losing his mother, Clark, president of Chicago’s real estate development and investment firm CRG, has made it his mission to raise funds for RVCL research in hopes of finding effective treatments or a cure. He raises money annually through “Illumination,” an immersive art event and Halloween celebration.

Inspired by Redmoon Theater’s “Boneshaker” Halloween parties and located at Vertiport Chicago on the city’s Near West Side, the theme of “Illumination” is “Circus of Light,” Clark said. He has sights set on raising $1 million on Oct. 29 for RVCL awareness and research initiatives: completing the first clinical drug trial and long-term patient monitoring study, generating models of the disease to facilitate testing of new therapies, and recruiting top researchers from prestigious universities. Miner said that while there’s not much funding for RVCL research, support from families has helped in his research.

“I really do believe that when we make progress on rare diseases, it’s going to help others with other rare diseases that maybe haven’t been studied quite as much yet,” Miner said.

On June 4, Loyola University Chicago’s Grace Hinchman woke up with a sore neck. What she thought was from sleeping on her pillow wrong escalated to a fever and “one of the worst headaches” she ever had. A visit to the hospital emergency room led to respiratory tests, a COVID-19 test and a test for meningitis — all came back negative. After returning home, the fever and headache persisted. A visit to Edward Hospital in Naperville led her to Northwestern Memorial Hospital’s intensive care unit on June 11. Then came the tonic-clonic seizures, which are full body seizures. Seizure medicine and a battery of tests followed, but nothing seemed to point to a cause.

“I just kept having seizures,” Hinchman said. “And they would get closer together for longer periods of time.” When physicians asked her questions, she wouldn’t have the answers as she couldn’t remember having the seizures.

Doctors intubated her June 17, and extubated on the June 21. The 21-year-old junior and volleyball player eventually found out she has an extremely rare condition called FIRES, febrile infection-related epilepsy syndrome. The condition affects 1 in 1,000,000 people, according to the Epilepsy Foundation.

“Our understanding of FIRES as it is right now, is that it’s inflammation in the brain,” said Dr. Ayush Batra, neurocritical care specialist at Northwestern Medicine. “Something triggers inflammation systemically in the body that then adversely affects some people’s brains. And it creates this vicious cycle where the brain is inflamed, it gets swollen, the swelling increases, it causes more seizures, which causes more swelling, which causes more inflammation. You can see how that could quickly snowball out of control.”

The condition can lead to severe neurological and cognitive injury; roughly 20% of patients who suffer from FIRES will return to their normal healthy state after successful treatment, Batra said. The remaining 80% may live with lifelong uncontrolled epilepsy or have long-lasting cognitive deficits, depending on the severity of initial seizures.

After a brief stint with physical therapists to get her back to walking regularly, the Geneva native is back on the volleyball court, on a ketogenic diet and taking medications morning and night, including the immunosuppressive drug anakinra, which has been shown to be effective in small case studies to control the disease. She was discharged from the hospital July 2.

“I think it’s changed my perspective on life and in general,” the marketing major said. “Just getting up every day is a blessing, let alone going to school and playing volleyball.”

Batra said there’s no test to see if you’re at risk for FIRES.

“The most important message to stress is that anybody who has a new onset seizure deserves and needs a comprehensive work-up because there can be relatively benign causes of new onset seizures, but there can be potential serious new onset cause of seizures, and they need to be followed closely,” Batra said. “As Grace’s case exemplifies, she went from having a fever and single seizure to being intubated and comatose with refractory seizures.”

Living in the Windy City can trigger Amy Tomasulo’s pain. Wind — cold or anything over 10 mph — triggers her pain, so she tends not to go out much.

“It’s very challenging, it’s very hard. You want to go do something and plans change either because of how I feel, I get an attack and we can’t go, or it’s too windy, we can’t go out and do what we want to do,” Tomasulo says about her and her husband, WGN-Ch. 9 morning sports anchor and reporter Pat Tomasulo. “There’s so many factors like that, that normal people would never think of, that completely control our actions.”

Amy Tomasulo was diagnosed in 2001 with trigeminal neuralgia, intense pain caused by irritation of the trigeminal nerve in the head, one of 12 pairs of nerves attached to the brain. The nerve has three branches that conduct sensations from the upper, middle and lower portions of the face, according to the NIH.

“Attacks of pain come all day, throughout the day, without any warning most of the time,” Tomasulo said. “There are things that can trigger the pain, but a lot of the time it just comes out of nowhere.” And over-the-counter pain medication doesn’t help, she said. She tried a variety of medications and none of them worked for her.

Dr. Kim Burchiel, clinical research director of the Facial Pain Research Foundation, said the incidence of new cases every year is about 0.01% to 0.02% of the population, which is a tiny fraction. “So it’s not a public health issue; but for these folks, it’s an extreme issue,” he said. “Allegedly, this is the worst pain you can have, and I totally believe that idea. It’s also called the suicide disease. People have this pain so unexpectedly and so severely that the next thing that crosses their mind is, ‘I can’t live with this. I must die.’ ”

Surgery is an option but doesn’t always work and may relieve pain only for a while. Trigeminal neuralgia is also found in older patients and is slightly more prevalent in women. Genetics may play a role, Burchiel said.

The Tomasulos established the Facial Pain Research Foundation in 2011 to help find a cure for trigeminal neuralgia and related neuropathic facial pain. Pat Tomasulo said their annual fundraising event “Laugh Your Face Off!” raised over $500,000 this fall and will go toward research. The foundation started with two research projects and now is up to 10, said Pat Tomasulo, a foundation trustee. With one clinical trial underway, the foundation is looking to start another.

Despite her debilitating pain, Amy Tomasulo said she was lucky to be diagnosed properly all those years ago. “Most (trigeminal neuralgia) patients go to dentists and get teeth pulled and go get sinus surgeries or get misdiagnosed with conditions they don’t have or just get told, ‘We don’t know what’s wrong,’ for years,” she said.

“We know some patients who went 20 years without a diagnosis,” Pat Tomasulo said. “I think that’s been probably one of the most rewarding aspects of what Amy and I do to raise awareness with the foundation, is that every now and again we’ll get an email from somebody saying, ‘I had no idea what I had. The doctors had no idea what I had. I read about what you guys are doing. I said, this is exactly what it is, and got a diagnosis.’ ”

Amy Tomasulo is happy to see progress. “It is great that more people are networking now and being able to reach out and connect with each other, at least to have a support system and support groups,” she said. “But the research is definitely imperative in figuring out how to treat and cure this disease.”

“Illumination” will be held at 9 p.m. Saturday at Vertiport Chicago, 1339 S. Wood St. Tickets start at $150.

drockett@chicagotribune.com