One of Aaron Bowman’s earliest memories is feeling lousy and going to the doctor for it.
He was just four years old. Specialists couldn’t find anything wrong and chalked it up to him being “an overly sensitive kid who needed to be listened to more.”
Decades of frustrating doctor’s visits later, Bowman was finally diagnosed five years ago, at age 36, with an “ultra rare” disease called Familial Chylomicronemia Syndrome (FCS).
Just one in a million people suffer from it. “When they say ‘You’re one in a million,’ I’m literally one in a million,” Bowman said. “I can say it without hyperbole.”
He likens FCS, a disease in which the body can’t process fat correctly, “to having the flu every single day of your life.” That means nausea, vomiting, diarrhea, headache, and muscle and bodily fatigue.
The amount of fat he can tolerate in a day is miniscule. “You’re looking at three potato chips. That is my fat content for the day.”
One of hallmarks of the disease is chronic pancreatitis. One in every 10 cases of it is fatal, and “I’ve had 12 bouts of pancreatitis in my lifetime so I feel like I’m a bit on borrowed time,” Bowman said.
As he spoke to the Chronicle, he had a headache, fatigue, slight nausea, and muscle aches.
But you’d never know it. He’s upbeat and has a quick smile. His pet peeve is complainers.
“I put a lot of energy into keeping a really positive mental attitude,” he said.
“I think I’m blessed to work with special needs children because I’ve not seen one of them who allows their condition to get them down,” he said. “They’re just happy to be alive.
“I’ve taken that to heart: If I can live each day like a 5-year-old with special needs, I’m golden.”
He said of his symptoms, “I think after 40 years you get used to some of it, but not all of it, because it’s constantly there.”
He also says he’s “half horse. I can keep going. Even when I have a pancreatitis attack, I just keep going.”
Pain is a hallmark not only of pancreatitis, but of the disease itself. It has made some sufferers suicidal.
Bowman’s wife Katie calls it an invisible disease because there really are no outward symptoms of it.
Bowman has never had a symptom-free day, ever. “I mean, there’s bad days and ok days, but can I say there’s a good day when I haven’t had those symptoms? No. I hope I don’t sound like I’m on my pity potty, but that’s just the truth.”
But he does know a man with FCS who, in fact, has had fully symptom-free days. The man was part of a trial for a promising drug to treat FCS, where participants had “life-changing, dramatic results,” Bowman said. The man told his wife one day that he actually felt good, and he’d never felt good a single day in his life. They both cried.
But last summer the FDA stopped the drug trial in its tracks. It even broke from custom by not giving a reason for its decision.
“This disease is already a gut punch and to give people hope and then rip it away is unbelievably unfair,” Bowman said.
He and others in the rare disease community are on a media blitz to ask that the FDA resume the drug approval process. He encouraged the public get involved by reaching out to their congressional delegation.
The goal is to get the FDA to reconsider, or at least “give us a legitimate reason why this drug that was showing so much promise was not allowed to be made,” he said.
The pressure is working, and Bowman was on a phone call to the FDA earlier this week.
Bowman said the drug passed the FDA evaluation committee, only to be declined at the final approval stage. “It very rarely goes that way, at all. This is really strange and they didn’t really give a reason.”
It’s especially ironic because last year the FDA asked drug companies to come forward with research on rare disease medicines so they could become approved.
“They said, ‘We really want to give rare diseases the time and place, and the first drug up was ours, and they say, ‘Nope! And we’re not telling you why. Good luck. Try again.’”
This FDA ruling dried up an already very small pot of research, he said. “It feels disheartening when you’re already marginalized.”
Bowman didn’t qualify for the drug trials because the trial was aimed at the single most common of the six genetic ways of getting the disease, and he was among the other five.
There are seven “founding populations” in the world for FCS. One of them is Quebec; both of Bowman’s parents can trace their lineage to Quebec, and both possessed a certain, slightly deficient gene. His sister, however, does not have the disease.
Bowman grew up in The Dalles, but moved to Seattle at age 12. He lived there 18 years before moving back home.
Because Bowman’s body can’t correctly process fats, his triglycerides – a kind of fat cell – run in the 800’s to 5,000’s, where a normal person is around 50.
When doctors see these lab results, they ask him how much he drinks, or how often he eats fast food. He has had to rebuff those questions endlessly. “Look,” he’d say emphatically, “I. Don’t. Drink.”
In fact, he’s not only a teetotaler, but he eats an impeccable diet.
A reporter asked what he can’t eat. Bowman said, “That’s a terrible question. The question should be what can I actually eat.” He eats a lot of fruit, vegetables and super-lean meat.
“Eating that clean you should feel awesome, and you don’t. That’s the other slap in the face of this. You work so hard on your diet and you’ve got nothing to show for it.”
Bowman eventually grew tired of skeptical doctors who assumed he was an alcoholic or fast food junkie. He was seeing a naturopath, who finally told him she couldn’t help him and referred him to a specialist at Oregon Health & Science University.
Within 15 minutes the doctor had him diagnosed. “He was excited,” Bowman said. “He was like, ‘Oh my God, I think you have FCS, this is the coolest thing. You’ve got to hear about this.’”
Finding out his diagnosis was a blessing. “Because it’s so isolating, like, ‘Am I crazy?’”
He said a doctor likened most fat cells in the blood stream to being the size of dinghies, while triglycerides are the size of an aircraft carrier. “We can’t get rid of triglycerides, so imagine all these aircraft carriers slogging through your blood stream. They just clog everything.”
Usually triglycerides are one of the easiest fat cells to get rid of.
Bowman was even featured in a documentary about his disease. The drug makers approached him about it after flying him and his wife out to Detroit to meet others with FCS.
“I think they found that I was passionate about helping other people and I was passionate about not letting this condition dictate who and what I was doing with my life and I think they thought other people needed to hear this with rare diseases.
“This disease does not define who I am but it is a huge part of who I am.”