4 brothers fighting extremely rare disease called 'cholesterol ester storage'
Doctors say critical clue helped solve this medical mystery
DETROIT – It was a chilly day last October and the Trendy brothers of Port Huron were passing the time at St. John Hospital.
Charlie, 14, and Alec, 10, were playing video games. Dakota, the oldest brother at 17, was doing homework. Brendan, 11, was talking to his mother, Rebecca.
They looked like any typical group of boys, but the Trendy brothers are about as rare as they come.
It all started with Brendan.
"He was 2 years old and he needed eye surgery," Rebecca Trendy said. "So they did the simple blood test to make sure that he was OK with surgery and it came back that all of his liver enzymes were elevated."
Something was wrong with Brendan's liver, but doctors couldn't figure out what.
"We went through a year of blood work after blood work after blood work," Trendy said.
After two years with no answers, Dakota suddenly began complaining of abdominal pain.
In the emergency room, "They came back and said, 'Well, everything looks fine and it is not his appendix, but his liver enzymes are elevated," Trendy said. "It was just kind of one of those moments where I went, 'Oh no, not again.'"
The news was distressing, but it was also a critical clue. With two brothers now affected, doctors suspected something genetic was to blame. Further tests revealed all four boys had elevated levels of cholesterol and triglycerides.
"Each kid had to have two pills, three times a day, and they were horse pills," Trendy said.
But even as doctors tried to treat the symptoms, they still didn't know the root cause of the problems.
Then about a year and a half ago, Dakota got sick again. This time, they saw Dr. Hernando Lyons, a pediatric gastroenterologist at St. John Hospital in Detroit. He had met the family years earlier, when Brendan first got sick. Determined to find an answer for them, he asked his colleague, Dr. James Maciejko, a lipidologist, to meet the brothers.
"I talked to him and I told him, 'We got these four children here, and there is something we are missing here that is something genetic or metabolic, and we are missing it," Lyons said.
"I examined all four children and I took a moment to reflect on what could potentially be the genetic causes," Maciejko said. "I concluded that the genetic causes had to be due to a recessive gene."
He thought of a disease he had studied briefly as an intern decades earlier. Tests later confirmed his hunch.
"I made the confirmatory diagnosis of cholesterol ester storage disease," Maciejko said.
It was rare. Extremely rare.
"These four boys are the first to be diagnosed in the state of Michigan," Maciejko said.
After years of misdiagnoses and few answers, the Trendy family was stunned.
"He just kind of figured it out, like within a week," Trendy said.
Cholesterol ester storage disease leaves the body unable to produce the enzyme that breaks down cholesterol and triglycerides. As a result, fats build up in the tissues and organs, especially the liver and blood vessels.
There are only 130 reported cases in the world. The brothers are the first case ever in which all four of four siblings are affected.
Although both of their parents are genetic carriers of the disease, each boy had just a 25 percent chance of inheriting both mutated genes and therefore, getting the disease. The odds of all four being affected? A stunning 0.4 percent.
"The chances of that are astronomical, so that's another unique aspect of these cases," Maciejko said.
He credits Lyons for not giving up.
"Dr. Lyons is the bulldog in this," Maciejko said. "That persistence of follow-up, that was the key. Had he not been that persistent, these boys would have never gotten to this point."
Cholesterol ester storage disease can cause extremely serious symptoms.
"Generally people with this disease succumb in their 30s to 40s of either liver failure cirrhosis or of heart attack or stroke," Maciejko explained.
That's because until recently, there was no treatment. But the doctors learned an experimental therapy was being tested.
"We started the process of having St. John Hospital & Medical Center be approved as an infusion site for the enzyme," Maciejko said.
For the Trendy family, it was a matter of life and death.
"Dr. Lyons and Dr. Maciejko, it has been amazing just to watch them fight for them," Trendy said. "You see first in the state, you see the first in the world kind of stuff, and that's when your eyes are really opened to the fact that this is big."
In October, the boys began receiving infusions every two weeks. They'll need to continue the treatment for life, but it's working.
"I think the prognosis is very good," Maciejko said.
The brothers are taking their new reality in stride.
"It kind of scared me at first, then when this medicine came around I realized that there is hope," Charlie said.
"There is some nervousness about it," Alec said. "But I don't feel anything wrong. I feel the same from all my friends. I don't feel any different from me and my friends."
Trendy said she is actually glad her sons weren't diagnosed until after a treatment became available.
"We would have been handed a death sentence for our boys," she said.
Each brother said they feel lucky to be in this fight together.
"It sucks that we all have it, but it's nice that we all are with it together. We all have to push through," Dakota said. "You have to make do with what you have. If you have a disease, you have a disease. You can't get rid of it. You have to just push through it."
"When I found out, I was pretty surprised, but like my two older brothers said, I'm glad that we all have this together," Brendan said.
"It's not just one brother in it. They're all in it and they're in it together," she said. "They get to fight together and they get to lean on each other."
While the fight is just beginning, they're grateful the mystery is finally solved.
"It's been a long road," Trendy said, tearfully. "Brendan is 11, and it started when he was 2. I knew I had amazing boys before all this started, but this has just really showed their character."
The boys continue to lead busy, active lives, playing multiple sports, doing marching band and going to school. They're taking their new challenge head-on.
"We are all researching it together. We are all trying to figure it out together," Rebecca Trendy said. "We have dinner conversations about genetics, and I don't think a lot of families sit around the dinner table talking about their genetics."
The infusions the boys are receiving were approved by the Food and Drug Association in December, but there is still a lot of red tape to be worked through. Doctors are studying the Trendy family's case and hope to learn much more about the disease from the boys.
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