He’s only 4 years old, but Adam Lefkowitz has already had 15 strokes, and his parents are desperate to find out why.
Adam’s father, Evan Lefkowitz, said his son is doing “worse and worse” each day. Adam can no longer see out of one eye or walk.
“He can’t open his eye and he’s weak and even when he goes to the bathroom, he rests his head on my wife’s shoulder," Lefkowitz, 35, told TODAY.
“He’s fighting and really trying, but it’s weighing on him,” Lefkowitz added. “He’s stuck in a room and wants to go out on my shoulder like he always does. It’s getting tough on him.”
The little boy from North Bellmore, N.Y., has been diagnosed with a rare and potentially fatal autoimmune disorder, but he is not responding to treatment. For the last three months, Adam has been treated for primary central nervous system vasculitis and is now at Children’s Hospital of Philadelphia (CHOP).
According to his family, doctors have disagreed about the diagnosis, even calling in experts from as far away as Canada.
“They’re throwing the book at him in regards to medication and treatment,” Lefkowitz said.
Adam’s ordeal began last August when he woke up in the night with severe headaches. His parents took him to the ER and scans showed fluid on the brain, but doctors said it might be viral and clear up.
After he was treated at Cohen Children’s Medical Center in Long Island, doctors sent Adam to CHOP. Hospital officials declined to comment on the boy’s condition for privacy reasons.
Adam has been treated with steroids and chemotherapy, but nothing has worked so far. The therapy has caused him to gain 25 pounds and his parents say he is not the boy they knew.
Just this week, Adam had another stroke on his brain stem and two in his spine.
“Frustrating is not even the word,” Adam’s mother, Dina, told the New York Daily News, which first reported the story. “We’re living in hell, really.”
Central nervous system vasculitis is inflammation of blood vessels in the brain or spine, which occurs most often alongside other autoimmune diseases. The condition can be life-threatening. Inflamed blood vessels can block the flow of oxygen, causing brain damage.
“We don’t really have a true diagnosis,” said Lefkowitz. “He definitely has some type of vasculitis, but there is something underlying that is causing the aggressiveness of it.”
The condition is more common in adults than in children, according to Dr. Irene Katzan, director of the Center for Outcomes Research and Evaluation, Neurological Institute at the Cleveland Clinic.
“What causes the inflammation is sometimes unknown,” Dr. Katzan, who did not treat Adam, told TODAY. “We look at infections or malignancies or other systemic disease.”
When no cause can be found, the disease is known as “primary.”
“It’s a bear of a diagnosis both in its rarity and difficulty in diagnosis and treatment,” she said. “This sounds like a tough case, and they are pulling out all the stops.”
Doctors are awaiting approval to try a drug, Tysabri, which has been used to treat multiple sclerosis, but they are running out of options.
“The doctors are trying everything they can. All we have is hope right now,” said Lefkowitz. “We have to have hope.”
Doctors are also performing genetic tests on the family, and the parents worry about their 2-year-old daughter, Emily.
Melanie Lefkowitz, 40, of Ithaca, N.Y., who is Adam’s aunt, said the mystery illness has taken a toll on the family.
“He’s basically been a downhill spiral,” she told TODAY.
The family’s medical bills are mounting as well, and so supporters started an online fundraising campaign. His aunt said the family was looking at hundreds of thousands of dollars in medical bills.
But the family just wants Adam to be well — and back to his sweet, playful self.
“He’s a special kid,” said Adam’s father. “Throughout all this pain and suffering, he is still that sweet little boy.”