AUSTIN (Nexstar) — At four months old, Sufyan Pashai is in the fight of his life.
Monochromatic leukodystrophy is an ultra-rare genetic disorder that attacks the central nervous system early in life. It can take months to years for the disease to manifest, often evading detection until it is deadly. Once symptoms reveal themselves, they are debilitating and irreversible.
It’s a fight his older brother, Mohammed, has already lost. At two years old, his disease is too far along to alleviate. His suffering has now turned into a sacrifice that could be Sufyan’s saving grace.
“It is a devastating, nightmarish disease,” said Dr. Maria Kefalas, an advocate for MLD patients whose own daughter died of the disease in 2022. “It’s like ALS and Alzheimer’s in a 2-year-old… imagine you’ve been told one child is going to die. And it’s going to be horrible, it’s going to be painful, it is a nightmare, and then you find out that your 3-month-old has the same disease and the baby looks perfectly fine.”
That’s the tragic reality the Pashai family now faces. After Mohammed’s diagnosis, the Pashais knew to test Sufyan to see if he also inherited the deadly gene. Doctors gave them an urgent ultimatum — treat Sufyan now, or lose a second son.
“He’s a very healthy kid and a happy kid, for now,” Sufyan’s father said. “Doctors are saying we have to do the treatment as soon as possible so we can save him, because when he shows symptoms, they can’t treat him anymore.”
Just a few years ago, Sufyan’s father would have had little recourse. In 2021, he and 3-month-old Mohammed escaped the Taliban takeover of Afghanistan on a U.S. warplane. He worked security for allied troops before fleeing on a humanitarian visa when the Americans evacuated. Safe in Dallas, he and his wife brought Sufyan into the world as the family’s first American citizen.
Yet, even in the U.S., treatment for MLD is a recent breakthrough. The gene used to be a ticking time bomb with no way to defuse. Now, cutting-edge gene therapy is being hailed as a miracle.
European biotechnology company Orchard Therapeutics has offered their multimillion-dollar MLD treatment to the Pashais free of charge. If Sufyan can receive it — and fast — it can repair his damaged genes and allow him to live a normal life.
“Leading experts in the world call it one of the most miraculous treatments ever invented,” Dr. Kefalas said. “This gene therapy could give this child a healthy, normal life.”
But, still, Sufyan’s father is fighting another war — this time, not against insurgents, but insurance. Even miracles cost money.
Texas Medicaid declined to cover Sufyan’s medical bills. They now face two hail-mary options: get Medicaid to reverse its decision, or raise the money to pay out-of-pocket.
Sufyan’s doctors have explained to Texas Medicaid that the level of coverage they are offering is inadequate to provide the help he needs. Even with the treatment itself donated, the Pashais expect to owe at least $300,000 for hospital stays, chemotherapy, bloodwork, outpatient care, travel, and other ancillary costs.
“We will do anything that’s possible on our end, but we don’t have anything. The only thing is just to wait,” Sufyan’s father said.
Nexstar is awaiting Texas Medicaid’s response to an inquiry regarding the reason for the Pashais denial and the standards by which they determine eligibility for similar cases.
Dr. Kefalas explained state insurers are often hesitant to cover novel treatments like the one Sufyan needs. They can be extraordinarily expensive, and Orchard Therapeutics’ treatment is not yet approved by the U.S. Food and Drug Administration.
“We are sympathetic to the pressures on Texas and all the Medicaid systems across the country. However, in this case, we have to advocate for our family. This drug is being donated. And it’s the right thing to do financially, fiscally and morally,” Dr. Kefalas said. “I understand that this is a frightening time as we move forward into a world with gene therapy. But we can’t solve the problem of the health care system in America on the back of a 3-month-old baby.”
The Pashais and their doctors are now in an excruciating waiting game as they watch the time left on hope tick down. Their family friend started a GoFundMe to raise money for medical costs if Medicaid does not reverse course.
Without treatment, Sufyan’s father said, “the only thing I can do is keep him happy while he’s alive and service whatever he needs to be happy until his last breath.”
[#item_full_content]