Krabbe disease: What to know about the life-threatening disorder affecting children

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A Canadian doctor from Ontario says he would be in support of a rare, genetic disorder being added to newborn screening tests in the province, after a father in the United States made a heartbreaking post about his five-year-old son's death.

Joe Monaco lives in Oregon, a state that does not screen newborns for Krabbe disease. In an interview with Today, the father details his son’s diagnosis with the disease — one that's treatable if caught soon after birth.

Monaco says his son, Emmett, was developing normally until the age of one, which is when he stopped meeting certain milestones. Monaco says doctors had few answers, even when Emmett could no longer walk, sit, talk or eat. He was diagnosed with Krabbe disease when he was almost two-years-old.

Now, Monaco is lobbying the state of Oregon to add the disorder to newborn testing so other families don’t have to go through the experience his family suffered. Currently, only 10 states in the U.S. test all newborns for Krabbe disease, including New York, Tennessee and Georgia.

In Canada, that list doesn’t appear to exist. Health officials in Ontario, Alberta, Quebec, the Yukon and Nunavut confirm to Yahoo Canada that Krabbe disease is not part of newborn screening tests and there are no plans to add it.

However, Dr. Mark Tarnopolsky — who is a professor at McMaster University's department of pediatrics and the division head of neuromuscular and neurometabolic disorders — says he wouldn’t be surprised if Krabbe disease is soon added to the newborn screening list in Ontario.

What is Krabbe disease?

Krabbe disease is a rare, genetic degenerative disorder of the central and peripheral nervous systems, according to the Cleveland Clinic. The disease “impairs the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibres, and causes severe deterioration of mental and motor skills.”

The disorder can develop at various ages, with early onset appearing in the first few months after a baby is born. The Mount Sinai Hospital in New York says most children with this form of the disease typically die before they reach the age of two.

Late-onset Krabbe disease, which is less common, begins in late childhood or early adolescence. People with this form of the disorder generally have milder symptoms and live significantly longer.

Krabbe disease is caused due to a mutation of the GALC gene, a defect that prevents someone from making enough of a substance called galactosylceramidase.

“If mom and dad are a carrier, they have a 25 per cent of having an affected child,” Tarnopolsky says.

Krabbe disease also affects certain ethnicities, most commonly people who are of Scandinavian descent.

But overall, Tarnopolsky says the disease is rare.

“In a first-world country like in North America, it’s going to be one in 350,000 to one in 500,000 [live births],” he adds.

What are the signs and symptoms?

Symptoms vary for each person, but signs of early onset Krabbe disease can include slowed development, irritability and a failure to thrive.

As the disease progresses, it can lead to hearing loss, difficulties with chewing and eating, severe seizures as well as death.

Tarnopolsky says that usually with this disorder, a child will gain a function but eventually lose it.

“A previously acquired function is a huge red flag and that function could be talking, it could be understanding, it could be their fine motor skills or its gross motor skills like running, walking, jumping,” he explains. “Any plateau or regression is very worrisome.”

Krabbe disease is treatable

Currently, there is no cure for Krabbe disease.

But if it’s caught before symptoms begin, or in some cases of later onset, it may be treatable with a hematopoietic stem cell transplant (HSCT). HSCT uses stem cells from umbilical cord blood or bone marrow, which has been shown to extend the life of someone diagnosed with Krabbe disease.

Generally, treatment for the disorder is symptomatic and supportive.

A diagnosis for Krabbe disease can take a long time due to various tests and appointments needed. Tarnopolsky notes that if it’s not diagnosed early enough, treatment will not be effective.

“It can be many months to a year before you get the diagnosis. At that point, the child has probably undergone significant regression and irreparable damage to the brain and the peripheral nerves,” he adds.

Is it worth testing parents before they have children?

Simply put, Tarnopolsky says he would “absolutely not” test parents of the general population for the genetic disease. However, there are special circumstances in which he would recommend Krabbe screening.

“If we ran around and screened parents for all these genetic disorders, there are innumerable challenges that would come up in certain populations,” the pediatric specialist explains in his interview with Yahoo Canada. “So if parents are consanguineous, they’re first cousins or something and there’s a genetic disease in the family, then those are people who come to us for prenatal counselling and screening and various testing.”

With advances in newborn testing — as is the case in several parts of the United States — and treatment options like stem cell therapy, Tarnopolsky says he would be in support of newborn testing being added in Ontario.

“The logic behind newborn screening would be, let’s get them [affected children] before they build up irreparable damage, let’s decrease the precursor we call that substrate reduction therapy so that there’s less damage to the nerves, and therefore, we’re going to slow the disease process,” he explains. We’re almost certainly slowing it down with the stem cell transplant and kids are doing better. Will they have a later onset disease? We don’t know, but it’s better than dying in infancy.”

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