Parent’s post about his son’s death from Krabbe goes viral as they push for newborns to be tested

Nikki and Joe Monaco were devastated when their son Emmett died at age 5 from a genetic disease earlier this year. Then they learned that in 10 states, newborn babies are screened for the disease their child had, and it’s treatable.

Born in a state without screening tests, Emmett, a friendly and smiling boy, lost the ability to walk, eat and speak before he died of a disease called Krabbe. Now his parents are lobbying more states to screen for the disease, so other parents don’t have to endure the same loss.

Emmett’s family suspected something was wrong before he was diagnosed. When Emmett was 1 year old, he missed some milestones. Over the next eight months, the family saw dozens of doctors for nearly 100 appointments to understand why he stopped developing and began to deteriorate.

I have a decision to make. I can let the pain swallow me up or I can take that energy and use it to help other families.

Nikki Monaco

“He lost not only the ability to walk, but also the ability to sit up on his own. He lost the ability to eat and started losing the ability to speak,” Joe Monaco, 37, of Beaverton, Oregon, told TODAY. “He just couldn’t move. He was just lying in one spot on the couch.”

Finally, the doctors ordered one more blood test and found out what was wrong: Emmett had a rare and fatal disease called Krabbe.

As Joe Monaco wondered how to let his colleagues know that his son Emmett had passed away, he decided to write a post on Linkedin.  That moving tribute to his son went viral.
As Joe Monaco wondered how to let his colleagues know that his son Emmett had passed away, he decided to write a post on Linkedin. That moving tribute to his son went viral. Courtesy of Apple Blossom Photography

“There is a possible treatment option,” said Joe Monaco. “Parents may choose to treat their child if he is diagnosed early enough, really before (they) become symptomatic.” Emmett’s diagnosis came too late and treatment couldn’t help him. That’s when the Monacos took advantage of his pain, anger and frustration to pressure Oregon to include Krabbe in their screenings for newborns. So far, they have been unsuccessful, but they have no plans to stop.

“I was so heartbroken and felt like I had failed my son because I had been pushing and pushing and digging and it was still too late,” Nikki Monaco, 35, told TODAY Parents. “I have a decision to make. I can either let myself be swallowed up by the pain or I can take that energy and use it to help other families and future children.”

From childhood to illness

Although Emmett was born two weeks early, he developed normally and soon became a social butterfly.

“He was the sweetest kid. I always said she never met a stranger, just a friend she hadn’t made yet,” said Nikki Monaco, who worked as a nurse until she became Emmett’s full-time caregiver. “He, for example, was in the church nursery and he saw a child crying and, although he could not crawl, he found a way to roll, he would approach them to give that child the toy with which he I was playing. .”

The Monaco Family: After Emmett's death, his parents are trying to turn their grief into purpose.
The Monaco Family: After Emmett’s death, his parents are trying to turn their grief into purpose.Courtesy of Apple Blossom Photography

When he was 1 year old, he stopped meeting milestones. After waiting months to see a neurologist, the doctor couldn’t feel Emmett’s deep tendon reflexes and recommended the family see a neuromuscular specialist.

“They told us he would be the first kid in dodgeball and he would never be an Olympian, but they weren’t too worried,” Nikki Monaco said. “My mother’s instinct, if you will, knew that something was terribly wrong.”

Emmett was a social butterfly, always making friends even when he couldn't walk or talk.  His family misses his sweet personality, but he turned his tragic death into defense of other families.
Emmett was a social butterfly, always making friends even when he couldn’t walk or talk. His family misses his sweet personality, but he turned his tragic death into defense of other families.Courtesy of Apple Blossom Photography

The family wanted to have genetic testing, but learned that other tests were needed before insurance would cover genetic testing. Test after test came back normal.

“There was nothing wrong,” Nikki Monaco said. “I pushed again. I said, ‘I understand what you’re saying, it’s normal, but where do we go from here? Because obviously there’s a reason we get these tests.’”

When Joe and Nikki Monaco noticed Emmett regressing, the doctors began to take them more seriously. Then a doctor revealed that a test had shown a small problem.

It was fun to see his personality come out because he was a bit stinky at times. I really enjoyed that.

joe monaco

“It went from a mild abnormality to being told by the head of neurology that there was an obvious delay in that test that we were told was normal,” Nikki Monaco said.

Still, the doctors had few answers as Emmett could no longer walk, sit, talk or eat. They decided to send him to a rare disease program in San Francisco; the doctors did one more blood test before he could be accepted there.

“(They said), You have to check one more box. It’s a bit silly. The test will tell us nothing. It’s just a formality,’” recalled Joe Monaco. “This test should have been done months earlier… In fact, he gave us the answer.”

He was diagnosed with Krabbe on January 25, 2018, when he was almost 2 years old.

Towards the end of his life, Emmett couldn't see and often woke up screaming.  Nothing calmed him down except when mom Nikki Monaco hugged him.
Towards the end of his life, Emmett couldn’t see and often woke up screaming. Nothing calmed him down except when mom Nikki Monaco hugged him.Courtesy of the Monaco family

Krabbe’s disease

Krabbe disease is a rare genetic condition that is inherited when both parents carry the gene.

“It is a fatal disease that affects brain development and occurs predominantly in very young infants,” Joanne Kurtzberg, MD, Jerome S. Harris Distinguished Professor of Pediatrics at Duke University School of Medicine, told TODAY Parents. “(It is) caused by a mutation in a gene that encodes an enzyme that is necessary for brain development.”

Myelin covers nerves in the brain “like insulation on wires,” Kurtzberg explained. But in kids with Krabbe, the mutated enzyme means they can’t myelinate their nerves.

“If you can’t cover those nerves, they die,” Kurtzberg said.

Babies born with Krabbe show no immediate symptoms. Over weeks or months, they begin to develop problems such as difficulty eating. However, because it is so rare, these babies are often misdiagnosed as having colic or reflux. That means they don’t get a Krabbe diagnosis until it’s too late.

About nine months before he died, Emmett lost his sight and woke up screaming in fear. Nothing calmed him down more than his mom Nikki hugging him.

“Babies will smile and maybe start to lift their heads at 2 months of age, but then they start to lose that and never have normal development,” Kurtzberg said. “By the time they are 5 or 6 months old, they are spastic, which means they are very stiff. They have seizures. They are often blind. They are extraordinarily irritable because the brain is irritated. So the mom, on top of all this, can’t really comfort the baby.”

Babies can have Late Infant Krabbe, Juvenile Krabbe, or Adult Krabbe. Without treatment, babies die, although children and adults who develop late forms tend to live longer. If babies receive an umbilical cord blood stem cell transplant within the first month of life, their lives can be extended. The problem is that most babies are not diagnosed until they develop symptoms, which is too late. Babies who are screened undergo chemotherapy to kill the bone marrow and immune system and then receive donor cells.

Stem cell transplants have been done for “about 20 years and seem to extend the life of most babies in general for at least 20 years,” Kurtzberg said.

Emmett made friends wherever he went by being kind and generous.
Emmett made friends wherever he went by being kind and generous.Courtesy of the Monaco family

With treatment, Kurtzberg said, “the brain can undergo normal development. That will mean that the baby will smile, coo, be able to feed, be able to sit and stand and will have normal development that a baby would go through.”

Emmett taught himself to blink to communicate: once for yes, twice for no, and three times for “I love you.”

According to Krabbe Connect, only 10 states test for Krabbe: New York, Missouri, Ohio, Kentucky, Tennessee, Illinois, New Jersey, Indiana, Georgia, and Pennsylvania. That means babies like Emmett in other states are often not diagnosed in time to get treatment. While the federal government mandates some newborn screening tests, states determine whether they screen for other, less common conditions.

“Estimates are that it probably occurs in one in 100,000 births, but it may even be rarer than that,” Kurtzberg said. “If a state has to spend money on healthcare for living children or screening for Krabbe, they probably won’t go for screening.”

Life with Krabbe and life without Emmett

As Krabbe progressed, Emmett’s health worsened. Still, the Monacos gave him a full life, including traveling, riding horses, and playing with his brothers.

“We weren’t going to live in fear,” said Nikki Monaco. “We went to Disneyland with him. We take him camping. We went to Montana on a road trip. We did the things because we want him to live his life to the fullest.”

As a nurse and a mother, Nikki Monaco knew something was wrong when Emmett started to back down, so she kept pressing the doctors for answers.
As a nurse and a mother, Nikki Monaco knew something was wrong when Emmett started to back down, so she kept pressing the doctors for answers. Courtesy of the Monaco family

The Monacos’ faith helped them as they dealt with his illness and death, and believing they will see him again gives them comfort. About nine months before he died, Emmett lost his sight and woke up screaming in fear. Nothing calmed him down more than Nikki Monaco hugging him.

“It was important to us to give him as many experiences with his brothers as we could because memories are what life is made of,” said Nikki Monaco. “But my favorite memory was hugging him.”

Emmett taught himself to blink to communicate: once for yes, twice for no, and three times for “I love you.”

“I loved asking him questions that he potentially already knew the answer to. But it was fun to see his personality come out because he was kind of stinky at times,” Joe Monaco said. “I really enjoyed that.”

For Father’s Day this year, Joe Monaco shared a heartwarming post on Linkedin about Emmett’s death, primarily as a way to notify people that Emmett had died. But it was also a call for more states, including Oregon, to test Krabbe.

“Buying a 3-foot-6 casket is at the bottom of every parent’s to-do list. Five months ago, my kindergarten son, Emmett, breathed his last as my wife and I hugged him telling him how much we love him and how amazing he is,” he shared. “This will be my ninth Father’s Day as a dad, but it will be more special than ever as I remember the greatest honor and privilege of my life: being Emmett’s dad.”

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