A rare disease took his son away. “Buying a small coffin is the last thing”

Krabbe disease is a rare genetic disease of the nervous system. It leads to the destruction of brain cells. Sick children do not even live to be two years old. In Emmett, he was diagnosed with the disease when he was two years old. For the next four years, his eyes grew weaker. He stopped seeing, walking, talking. If the disease was detected in time, that is within 24 hours after birth, it would give the boy a chance to cure the boy, says his father.

1. Emmett’s father — Joe Monaco, who lives in Oregon, USA, said on social media that his life changed forever after his son died
2. His son was diagnosed with the disease for a long time. He claims that if detected early in the boy’s life, it would be curable. A screening test was enough
3. More information can be found on the Onet homepage

My son’s death changed everything forever

«They are my three children. The purchase of a 3-foot-6-inch coffin is at the end of a parent’s to-do list »Joe Monaco, Business Development Manager at Motorola, began his Linkedin post with these words. He attached to the entry a photograph of two sons dressed in black, standing by their brother’s small coffin.

In the following words, Joe Monaco presents his drama as a father. Five months ago he lost his son Emmett, who he wrote was a preschooler. Emmett struggled with muscle wasting, more precisely Krabbe’s disease, from the age of two. Unfortunately, he lost the fight against the disease five months ago.

«It was 5 am in Portland, Oregon, when he died. The sun came up without it and my life changed forever. This will be my ninth Father’s Day as a dad, but it will be different than ever. It was a great honor and privilege in my life to be Emmett’s dad »wrote Joe.

History of the disease – one hundred visits to detect it

The boy’s diagnosis took a long time because, as Joe wrote, he was diagnosed with the disease “after a hundred visits to the doctors”. Within four years, Emmett had lost many of his basic skills and reflexes. He stopped walking, talking, seeing, blinking. She took care of him XNUMX hours a day, seven days a week.

Emmett could still be alive – one study was enough

However, as it turned out, timely detection of the disease, i.e. within 24 hours after birth, would give the boy a chance to cure him. Standard screening tests were enough. The parents found out about it only from one of the son’s seventeen doctors. They began to struggle to include this condition in a suite of neonatal screening tests.

“My wife decided to create a regulation in our state’s Capitol to add this disease (to the test panel – ed.) So that no other child from Oregon with Krabb would have to live and die in this pathetic state” – he emphasized in the post .

Krabbe’s disease – what kind of disease is it

Krabbe’s disease is an inherited and rare disease of the central and peripheral nervous system. It is based on the fact that the body has cells that have more than one cell nucleus. The protective myelin sheath is broken and the brain cells are destroyed. The disease causes severe damage to mental and motor skills.

It results from the lack of the basic enzyme for myelin metabolism (galactocerebrosidase). It most often affects infants before the age of 6, but it can also occur later, even in adulthood.

The disease manifests itself as excitability, unexplained fever, limb stiffness, difficulty swallowing, vomiting, convulsions, muscle weakness, spasticity, deafness and blindness, and a slowdown in mental and motor development.

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