Evansville child with rare spinal disease is still 'the happiest kid ever'

EVANSVILLE, Ind. – Daniele Johnson's youngest son, Anthony, was born with a rare spinal condition. It’s a diagnosis that changes everything.

Even so, “he’s just the happiest kid ever,” she said.

According to Children's National Hospital, about one in 11,000 babies in the U.S. are born with spinal muscular atrophy: a hereditary disease that can destroy nerve cells and affect motor neurons in the brain stem and spinal cord that control everything from speaking to walking to breathing.

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Anthony, 3, was born with SMA Type 0. He was diagnosed with a heart defect in utero, and doctors told Daniele her son would have to have surgery on his heart within the first week of week of his life.

Around five days old, they got the results during that surgery that Anthony was positive for SMA. Still, the now-3-year-old is keeping his spirits up.

Daniele Johnson adjusts the special seat for her son, Anthony Schmitz, 3, at their Evansville home Thursday afternoon, Sept. 8, 2022. Anthony was born with spinal muscular atrophy, a disease affecting about one in 11,000 babies in the United States. SMA destroys nerve cells and affects motor neurons in the brain stem and spinal cord.
Daniele Johnson adjusts the special seat for her son, Anthony Schmitz, 3, at their Evansville home Thursday afternoon, Sept. 8, 2022. Anthony was born with spinal muscular atrophy, a disease affecting about one in 11,000 babies in the United States. SMA destroys nerve cells and affects motor neurons in the brain stem and spinal cord.

“He can't make like full sentences or anything yet. He is developmentally delayed a little bit. But he loves to sing to the songs to his tablet and he hums and he can say a couple words,” she said. “If you bump your knee and you're like, 'ow, I hit my knee' … he laughs. It’s the funniest thing.”

What is SMA?

As soon as Anthony’s diagnosis came in, Daniele and her family started researching SMA, trying to understand how it’s going to affect both Anthony and the family as a whole.

It’s caused by defects of the survival motor neuron gene, or SMN1, according to National Institute of Neurological Disorders and Stroke. Without that gene, those nerve cells can’t properly function and eventually die.

That can lead to debilitating and sometimes fatal weakness of muscles that are used for walking, breathing, crawling and more.

Daniele Johnson does her best to keep her 3-year-old, Anthony, cool using a battery-powered fan in their Evansville home Thursday afternoon, Sept. 8, 2022. The electricity was shut off for about an hour so utility workers could repair storm damage to neighborhood power lines.
Daniele Johnson does her best to keep her 3-year-old, Anthony, cool using a battery-powered fan in their Evansville home Thursday afternoon, Sept. 8, 2022. The electricity was shut off for about an hour so utility workers could repair storm damage to neighborhood power lines.

There are multiple primary types of SMA based on the age of onset and highest physical milestone achieved, according to the NIH. Type I, known as both Werdnig-Hoffmann disease and infantile-onset SMA, is usually evident before a child turns 6-months old.

Without treatment, children never sit or stand, and many die from respiratory failure before age 2.

With type II, patients usually show their first symptoms between 6 and 18 months of age. They can sit without support but are unable to stand or walk without assistance. Some may lose the ability to stay seated independently over time without treatment.

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Type III, or Kugelberg-Welander disease, arises after patients are 18 months of age and can walk independently. The first signs are difficulty walking and running, climbing steps or rising from a chair. Leg muscles are the ones most often affected first, and kids can develop a tremor in their hands.

And in type IV, individuals develop symptoms after 21 years old, with mild to moderate muscles weakness and other symptoms.

Then there’s Anthony’s condition, called type 0, or prenatal onset SMA.

Anthony is hoisted into his bed by mom, Daniele Johnson, after a stint in his custom chair at their Evansville home Thursday afternoon, Sept. 8, 2022. Anthony is the center of the family's life and the living room serves as his bedroom.
Anthony is hoisted into his bed by mom, Daniele Johnson, after a stint in his custom chair at their Evansville home Thursday afternoon, Sept. 8, 2022. Anthony is the center of the family's life and the living room serves as his bedroom.

It’s the rarest of the all, and severely affects infants with reduced movements in utero. It can also cause heart defects, muscle weakness and missed developmental milestones, according to The National Organization for Rare Disorders. Babies born with it can die within the first year without treatment.

In Indiana, infants are tested for SMA immediately after they are born to see if they carry the gene.

Anthony's family was blindsided

Following Anthony’s diagnosis, his family was blindsided. The immediately looked into what treatments would be best for their baby boy.

There’s no cure for SMA, but treatments are available. Since 2016, three disease-modifying therapies have hit the market, but they can be horribly expensive. Some can cost millions of dollars per dosage, NPR reported.

Diagnosed with spinal muscular atrophy as a newborn, Anthony Schmitz, 3, is now on a regimen of Evrysdi to help his condition. Although a slow process, his mom, Daniele Johnson, says he's shown improvement in muscle gain and motor function.
Diagnosed with spinal muscular atrophy as a newborn, Anthony Schmitz, 3, is now on a regimen of Evrysdi to help his condition. Although a slow process, his mom, Daniele Johnson, says he's shown improvement in muscle gain and motor function.

In addition to that, many individuals have to attend physical and occupational speech therapy to assist with muscle gain and speech issues.

Daniele and Anthony had to stay in the hospital for eight months to start his treatment.

It felt like it was those two against the world, she said, especially since she wasn’t able to see her husband and three other boys, due to hospital visitation restrictions.

“I got to see them maybe once a month on the weekend. They were only able to come see Anthony like twice,” she said. “[It felt] like I had abandoned my other boys – the most terrible feeling ever.”

Anthony Schmitz, 3, takes in his favorite television show, "Masha and the Bear," as his mom, Daniele Johnson, watches him through the rails of his bed in their Evansville home Thursday afternoon, Sept. 8, 2022. The 3-year-old's diagnosis of spinal muscular atrophy as a newborn has been a constant challenge for the youngster as well as his family trying to give him the best life they can.
Anthony Schmitz, 3, takes in his favorite television show, "Masha and the Bear," as his mom, Daniele Johnson, watches him through the rails of his bed in their Evansville home Thursday afternoon, Sept. 8, 2022. The 3-year-old's diagnosis of spinal muscular atrophy as a newborn has been a constant challenge for the youngster as well as his family trying to give him the best life they can.

But she was able to connect with other mothers who are in her shoes who gave her a push throughout the whole process.

Now Anthony is on the SMA treatment Evrysdi, which he is able to do at home. It has been a big plus for everyone in the family, including his brothers, who love to dote on him.

“I just want him to just live a happy life with us,” she said.

“He is gaining so much muscle and motor function and he's got a voice out of this world,” Daniele said. “He just loves to sing and scream and laugh and play.”

Her biggest hope for her son is that he continues being one of that happiest kids you’ll ever meet.

This article originally appeared on Evansville Courier & Press: Evansville boy with rare spinal disease is staying strong and happy