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Fond du Lac family perseveres despite all three kids having same rare genetic disease

Posted at 6:04 PM, Jul 08, 2022
and last updated 2022-07-11 15:41:53-04

FOND DU LAC, Wis. —  A family in Fond du Lac is experiencing a medical anomaly, but that doesn't mean they have given up hope.

The Medina family has three children that all have the same rare genetic disease, spinal muscular atrophy type 1 (SMA). It affects the motor skills of a child and can hinder their ability to walk, talk, and swallow. All three of the Medina children have varying degrees of the disease.

Mateo, 11, is confined to a chair and had a tracheotomy. He can't speak or move. He has to have 24/7 care. Mateo has been to 39 states and also loves SpongeBob. Doctors said that he wouldn't live past his second birthday. But he is beating the odds. Mateo's 11th birthday is July 10.

Javier, 6, has trouble walking, talking, and swallowing. However, he still has his motor functions and can get around on his own. Javier also loves to play video games like Minecraft and Mario on his Gameboy Color he got from his grandma.

Amelia, 4, doesn't have any symptoms. Despite her pre-natal diagnosis, she has been able to develop all of her motor skills on time. This was thanks to the experimental drug Zolgensma that she was treated with at 11 days old. Today, the treatment is approved by the U.S. Food and Drug Administration. Her mom, Amy, said that Amelia was the first child in the world to receive the drug before developing symptoms. She loves to play princess and hasn't cut her hair because "princesses never cut their hair."

“Even though all three of my children have rare diseases, they’re people. They’re humans," Amy said.

According to the National Institute of Health, between 300 and 3,000 children are diagnosed with SMA. Depending on the severity of the diagnosis, the disease can be deadly. Boston Children's Hospital said that many children with a type 1 diagnosis die before their second birthday.

It hasn't been easy for the family, but they persevere. This might be a statistical anomaly, but it's their reality.

"We were blessed with three beautiful children, and they’re our world, and we just live in the moment," Amy said.

Amy and her husband Adan didn't know anything about SMA before their first child, Mateo, was diagnosed with it after his birth. Upon learning more about it, they realized they were both carriers of this disease. Afterward, they knew they had a 25 percent chance of passing the disease on to future children, but they didn't believe it would continue happening to them. However, that's exactly what happened as both Javier and Amelia were diagnosed prenatally.

"So I try to look at the good things each of my children can do. They all have, great, you know, great things that they can do. Like Javi can walk. Mateo can't walk. Here, you know, Javi can walk. Javi can’t run, but Amelia can run."

The Medinas hope to share their story with the world in order to bring awareness to this disease.

“Tons of kids come up and be like, 'is he dead?' Because he looks different. And the parents are like, 'Get over here. Get over. here' I don’t encourage parents to do that. Let the kids ask questions.”

In Wisconsin, they screen every baby for SMA. Amy hopes that if she shares her experience, other families will be able to treat the disease early on as they did with Amelia.

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