Every parent anticipates developmental milestones with joy — a first step, a first word, a first day at school. But for Tom and Megan Ramirez, these milestones came with fear. Their daughter, Madi, born 10 weeks early, had not begun walking by age two. She dragged herself in an unusual crawl, and instinctively, her parents knew something was wrong. What started as a small worry soon became the beginning of a long, painful, and extraordinary journey.

A Diagnosis That Shook Their World

At just two and a half years old, Madi received a diagnosis that would change the course of her life: spinal muscular atrophy (SMA). SMA is a rare, inherited disease affecting only 10,000 to 25,000 people in the United States, characterized by progressive muscle weakness. Doctors likened it to ALS in children, and the prognosis was sobering.

“There is no cure,” doctors told her parents. “She will likely die as a teenager. She will never walk. The little crawl she has mastered may fade. Her future may be confined to a wheelchair.”

The weight of the diagnosis was crushing. Megan remembers,

“Your mind goes dark. You picture everything your child will never do. And still, you have to walk into the next appointment and keep fighting.”

Building Hope, Step by Step

Madi’s family refused to surrender to despair. They created hope with their own hands. That summer, Tom built “Madi bars,” small parallel bars in their living room. Every day, Madi practiced pulling herself up, taking small, shaky steps forward. Little by little, progress came.

By age four, she could walk short distances. By five, she entered kindergarten without a wheelchair, defying expectations and igniting hope that she might continue to exceed all predictions.

Specialized Care at Stead Family Children’s Hospital

At University of Iowa Stead Family Children’s Hospital, Madi met a team of specialists: neurologists, pulmonologists, orthopedic experts, nutritionists, and more. Along the way, she received additional diagnoses, including autism, ADHD, and neurogenic bladder. Each new challenge tested her resilience, but Madi’s determination grew stronger.

For several years, her SMA progressed slowly, but around fifth and sixth grade, her condition took a dramatic turn.

A Sudden and Dangerous Decline

Muscle atrophy accelerated sharply. At age 11, Madi began experiencing violent grand mal seizures, occurring almost daily. She fell from her wheelchair, losing her four front teeth, and lost the ability to feed herself, crawl, or walk. Frustration, anger, and fear clouded her life.

“It was the worst time of her life,” Megan recalls. “She wasn’t just declining physically. She was slipping away from us.”

Further testing revealed a second rare condition: 15q duplication, explaining the seizures and the sudden developmental setbacks. With this knowledge, doctors could administer targeted medications.

The seizures stopped completely, and Madi began receiving advanced treatments to strengthen her muscles, the most effective currently available for SMA.

Recovering Strength and Spirit

Madi’s recovery was gradual but remarkable. Her smile returned first, followed by her laughter, and finally her vibrant, quirky personality — the one that had been buried beneath years of fear and exhaustion.

In 2018, she underwent 12-hour spinal surgery to correct scoliosis. Post-surgery, spinal injections for SMA became more challenging, but in 2020, she was approved for a newly released oral medication. Since then, her strength and stability have steadily improved.

“Madi became herself again,” Megan says. “Our bright, happy girl came back.”

Small Wins That Meant Everything

Even the smallest victories mattered. After losing her four front teeth in her wheelchair accident, they turned black and began to die. Madi persisted, brushing them diligently. Her orthodontic team removed the damaged teeth and used braces to create new front teeth, with future surgery planned to align her jaw properly.

Today, Madi has regained the ability to feed herself independently, though she will not walk or stand again due to the extent of muscle atrophy.

Living Fully at 17

Now 17, a high school senior, Madi thrives. She loves math, excels at card games like Uno, performs in school plays, cheers as a Sparkles cheerleader, works at a daycare, and helps at her school coffee shop. She makes friends easily and radiates joy, proving daily that ability is not defined by mobility.

Her parents, inspired by Madi’s journey, successfully advocated for SMA to be included in Iowa’s Newborn Screening Program, ensuring infants across the state can be diagnosed and treated early, before the disease steals their strength. Their advocacy now paves the way for other families to avoid the uncertainty and heartbreak they endured.

“We are so lucky and so blessed to have the best research and children’s hospital in the nation,” Megan says. “Madi’s teams of doctors have always put her first. We have always felt safe bringing her back, again and again.”

A Story of Resilience, Love, and Advocacy

Madi’s life is not measured by what she lost, but by what she continues to build: joy, purpose, resilience, and a future her earliest doctors said would never come.

Her story demonstrates:

• The power of family determination: Daily effort, creativity, and love helped Madi achieve milestones no one thought possible.

• The importance of specialized medical care: Expert teams identified complex, overlapping conditions and provided life-changing treatments.

• The impact of advocacy: Her parents’ work on newborn screening ensures early detection and treatment for countless children.

Through every challenge — SMA, seizures, surgeries, and setbacks — Madi’s spirit remained unbroken. She is a testament to the human capacity to fight, endure, and flourish against overwhelming odds.