She is 14 months old and needs a drug that costs $ 2.1 million

(CNN) -

During the first months of her life, Ayah Lundt was the image of health.

Born in January last year weighing about 8.3 pounds (3.7 kilos), the bubbly girl with dark curls and bright brown eyes reached all her developmental milestones.

At six months, he was crawling and trying new foods.

Bananas and mushy broccoli were his favorites.

He didn't like avocados that much.

Then at nine months, his progress was suddenly reversed.

She couldn't lift her head while lying down, sit alone, or clap her hands, all of the things she'd done with enthusiasm before.

His legs buckled when he tried to crawl or stand.

The key red flag came when he was unable to eat oatmeal with a spoon, something he had done numerous times.

For a baby who loves his food, that was especially concerning, his mother, Mary Mithika, told CNN by phone from her home in Bornholm, Denmark.

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Ayah was diagnosed with spinal muscular atrophy (SMA), a genetic disease found in one in 10,000 children born worldwide.

Now 14 months old, her parents are in a race against time to raise $ 2 million for a one-time treatment that could save her life before she turns 2.

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The treatment is called Zolgensma.

At US $ 2.1 million a dose, it is known as the most expensive drug in the world.

"I think about the cost every day, and it weighs on me," Mithika said through tears before taking a break to compose herself.

And then I look at Ayah and see her get worse.

As a parent, what would you do if you knew that there was something that could save your child?

Ayah and her mother, Mary Mithika.

The drug could allow Ayah to keep breathing

Spinal muscular atrophy (SMA) is a progressive disease caused by a faulty gene.

The disease kills nerve cells and causes babies' muscles to wear out, which can lead to difficulty swallowing or breathing.

As their muscles deteriorate, babies with SMA develop tremors in the fingers and a curved spine.

They cannot stand or walk without assistance, and most do not survive beyond early childhood due to respiratory failure.

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Now his family is raising money to save his life

Zolgensma, the gene therapy treatment, is not a guaranteed cure.

Ayah's mother says she will never walk again.

But a one-time intravenous dose delivers a fully functional copy of the gene into the appropriate nerve cells, disrupting the child's biology and improving muscle movement and function.

The drug is not approved for universal healthcare in Denmark, the small Scandinavian nation of around 6 million people.

So Ayah's parents are raising money to treat her in the United States, where Zolgensma was approved in 2019 for use in children under the age of 2.

They started talking to Boston Children's Hospital to treat her there once they had raised enough money for the drug and the additional costs of tests and doctor visits in the US.

The race to get the funds has spread across the continents.

Mithika, Ayah's mother, is from Kenya, while her husband, Frank Lundt, is Danish.

Friends and others from their respective home countries have helped by organizing fundraisers.

But in a year marked by a pandemic and financial hardship, the family is struggling to meet its goal before Ayah turns 2.

By the end of March, they had only raised about $ 60,000.

"We only want what all parents want: the best for their children," Lundt said.

Ayah has another sister, Amira, who is 2 years old.

“We were so excited to have another princess.

She is perfect, "he added.

"She has always been such a happy child, even now with all this going on."

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At first, her parents didn't know much about the disease

Ayah's parents remembered the day they discovered that she suffered from a disease considered one of the leading genetic causes of death in infants and children.

After they noticed her increasing struggle to get through the daily tasks she had done before, they mentioned it to a nurse who made monthly visits to her home to check on the newborn's progress, a common practice in Denmark.

She referred them to a doctor.

On November 27, Ayah was diagnosed with type 2 spinal muscular atrophy, which develops in babies between 6 and 12 months.

His mother and father stood motionless while the doctor enumerated the symptoms and long-term effects of a disease that they did not fully understand.

As soon as they got home, Mithika started crying as her husband went to Google.

"All we heard from the doctor was SMA, SMA (spinal muscular atrophy)," he said.

We had so many questions.

We searched the internet to find out how bad it was.

We called doctors we knew.

We just wanted to find out as much as we could.

A week later, Ayah's doctor prescribed drugs approved in Denmark.

But her parents said it hasn't helped much and is not considered as effective as Zolgensma.

Drug maker says high cost is based on value

There have been numerous cases of children showing immediate improvement after receiving Zolgensma.

"The potential of gene therapy products to change the lives of those patients who may have faced a terminal condition, or worse, death, offers hope for the future," the FDA wrote in its approval letter.

“Children with SMA experience difficulties in performing essential life functions.

Most children with this disease do not survive beyond early childhood. '

But why is this drug so expensive?

Dave Lennon, president of Novartis Gene Therapies, the Illinois company that developed Zolgensma, says the price of treatment is relative to the value it brings to the health care system and the cost of long-term care for children with SMA.

"Treating and caring for SMA patients can cost up to ... $ 6 million in the first 10 years of a patient's life," he told CNN.

The therapy is approved for use in at least 35 countries.

But in Denmark, the Danish Council for Medicines is evaluating whether its cost should be reimbursed under the country's universal health care system.

"Zolgensma received conditional approval in the EU in May 2020 for specific SMA patients," Lennon said.

"We are working closely with the Danish authorities as they assess whether Zolgensma should be reimbursed as a treatment for SMA."

Last year, Novartis launched a lottery-style program to provide treatment for free to SMA patients younger than 2 years old.

Since then, it has allocated 100 free doses and plans to provide a similar number worldwide this year.

To prioritize those in greatest need, the company says it excludes patients from countries, including those in the EU, where the drug is approved.

Because Ayah's parents are not eligible for the lottery program, they are pinning their hopes that Denmark will agree to cover the cost of Zolgensma, or raise the $ 2.1 million themselves.

Ayah's family is trying their best

In the family home, a typical day begins when Ayah receives respiratory treatments twice a day.

His parents use continuous positive airway pressure, informally known as a CPAP machine, as a preventative form of therapy on his lungs, his father said.

Ayah is not a fan of treatment.

To calm her down, her mother softly sings "You Are My Sunshine" while placing her breathing apparatus over her daughter's nose and mouth.

Ayah also receives alternative medicine through a lumbar puncture every few months, which her mother described as similar to the epidural women receive when they have a baby.

They also try activities, such as crawling, to strengthen their small muscles.

"It's like a four-month-old girl trapped in the body of a 14-year-old girl," Mithika said.

In the months since her diagnosis, Ayah's symptoms have worsened, leaving her unable to sit up alone, lift her head while lying down, or bear weight on her legs.

She uses a small green wheelchair with straps to keep it secure.

«He gets frustrated because he can't move.

When her older sister dances around her, she tries to join her from the wheelchair, but she can't, ”said Mithika.

Every patient is different.

But in recent weeks, it has deteriorated a lot.

The setbacks have not undermined Lundt and Mithika's determination to save their daughter.

They launched a social media campaign called "Friends of Little Ayah," where they share videos of their progress and urge their followers to tag anyone who can help donate through various platforms, such as GoFundMe.

In the videos, Ayah sits in her wheelchair, blows kisses, and says "tak."

It's the Danish word for "thank you."