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An experimental drug could prolong this Parkville girl's life, but it costs $20,000 per month

Alison and Ryan Anstaett
Ella-Mae Anstaett has CLN3 Batten Disease, which over time will lead to vision, loss seizures and a shorter lifespan unless the family can raise money to pay for a drug that costs $20,000 a month.

In January, the Anstaett family learned their eight-year-old daughter had Batten disease, a rare condition with a difficult — and eventually terminal — prognosis. The drug showing promise in slowing the disease isn't covered by their insurance because it's still in clinical trials.

Ella-Mae Anstaett loves gymnastics, road trips with her family and Disney princesses. She often spends the summer near the water, swimming at the pool or fishing with her little brother.

She is, to all appearances, an ordinary eight-year-old girl. But in early 2022, her mother, Alison, noticed Ella-Mae was holding books inches away from her face to read and standing near the TV when watching her favorite shows.

Alison and her husband Ryan brought Ella-Mae to an optometrist who told them she had macular degeneration in her eyes — known as Stargardt disease — which usually affects older adults. She was referred to Children's Mercy Hospital, where specialists recommended genetic testing to better understand what was wrong.

The results came back in January and were worse than expected. Ella-Mae had CLN3 Batten disease, a condition so rare it did not show up on a genetic panel when Alison was pregnant.

"Initially hearing about it is pretty soul-crushing," Alison said. "I remember when we got the news, it was like a video call. I was at home, and it was like in a movie. I literally collapsed and cried."

The diagnosis was devastating to a family that had already weathered one frightening medical diagnosis. When Ella-Mae was two years old, Alison was diagnosed with breast cancer, which is now in remission. Now, they were facing an even steeper uphill battle.

Alison and Ryan Anstaett
From the outside, Ella-Mae still seems like an ordinary girl who likes to spend time fishing, playing soccer or practicing gymnastics. But she is now legally blind and her parents want her to experience as much as possible before her vision completely fades.

The human body is comprised of cells that come together to form different tissues and organs. Those cells produce waste. But in kids with Batten disease, it's like the body's recycling center is doesn't convert that extra waste.

The primary symptoms include seizures and progressive vision loss leading to blindness. Other symptoms vary from person to person, but many have trouble standing, walking and talking, poor concentration and progressive loss of language skills.

The rate at which the condition accelerates also varies.

The condition usually appears in childhood. The CLN3 variety, which Ella-Mae has, usually develops between the ages of 5 and 15. Most children eventually become bedridden and cannot communicate.

Estimates suggest there are only 14,000 cases of Batten disease worldwide, affecting approximately 2 out of every 100,000 children. Ryan and Alison learned they are both genetic carriers.

Currently, there is no cure.

"Because it's a genetic condition, we can't go into the DNA and change the genetic code to make that disease go away," said Bonnie Sullivan, a clinical geneticist at Children's Mercy Hospital in Kansas City who worked with the Anstaett family. "Lots of people are working on different therapeutic options for that, but we're not there yet."

Sullivan says there are physical and occupational therapies available that may help people retain functioning for as long as possible and some that can reduce seizures. But stopping the disease altogether is still out of reach, and those with the CLN3 variety usually do not live beyond their twenties.

Several trials are underway across the country testing different therapies and drugs that could help slow the progression or stop the condition altogether. A drug called miglustat, which people use to treat other genetic disorders, is the focus of one trial in Texas.

"This is a community that has really mobilized as far as providing support for friends and families and those patients, but they've also really mobilized the research community in general," Sullivan said.

Alison and Ryan Anstaett
Miglustat could help slow the progression of Ella-Mae's condition but it is not FDA approved, so the Anstaetts will need to pay for expensive drug out of pocket.

Alison and Ryan learned of the trial in Texas and visited Gary Clark, a doctor at Texas Children's Hospital in Houston where the trial is taking place. While the trial shows miglustat may slow and, in some cases, stop the disease's progression, participating would mean a 50/50 chance Ella-Mae would get the placebo rather than the treatment she needs.

That was a risk the family was unwilling to take, but because the FDA has yet to approve the drug for Batten Disease, insurance would not cover it either.

"It was just this constant denial process, and then I was just like, let's just pay for it out of pocket, not really realizing the cost of it all," Alison said.

Miglustat costs about $20,000 a month without insurance. That means a year's supply would run them $240,000 each year.

With no timeline for when the drug could get the green light, if ever, the family pivoted to fundraising. First, they started a GoFundMe with a little under $37,000 donated thus far.

In April, they held a fundraiser in Leavenworth featuring a barbecue dinner with a raffle and auction. Local businesses provided food and prizes for the drawings, and hundreds of people showed up. There, they raised about $55,000.

The family also has a 5k event planned on June 24 in Parkville and a poker tournament in Kansas City in July.

Since miglustat would be a lifetime commitment, the family needs a financial cushion to support paying for the drug when times are tough. They hope to have enough money to pay for a year's supply before Ella-Mae starts the medicine.

Ryan Anstaett says they're getting help from local organizations.

"We're not fundraisers," he said. "It's not been something that we normally do, but we're gonna need a lot of help figuring out how to navigate that path."

Alison and Ryan Anstaett
In April, the Anstaett family held a fundraiser in Leavenworth featuring a barbecue meal, as well as a raffle and auction to raise money for miglustat. In total, they raised $55,000 during the event.

Ella-Mae is now legally blind. With the vision she has left, Alison and Ryan want to imprint as many memories as possible, knowing that in five to 10 years, she may not be able to engage the same way.

So far, they've gone to the beach to swim with dolphins, visited grandparents and even visited Disney World, where Ella-Mae dressed up as a princess and rode in a carriage through the courtyard as park staff and visitors serenaded her.

"You could tell by her face, she really felt like a princess," Ryan said. "She asked us, why does everybody keep calling me Princess? And I said because you're at Disney and you are a princess. She took that full on and loved it."

A few months ago, Ryan and Alison spoke with Ella-Mae's gymnastics instructor about the possibility that she may soon have to stop participating. But the instructor told them that wouldn't be necessary, and that they would help accommodate Ella-Mae if it is an activity she enjoys.

Those little things are helping keep their spirits up — like messages of support from their neighbors or home-cooked meals from friends and family. The Anstaetts say these acts of kindness give them the strength to keep raising money to get Ella-Mae the medicine she needs.

"Even if people can't donate money, just spread awareness because somebody has to know something, Ryan said. "Just share our story."

You can find updates on Ella-Mae and the Anstaett's journey on Facebook.

As KCUR's health reporter, I cover the Kansas City metro in a way that reflects our expanding understanding of what health means and the ways it touches different communities and different areas in distinct ways. I will provide a platform to amplify ideas and issues often underrepresented in the media and marginalized people and communities in an authentic and honest way that goes beyond the surface of the issues. I will endeavor to find and include in my work local experts and organizations that have their ears to the ground and a beat on the health needs of the community. Reach me at noahtaborda@kcur.org.
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