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

She is, as it turns out, an ordinary eight-year-old girl. But in early 2022, her mother Alison noticed Ella-Mae holding books inches from her face to read and standing by the TV as she watched her favorite shows.

Alison and her husband Ryan took Ella-Mae to an optometrist who told them she had macular degeneration in her eye known as Stargardt disease which usually affects the elderly. She was referred to Children’s Mercy Hospital, where specialists recommended genetic testing to better understand what was wrong with her.

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

“It’s pretty upsetting to hear about it initially,” Alison said. “I remember when we got the news, it was like a video call. I was at home and it was like a movie. I literally broke down and cried.”

The diagnosis was devastating for a family that had already weathered a 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.

From the outside, Ella-Mae still looks like an ordinary girl who likes to spend her time fishing, playing soccer or exercising. 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 made up of cells that join together to form different tissues and organs. Those cells produce waste. But in children with Batten disease, it’s as if the body’s recycling center isn’t converting that extra waste.

The main symptoms include seizures and progressive vision loss leading to blindness. Other symptoms vary from person to person, but many experience difficulty standing, walking and speaking, poor concentration and progressive loss of language skills.

How quickly the condition accelerates also varies.

The condition usually appears in childhood. The CLN3 variety, which Ella-Mae has, usually develops between 5 and 15 years of age. Most children end up bedridden and unable to communicate.

Estimates suggest there are only 14,000 cases of Batten disease worldwide, affecting about 2 in 100,000 children. Ryan and Alison discovered that they are both genetic carriers.

There is currently 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. “A lot of people are working on different treatment options for this, but we’re not there yet.”

Sullivan says there are physical and occupational therapies available that can help people keep functioning 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 strain usually don’t live beyond their twenties.

Several studies are underway across the country to test 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 a study in Texas.

“This is a community that has really mobilized to provide support to friends and families and those patients, but it’s also really mobilized the research community at large,” Sullivan said.

Alison and Ryan Anstaett

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Miglustat could help slow the progression of Ella-Mae’s condition, but it’s not FDA-approved, so the Anstaetts will have to pay for the expensive drug out-of-pocket.

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

That was a risk the family wasn’t willing to take, but since the FDA has yet to approve the Batten disease drug, the insurance wouldn’t cover it either.

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

Miglustat costs about $20,000 a month without insurance. That means a year’s supply would earn him $240,000 a year.

With no timeline for when the drug might get the green light, if anything, the family has focused on fundraising. First, they started a GoFundMe with just under $37,000 donated so far.

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

The family also has plans for a 5k event 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 payment for the drug when times are tough. They hope they have enough money to pay for a year’s supply before Ella-Mae starts the medicine.

Ryan Anstaett says they are getting help from local organizations.

“We are not fundraisers,” he said. “It wasn’t something we normally do, but we’re going to need a lot of help figuring out how to navigate that path.”

Alison and Ryan Anstaett

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In April, the Anstaett family held a Leavenworth fundraiser with a barbecue, raffle, and auction to raise money for miglustat. In total, they raised $55,000 at the event.

Ella Mae is now legally blind. With the vision she left behind, Alison and Ryan want to imprint as many memories as possible, knowing that five to ten years from now she may not be able to commit to the same.

So far, they’ve gone to the beach to swim with dolphins, visited their grandparents, and even visited Disney World, where Ella Mae dressed up as a princess and rode across the courtyard in a carriage 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 everyone keep calling me Princess?

A few months ago, Ryan and Alison spoke with Ella-Mae’s gym 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 was an activity she enjoys.

These little things help keep your spirits up like messages of support from 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 someone needs to know something,” Ryan said. “Just share our story.”

You can find updates about Ella-Mae and Anstaett’s journey on Facebook.


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