Alison Anstaett knows what it means to fight. She battled breast cancer at age 29, when her daughter, Ella-Mae, was not even 2. She remembers fighting for Ella-Mae back then, and she’s ready to do it again — though this time, it’s Ella-Mae who is fighting a disease.
In August, Ella-Mae, 8, started second grade at St. Therese, a Catholic school in Parkville. Ella-Mae loves gymnastics, Disney princesses, and art and her mother says she’s exceptionally cuddly and sweet. She’s described as a bit on the shy side, with a heart of gold. So Alison was surprised when she started getting feedback from her teacher that Ella-Mae was having behavioral problems in class.
All of this was new to Alison. She was also told that her daughter was struggling with her vision — she couldn’t see the board and was holding her books close to her nose. Ella-Mae had her vision checked within the last year, showing everything was fine, but Alison decided to take her back to the optometrist to get to the bottom of things.
Little did Alison know that this was just the beginning.
“Right then and there, we knew something was wrong because she couldn't even see the giant E [on top of the eye chart] on the highest setting that they had,” says Alison of their optometrist visit.
The optometrist said she had macular degeneration in her eyes, which usually affects the elderly, and referred Ella-Mae to a specialist at Children’s Mercy. The specialists recommended genetic testing to figure out if there was something else going on. In January, the test results told the Anstaetts that Ella-Mae had CLN3 Batten disease.
Batten disease is so rare that it didn’t even come up on the genetic testing panel that Alison had run when she was pregnant. It’s estimated that there are only 14,000 cases worldwide, affecting 2 out of every 100,000 children.
“It's a pretty scary one to look up,” says Alison. “Vision loss is usually the first sign and most go completely blind by age 10. Then, seizures start to develop and then a cognitive decline, dementia, Parkinson’s-like symptoms, eventually loss of all like speaking ability, followed by [loss of] motor function, and then it's 100% fatal.”
Ella-Mae’s diagnosis was a devastating blow to the Anstaetts. The family has only had months to adjust to their new reality and wrap their minds around what it means for their daughter. Immediately, they turned to medicine to see what could be done.
The family was told about a drug called miglustat, which is currently prescribed for other genetic diseases such as Gaucher disease. Right now, miglustat is in the second phase of clinical trials to treat Batten disease and is showing good promise. It has been shown to slow the progression of the disease, sometimes even stopping it.
Going on the medicine would be a lifetime commitment for Ella-Mae. But because miglustat is not FDA-approved for use in treating Batten disease, the Anstaett’s insurance won’t cover it.
“So far, we've raised about $30,000 [as of April]. But that would be only a month and a half's supply. And I don't want to start her on it and then not have enough funding to keep going with it.”
The Anstaetts held a fundraiser in April to raise money for Ella-Mae’s medicine. The fundraiser was at The Suburban restaurant in Leavenworth, the hometown of Ryan, Ella-Mae’s dad, and featured a barbecue dinner with a raffle and auction. Local businesses donated cookies and cakes, and friends, friends of friends, and businesses donated items from autographed Len Dawson photographs to Sporting KC tickets — even a 7-day stay in Cozumel. They sold over 200 tickets and the family was overwhelmed with support from the community.
“I’m honestly at a loss for words and overtaken by emotion like an emotional rollercoaster,” says Alison about the outpouring of support from the community. “Grateful. Blessed. Hopeful. It’s hard to put how you feel in words and give it one feeling or sentence. It’s so beautiful to see the amazing outreach. I never wanted to be put in this position. It’s every parent’s worst nightmare. But we are here. And I can truly feel we are not alone in this. And that’s what keeps us going.”
In the meantime, little things like being brought dinner by friends or having a neighborhood dance party in their driveway keep them going and keep their spirits up. A lot has been hard about Ella-Mae’s diagnosis, but the bright spot is the blessings of friends and the charity of those who hear about Ella-Mae and feel compelled to help. The family hopes to continue spreading awareness of the disease and to keep raising money through other fundraising events so they can eventually get Ella-Mae the medicine she needs.
If you would like updates on Ella-Mae or would like to reach out to the Anstaetts, you can follow their journey at Ella-Mae’s Batten Battle or email Alison at ellamaesendeaver@gmail.com. You can also read more about Batten disease or donate to Batten disease research at bdsrafoundation.org or beyondbatten.org.
“I never wanted to be put in this position,” says Alison. “It’s every parent’s worst nightmare. But we are here. And I can truly feel we are not alone in this. And that’s what keeps us going.”