“It takes a village to raise a child,” the old adage goes, but in some cases, a village isn’t enough.
Sometimes it takes an army.
Luckily Ava Martin, 3, of Imperial has an army of close-knit family members and friends dedicated to helping her cope with a rare, incurable condition known as Batten Disease.
“They’re an incredible family,” said Dr. Cameron Crockett, a pediatric neurologist at Washington University School of Medicine. “It’s been really great to see how well she’s done and how they’ve rallied behind her.”
Ava, the daughter of Kelsey (Paulson) and Anthony Martin of Imperial, was diagnosed last fall with the disorder, in which a genetic mutation renders the body unable to produce enzymes that remove the buildup of waste products in the cells. That eventually triggers a cascade of problems and as the disease progresses, patients experience developmental delays, regression of previously acquired skills, seizures, vision loss and eventually the loss of all cognitive functions. Life expectancy is 6-12 years.
The good news for Ava is her particular genetic mutation, known as CLN2, is the only variation for which there is a treatment. In 2017, the FDA approved the use of a drug that may slow or even stop the disease’s progression.
Since her diagnosis, Ava has received the treatment in the form of a bi-weekly infusion administered directly into her brain to replenish the enzymes her body is unable to produce.
“Each treatment costs $124,000,” said Ava’s maternal grandmother, Judy Paulson of Arnold.
She and her other daughter, Kristen Paulson, spearheaded a fundraising drive to help cover the family’s rapidly mounting medical bills, but the coronavirus crisis severely crimped those plans.
“Right now, the only thing we have going on is a GoFundMe account we set up,” Judy said.
Sales of “Ava’s Army” T-shirts have been brisk, though, and the family hopes to get some online options for fundraisers in place soon.
Seeking a diagnosis
Ava enjoyed a normal birth and babyhood and all was well until last August, when she had a seizure after taking a fall while playing at a local splash pad, her mother said. At first, doctors thought the seizure might have been concussion-related.
“In October, we were eating dinner and she just fell out of her chair with a seizure,” Kelsey said. “We called an ambulance, and they said she needed to go to the hospital.”
Tests showed a double ear infection, and Ava was prescribed antibiotics and released to go home.
“Then, when we were getting ready to leave, she had another seizure,” Kelsey said. “They sent her to Children’s (Hospital), and they diagnosed epilepsy. They put her on medication for that and told us she would probably grow out of it as she got older.”
But the seizures grew more frequent, and in December the Martins took Ava back to Children’s Hospital for more tests.
“They did a spinal tap, a CT scan, but everything looked normal,” Kelsey said. “Dr. Crockett was the one who recommended the genetic testing.”
Crockett said he suspected Ava had something more than epilepsy and wanted to find the cause as quickly as possible.
“The earlier you can start treatment, the better,” he said. “You can’t necessarily roll it back uphill, but you can keep it from rolling further down.”
The official diagnosis came in mid-January, and Ava was scheduled to get her first treatment at a Chicago-area hospital. Then, early this year, approval was granted to administer the new drug at St. Louis Children’s Hospital.
“Ava is the first to (receive the treatment) here,” Crockett said.
Ava had an access port surgically implanted in her head on Feb. 4 and got her first infusion on Feb. 11.
For the first few bi-weekly treatments, family members went along for support, but since pandemic restrictions were put in place at the hospital, only one person is allowed to go.
That task has fallen to dad Anthony, 25, who works for underground utilities company ADB.
“They can’t thaw the drug until we get there,” he said. “Once they call in the drug, it takes 90 minutes to thaw. About 30 minutes before the treatment, they give her Benadryl and Tylenol, to keep the fever down and make her drowsy.”
Ava is not a fan of the infusions.
“She’ll cry when they put the needle in, and I have to restrain her,” Anthony said. “But then, once it’s in she is OK. We move to the hospital bed and she usually falls asleep. The drug takes four hours, plus she gets 30 minutes of electrolytes.
“We get to the hospital at 7 a.m., and we get home between 4-4:30 p.m.”
Meanwhile, mom Kelsey, 26, works as a server at Bandanas Restaurant in Arnold and cares for baby Harper, born the same week Ava had her first seizure.
A rough road ahead
The Martins have settled into something of a routine. In addition to her infusions, Ava has regular appointments with her pediatrician and other medical specialists, as well as ongoing physical, occupational and speech therapy.
Although she has had no further full-blown seizures, she experiences what are called “absence seizures” (formerly known as petit mal seizures), sometimes as many as 100 in a day.
“She doesn’t really pay it much mind,” her father said. “She just kind of zones out for a second; then she comes right back.”
Ava goes to a retinal specialist regularly to monitor her vision.
“The drug doesn’t reach the retina, so she will eventually lose her vision,” Anthony said. “At her eye appointment in May, they found her left eye has mild optical nerve damage, but her right eye looks fine. We go back every six months to check.”
She also undergoes periodic swallow tests.
“Eventually she will need a feeding tube,” Anthony said. “But for now she is eating fine.”
The family is convinced the infusions are helping to keep deterioration at bay.
“She has developmental delays, but we see her learning new words, talking more than she used to,” Anthony said.
Crockett said there are some promising therapies on the horizon.
“I know they’re looking at some gene therapies,” he said. “They’re also looking at intraocular injections to stop the visual decline, which would be pretty incredible.
“The tricky thing is that this treatment is so new that ‘long-term’ is purely a guess. But the short term is encouraging; this shows great success in halting the progression.”
Financial worries
The Martins face a daunting price tag for their daughter’s treatments, which will continue throughout her life.
“Insurance covers most of the cost, but we just don’t know how that will be going forward,” Anthony said. “My employers have been great; they tell me to take as much time as I need.”
The family held a fundraiser at Granite City Brewery in February and a cornhole tournament at a local park in July, which Anthony said raised a combined $17,000.
“We can’t really plan any more until we see where this COVID thing takes us.”
The GoFundMe page for Ava Grace Martin has garnered almost $30,000 so far, and the family also set up a foundation (Avasarmy.com) to accept donations.
“We created a 501(c)3 so businesses can donate tax free,” said Ava’s grandfather, Marc Paulson. “We hope to build it over time and even maybe help other families who are going through this.”
Kristen maintains a Facebook page (Avas Journey Battling Batten Disease) and an Instagram account (ava.battling.battens) where she posts fun pictures of Ava’s adventures.
“She had a Make-a-Wish trip to Walt Disney World scheduled, but it was canceled twice,” Kristen said. “We hope to reschedule for next year. We want to get it done as quickly as we can, before she loses her sight and ability to walk.”
Meanwhile, Ava’s Army is out in full force to ensure she has as normal a childhood as possible under the circumstances.
“She is very strong-willed; she’s constantly moving, playing,” Kristen said of her niece. “We try to take her places, spend time with her and let her enjoy life. We’ll do anything we can to make sure she has a smile on her face.”
Ava’s parents have one simple request. “We ask people to keep us in their prayers,” Anthony said. “And we thank them from the bottom of our hearts for their support.”