Aydriana

Patient Advocacy ❯ Rare Stories ❯ Aydriana

Aydriana

Living with Batten Disease

Determined to find answers, Christine puts all of her focus on research and connecting with the Batten disease community.

Aydriana

Aydriana, Age 10

Philadelphia, PA

“Mommy, I don’t want to go blind,” said Aydriana to her mother, Christine. “You’re not going to go blind tomorrow,” she responded, reassuring her. “We’re going to figure this out. And there are a lot of people out there that want to support you.” A few months prior, Aydriana had walked into her classroom to take the annual vision test at her school. She was in the third grade and up until this point, had always maintained perfect vision. As the letters were held up across the classroom, Aydriana squinted, struggling to identify them. She couldn’t see past the first line and failed the test completely. Shortly after, it was determined that she needed prescription glasses, which only helped minimally for a short while until her migraines continued to worsen, causing her to exclaim to her parents, “Why can’t I see?”

Aydriana was sent to an opthamologist who concluded that her eyes showed signs of retinal disease similar to Stargardt macular degeneration. Not only was her sight going to get progressively worse, but she was expected to eventually lose her vision completely.

“It was a very difficult time,” recalls Linda, Aydriana’s paternal grandmother, who would help Aydriana with her homework after school every day while her parents were still at work. “Aydriana couldn’t focus or concentrate. She would almost memorize the words instead of being able to read them. We would do it over and over again and Aydriana and I would smash heads because it was so frustrating.” Battling over the school work, nobody could quite understand the reason for Aydriana’s difficulties. As her father Fred describes, “To Aydriana, nothing was fair.”

“She doesn’t know about the full extent of her disease, but she knows she’s special in some way,” explains Christine.

1/2

“We were devastated to hear that she was losing her vision,” reflects Christine.

2/2

To help Aydriana ease her frustration and discouragement. Christine set up a GoFundMe page to raise funds to take Aydriana to Australia to see her aunt before her eyes got worse.

Meanwhile, further genetic testing was administered to figure out which gene was causing Aydriana’s retinal disease. “We were devastated to hear that she was losing her vision,” reflects Christine, “but now I think, if that was all it was, it would’ve seemed like a huge blessing.” The results came back three months later and Aydriana’s family was called into the genetic counselor’s office. Fred was working all day and Aydriana was at school, so it was Christine, accompanied by her mother, Janet, who made it to the appointment.

“We got her tests back,” said the geneticist. “This is a rare and fatal condition. And there is no cure.” A moment of cold silence filled the room. Janet burst into tears, while Christine sat frozen with a blank, angry stare. From that moment on, nothing made sense. The doctor resumed speaking, but Christine did not comprehend the words. She could not believe what the doctor was saying.

The condition causing Aydriana’s retinal issue was a mutation in her CLN3 gene, a gene which provides the instructions for making a protein called battenin, critical to normal cell development. This mutation in the CLN3 gene causes a form of Batten disease, a condition that primarily targets the nervous system, with the first symptoms showing in childhood between the ages of four and eight years old. Symptoms include vision impairment, behavioral and cognitive issues, a gradual progression towards seizures, loss of movement, and early mortality.

Christine and Janet left the geneticist’s office stunned, without much guidance on what to do next. They were given some pamphlets and a few organizations to research. Once she got home, Christine started investigating. “I was obsessed with researching Batten disease,” states Christine. She took the prerogative to make another appointment with a metabolic specialist four days later, and for those days between appointments, Christine did not sleep. She spent all her time looking up information on the computer, arriving to the appointment with a long list of thorough questions. That doctor proved to be helpful, providing critical information and details about the condition. Since symptoms vary so widely from case to case, there was no truly accurate timeline that could be given for Aydriana’s specific progression. For her family, it was a surreal and terrifying waiting game. Aside from her vision loss, Aydriana was physically a fully-functional child, and it was painful to imagine her having seizures or needing the full-time assistance of a wheelchair.

An avid sports player, Aydriana played on her softball and soccer teams with vigor. Though her vision was failing, she could see out around the black spot of her retina and still hit the ball. “She can’t catch a pop fly, but she is one of the best hitters on the team,” says Fred, who has coached her team for the last three years.

“I’m not looking forward to her not being able to play soccer or softball,” he reflects. “Pretty much just being with her is all I care about. I start watching the clock and end up leaving work early just to be with her,” he remarks. Aware of the preciousness of time, Aydriana’s family is taking advantage of every moment, trying not to think too far head, and focusing on getting her the help she needs before it’s too late.

Determined to find answers, Christine puts all of her focus on research and connecting with the Batten disease community. “I’ve seen so many of these other Batten families online and in forums—at various stages—but nobody is talking about what they are personally doing to find a cure,” explains Christine. She connected with a scientific team at the American University in Lebanon that published an article about a potential treatment for CLN3. They will be presenting at Duke University this upcoming March, and invited the family to meet with them. Christine wrote to Beyond Batten, a non-profit organization targeting CLN3 specifically, asking if there was any way she could work under the umbrella of their organization with her own foundation for her daughter. A week later, she received an email from the President saying they would love to promote her foundation. Currently, seven other families raise funds under their own name, and at the end of the day, all the proceeds go to Beyond Batten and finding a cure for CLN3. “This changed my whole outlook on my life dramatically,” reflects Christine. “I was just about to go back to college and pursue marketing, and now I find myself focused on starting a non-profit to find a cure for my daughter.” “I trust any decision she makes,” says Fred, in support.

“2019 looks promising for Batten disease in terms of treatment,” says Christine. Clinical trials for gene therapies are on the horizon and Christine is hoping to get Aydriana into one as soon as possible. Beyond Batten is currently working on a proposal for the FDA with hopes to develop a combined drug treatment using two existing drugs that might significantly slow the process of this disease. “It’s not a cure, but it’s more time to find one,” says Christine.

In this time of waiting, Christine is focusing her efforts on fundraising. In the last two months, the family has raised a total of $15,000, from online campaigns. “There’s no way that somebody can tell me I’m not going to have her anymore. Not when there are treatments and cures out there,” she says. “They just need to surface. They need to be found.”

In a few months the NIH will be conducting a CLN3 study to gather as much information from every stage of CLN3 as possible. Aydriana has been invited to participate. She will visit with many doctors, getting an MRI as well as a spinal tap. It will be Aydriana’s birthday week, and though she knows about her eyes, she hasn’t yet been told specifically about CLN3.

As a nine-year-old, it is difficult to comprehend. But sitting in the living room one day after school, her mother helps her see her condition in a new light. By showing Aydriana the computer, she’s able to see all the people who have commented and left donations. “She doesn’t know about the full extent of her disease, but she knows she’s special in some way,” explains Christine. After reading all the messages, Christine says to Aydriana, “Look at how many people want to help you!” Aydriana can feel the support from her community, changing her view about her unique circumstances.

After this, Aydriana speaks from a new perspective. “You know what,” she says. “I’m glad I have this. Because maybe when I go to meet all the doctors at the study, maybe with my information, they can help other kids.” “Yes, that’s exactly it,” Christine replies. She closes the computer, and Aydriana runs across the living room giggling, chasing her new kitten. Picking him up tenderly, she sings, “This is my cat. His name is Hope.” The family adopted Hope into their family just after Aydriana’s diagnosis. Until a cure is found, it could be said that hope is truly what they need most.

You can also read this