The family of a Santa Clarita teen with Batten disease, a fatal degenerative genetic disorder, is pleading with the community for help after suddenly learning that scheduled life-saving research had been halted, and is now being faced with an urgent need for additional fundraising support.

Affectionately known as “Sebi,” Sebastian Velona was born in 2003, and was a perfectly happy, healthy young boy with a big heart for the first several years of his life, according to his mother, Teri Hughes Fox.

“He would also have the biggest heart and just want to hug everyone,” Teri said. “He just felt like, if you had a boo-boo, if you had a scrape, if you were crying, if you’re hurt, if you’re sad… He felt he could hug people and heal them with his hugs.”

Then, in October of 2007, four-year-old Sebi and his family were on vacation in Hawaii when tragedy struck.

“He collapsed in the hallway going back to the room after having a fun day swimming in the pool,” Teri said. “He collapsed and had his first seizure. We thought he was dying. We didn’t know what was wrong. He was turning blue. He was shaking. It was just horrible.”

When the family returned home, a series of tests were unable to find any cause for Sebastian’s seizure, and a neurologist deemed it a one-off “fever seizure.”

Six months later, he had a second seizure. At that point, Sebi was diagnosed with epilepsy.

“That was just the worst word at that time I’d ever heard,” Teri said. “Our world changed.”

After that came years of trial and error with medications, some of which came with side effects that further endangered Sebi’s health. Some medications resulted in mood swings and outbursts of anger, where others caused him to suffer more than 10 seizures in a day.

Eventually, Sebi’s doctors discovered a cocktail of three medications that managed to control his seizures, but the problems were just beginning.

When he was six, Sebi began to lose his vision, eventually being diagnosed with retinitis pigmentosa, a degenerative eye disease that will eventually cause him to lose his sight entirely.

“He was at school learning to read and all of a sudden, overnight, it seemed like he couldn’t see what was on the page,” Teri said. “It was fuzzy, he couldn’t read it. There was something wrong.”

It was at this time that Sebi’s family began to notice other issues developing in his behavior. He became clumsier and his speech began to slur. His parents insisted that there was something else at work, and obtained a DNA test to narrow down the cause of Sebi’s health issues in order to get him treatment.

“I’m thinking: ‘It’s not just retinitis pigmentosa and epilepsy. They’re not separate issues where my son is just developing all these horrific diseases,’” Teri said. “There’s something else wrong, everything about him is different, everything is changing and unless a doctor sees you every day, they don’t see what we’re talking about.”

After months of waiting, Sebi was diagnosed with CLN8 Batten disease in 2012. Batten disease is a disorder that primarily affects the nervous system, leading to neurological impairment, including developmental regression, seizures, blindness, behavior changes and dementia, according to health officials.

Teri described Batten disease as similar to a juvenile form of amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease. The two conditions share many of the same symptoms.

The condition occurs in an estimated two-to four-in-100,000 live births in the United States, according to the National Institute of Neurological Disorders and Stroke (NINDS).

His parents immediately set to work to advocate on behalf of their child, working hard to raise the $3.5 million that would be needed in order to fund life-saving gene therapy research for Sebi and other children with CLN8. They founded the Sebastian Velona Foundation (SVF) to help raise the necessary funds.

Over the past several years, the family has advocated for gene therapy for their son after discovering successful forms of gene therapy to battle CLN6, another form of the disease.

In 2018, Senator Scott Wilk, R-Santa Clarita, sponsored a bill that designated the first weekend in June as Batten Disease Awareness Week. Wilk was made aware of the deadly disease and the need for more awareness after Chris Velona, Sebi’s father, traveled to Sacramento and sought out support for his son, as well as the thousands of other children and their families who have been affected by the disease.

Unfortunately, due to Food and Drug Administration (FDA) guidelines and other safety regulations, it has taken more than three years to reach the point where gene therapy research is able to take place. The SVF partnered with Columbus, Ohio-based Nationwide Children’s Hospital, which had placed gene therapy “on the map” according to Teri.

Nationwide’s Children’s Hospital’s gene therapy program was bought by another company, before eventually being acquired by Amicus Therapeutics approximately 18 months ago.

“Unfortunately for us… because of the regulations, and the changing of the companies and the acquisitions, we’re kind of confused as to where we’re at,” Teri said. “It’s really slowed us down.”

The gene therapy is now in the process of being transferred back to Nationwide Children’s Hospital in order to complete the process and bring the result to human trials as quickly as possible.

Although Nationwide Children’s Hospital is more than willing to perform the research, they simply do not have the budget available to fund the project. The funding for the final stretch of research instead falls to the Velona family, with a price of at least $500,000.

“We need to raise $500,000 and we need to do it yesterday,” Teri said. “We need to do this now and get the word out there, that there are so many with Batten disease that we could help with this gene therapy. As the pioneer, it’s going to get less expensive to bring this treatment to the masses.”

According to Teri, the gene therapy treatment can not only halt the progression of the disease, but also save Sebi’s life as well as the lives of others affected by it. Without treatment, it is highly likely that within a few years at most, his condition will progressively deteriorate until he is unable to speak, see, walk, or even eat, until he would eventually die.

Teri worries that all families can do is wait for funds and treatment, knowing that waiting will only worsen their child’s condition and quality of life.

“We don’t have the time to wait if he gets any worse… we don’t want to leave him in a state where it’s not a good quality of life,” she said.

According to his mother, as of early June, Sebi is barely able to see, his speech is muddled and often unrecognizable, his cognitive thinking has deteriorated, and his physical and motor skills have so declined that he is unable to write or walk unaided. He is deteriorating on a daily basis, she said.

“This is my son, he was fine, it just happened so fast,” Teri said. “Now we’re scrambling, kicking down any door, looking for anyone that will hear us, listen to us. We can’t just watch our son deteriorate and die. I’m not a good mom if I sit there and do nothing.”

The news about new funding and the delays in gene therapy comes just as Sebi lost one of his grandfathers to COVID-19 in April, a death that has been devastating for him, according to his mother.

“He’s very frustrated and sad. He keeps asking ‘When is the gene therapy?’ asking me ‘It was going to be soon, where is it?’” Teri said. “It’s my job to take care of him and fix him, and I can’t fix him. So it’s hard.”

Teri says that her 16-year-old son understands what is happening to him and why he can’t go to school or get a driver’s license like other teens his age, but he keeps a positive outlook through the difficulties he experiences every day, and even attempts to comfort her whenever the frustration becomes too much to handle.

“He has an amazing attitude — he wants to help people with his hugs,” she said. “If he saw me crying right now he would lose it, and be hugging me, and petting me and telling me, ‘Mom it’s going to be okay, I’m going to get gene therapy.’”

Although his body is failing him, it is Sebi’s good attitude about the situation that helps motivate his family, according to his mother.

“He is so positive in his outlook that he makes me a better mom. I’m not allowed to get down, or cry, or get frustrated, or kick and scream,” Teri said. “I’m mad this gene therapy is taking so long. But I’m so grateful that we have this opportunity to actually get a treatment

After receiving funding for gene therapy treatment, Teri and the SVF plan to continue helping other children with CLN8 around the world, and to help others with rare diseases.

“Everyone deserves a chance,” she said. “The disease can be stopped by one injection, replacing the good gene with the bad gene. It baffles me.”

In a literal race against time, the doctors at National Children’s Hospital and the Velona family remain dedicated to making sure that the gene therapy goes to trial before it is too late to save Sebastian and the other children like him.

“I’m not going to let my baby go that way, we need to fight, we need to raise money, it’s worth everything,” Teri said. “I know there are so many amazing charities out there, but you can actually save some children’s lives right now.”

To support gene therapy research for Sebi, or to learn more about the SVF, click here.

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