In many ways, Nicholas Dainiak is a typical 6-year-old boy. He loves movies, playing with his friends, and tee-ball. He’s a daredevil who enjoys roller coasters and hanging upside down on his jungle gym.

But, in other ways, the Bedford boy is different from many other children. He can’t read or write. He clings to the staircase railing at home. He takes medicine to control epileptic seizures.

Nicholas suffers from Batten disease – a brutal and debilitating disease that attacks all functions of the body. There is no cure. The progressive, neuro-degenerative disorder has limited his mobility, rendered him legally blind, slowed down his developmental progress and caused him to suffer many seizures.

But it’s also spurred his parents, Heather and Chris, into action. They are determined to help find a cure for their son and other victims of the disease.

The mission of their organization, Our Promise to Nicholas Foundation, is to raise money to fund research, promote awareness and provide education. It will also support families caring for children and young adults afflicted with the disease.

The Dainiaks hope to raise $2.5 million for the second phase of a human 2009gene therapy trial at Cornell University to treat five children suffering from the disease.

Because Nicholas is high-functioning, he’s a good candidate for the trial. But even if he’s not included, his parents want the study to go forward.

“The study is ready. It just needs money,” said Heather. “Time is ticking for these kids.”

In their son’s case, it’s a race against time.

Nicholas has the late infantile form of the disease, which begins between the ages of 2 and 4, progresses rapidly, and typically ends in death between the ages of 8 and 12.

That gives him a life expectancy of only about five more years. His parents try to make every day with him a good day.

The foundation was officially started only four months ago but has already pulled in $70,000 in small donations.

“The hope is that (by) continuing to do fundraising, by continuing to network and get the information out there, there may be people who are interested in supporting this type of research – not only for Nicholas, but to benefit other children,” said Chris.

Some of the financial support has come through fundraisers initiated by Bedford area residents. A woman who works with Chris decided to organize a golf tournament. The Bedford Moms Group held an Easter egg hunt fundraiser. A movie night is planned.

And on Friday, Aug. 7, a fundraiser will take place at Bounce U, an indoor play facility in Bedford. It’s a place that Nicholas loves – he has enjoyed birthday parties there – and the owners are donating all of their proceeds from that night to the foundation.

“The community has just really opened their arms and hearts to our family,” said Heather.

“There’s good in people’s hearts, and I think when they hear about Nicholas it touches them,” added Chris who relocated his family to Bedford from Connecticut in 2006. “They want to help, they want to do things.”

Nicholas appeared healthy when born and met all the developmental milestones as an infant. But eventually there were signs that something was wrong. At 2, he did not pronounce words correctly. Shortly after turning 4, he began suffering seizures. He started to have outbursts and displayed other behavioral problems. He began to watch television up close and put books close to his face.

Last September, an eye exam, an MRI and a skin biopsy confirmed that he had Batten disease.

His parents were devastated by the diagnosis but they immediately decided on three courses of action: to find a cure for Nicholas, to treat him as best as they could, and to have him to enjoy as much of life as possible.

“He means the world to us, of course,” said Heather. “He’s a funny, friendly boy. He wants everyone to be happy and have a good time around him.”

Nicholas undergoes physical, occupational and speech therapy sessions every week. A nurse works with him in school. He will be on an individualized education plan, known as an IEP, when he enters first grade at Riddle Brook Elementary School at the end of the month.

At home, Nicholas sits close to a wide-screen TV. The backyard is a wide, open space where he can run freely and won’t hurt himself if he falls. Red safety cones in the driveway keep him from riding his Big Wheel too close to the street. He requires constant care.

“Maybe the way we’re treating him has bought him time,” said Chris, whose son has been happier since he was diagnosed. “Clearly, time is of the essence because the sooner he can get a definitive treatment of the disease, the sooner that disease progression stops. So, if the disease progression stops, then you hope it can be reversed and that might be years off. If you can reverse it, that would be great. We’d settle for stopping the progression.”

The foundation, a non-profit organization, is run out of the Dainiaks’ Nashua Road home. Chris serves as the president. Some of the board directors include physicians and a financial analyst. A lawyer has been invited to participate.

“We’ve really developed an organization,” said Chris, who along with his wife has promised their son to find a cure. “We’ve been lucky to have a lot of good, smart, intelligent people who’ve been helping us. (They’re) very energetic.”

To raise money, the organization has set up coin collection boxes, and sold wristbands and candy bars. A Facebook page set up for the cause solicits donations and has so far drawn 962 members.

“There isn’t a day that goes by that we’re not fundraising,” said Heather.

What is Batten disease?
According to the National Institute of Neurological Disorders and Stroke at the National Institutes of Health, Batten disease is a fatal inherited disorder of the nervous system that begins in childhood.

The disease is the most common form of a group of disorders known as neuronal ceroid lipofuscinoses or NCL. It primarily strikes infants, toddlers and young students but it may affect people of any age and it begins unexpectedly. Early signs can be subtle and include personality changes, clumsiness, stumbling and slow learning.

Symptoms are linked to a buildup of substances, known as lipopigments, in the victim’s body tissue. Lipopigments build up in the cells of the brain and eye, and in skin, muscle and other tissues, according to the Batten Disease Support and Research Association, based in Reynoldsburg, Ohio.

The disease causes death of neurons – specific cells in the eye’s retina, brain and central nervous system. The reason for neuron death, however, is not known.

Batten disease may first be suspected in a child during an eye exam because a common early sign is vision loss. Often, the eye specialist will refer the patient to a neurologist.

Some of the tests used to diagnose Batten include electrical studies of the eyes, skin and tissue sampling, genetic/DNA testing, recording electrical currents in the brain, and scanning the brain for changes in its appearance.

Over time, victims suffer worsening seizures, mental impairment, and gradual loss of motor skills and sight. They eventually become blind, demented and bedridden, and the disease is often fatal by the victim’s late teens or 20s.

The disease occurs in an estimated two to four of every 100,000 births in the United States, according to BDSRA.

The organization lists four main types of NCL: infantile NCL, which begins between six months and 2 years of age and progresses rapidly; late infantile NCL, which starts between the ages of 2 and 4; juvenile NCL, which begins between the ages of 5 and 8; and adult NCL, which typically starts before the age of 40.

These types share similar symptoms but become apparent at different ages and progress at different rates.

According to the National Institute of Health, there are currently no specific treatments that can halt or reverse the symptoms of Batten disease. However, seizures can sometimes be controlled or reduced with drugs, other medical problems can be treated appropriately, and physical and occupational therapy may help patients retain functioning as long as possible.

Scientists are pursuing research in hopes of finding an effective treatment and cure. But because Batten is a rare disease, funding is limited and advancement has been slow.