Our promise to Nicholas: A family's battle against Batten disease

Editor's Note: Nicholas Dainiak died May 9, 2014, on his 11th birthday.

What if you found out your five-year-old had a very serious disease for which there was no cure, and that suddenly, a shortened life expectancy cruelly lurked far too close on the horizon?

When faced with this inconceivable diagnosis for their son, Nicholas, Heather and Chris Dainiak gathered family and friends close and got to work. The result is a life well lived, regardless of its length, and extraordinary accomplishments all done through Our Promise to Nicholas, a foundation created by the Dainiaks to raise funds and create partnerships to promote awareness, provide education and develop translational research to battle the rare, but insidious, disease that has taken hold of their eldest son.

By all accounts, the Dainiaks’ experience through the birth and earliest childhood of Nicholas seems fairly typical. With a constant hunger and restlessness that made bedtime somewhat difficult, their son hit the anticipated infant and toddler milestones on target with the exception of his speech. His parents had him tested in an early childhood state program, which he had no difficulty in passing.

Soon thereafter, the family moved to Bedford and Nicholas settled into his new surroundings and child care center without issue. However, before long, Chris said Nicholas seemed to be experiencing vision problems. They brought him to one ophthalmologist who found nothing wrong. Another visit to a different doctor brought the opinion that their son might be nearsighted.

Within days after his fourth birthday, Nicholas experienced his first seizure. Not long thereafter, he had his second, which was longer and more intense. Medical tests ensued, more seizures and lots of different epilepsy medications—and varying side effects from weight gain to constipation.

“It made it difficult to determine if he had other things going on,” said his father, who, as a gastroenterologist, is perhaps even more aware of physical changes and potential symptoms than the average parent.

In spite of the challenges, Nicholas maintained an active schedule, participating in the Bedford Jaguars flag football program, swimming, gymnastics and more.

Throughout that year, however, there were changes in his behavior, with emotional outbursts, distancing himself from friends and other actions that caused his parents to become concerned. At first thinking it might be related to the recent birth of a younger brother, Nicholas would soon be diagnosed with ADHD and put on additional medication. His seizures continued with regular frequency in spite of medication, and his vision seemed to decline. Then, one night, Nicholas began to hallucinate.

“He told us he was seeing dragons and rainbows,” said Chris. “This was about a year after his seizures initially began.”

Their son was admitted to the hospital, and throughout that day and a subsequent one, many new and alarming details began to emerge. Vision testing revealed that Nicholas also had macular degeneration, and was now legally blind. Comparisons were made between earlier MRIs and CAT scan results, which led to the realization that there was significant atrophy to the brain throughout the past year.

“This was bizarre,” Chris said. “We looked at that and realized there is something serious going on.” The question was, what was happening to their son?

What they learned wasn’t good. Neuronal Ceroid Lipofuscinosis (NCL) was suspected and then confirmed through a skin and gene test. Those with the disease are missing a gene that is responsible for eliminating the build-up of intracellular waste in the brain and central nervous system. Over time, the cells begin to die and lead to debilitation of the brain and body’s function, causing children to experience seizures, dementia, immobility and eventually, death.

This rare disease has four main types of NCL, also known as Batten’s disease; three of which affect children and are fatal. Nicholas would eventually be diagnosed with Late Infantile NCL, which progresses quickly and generally results in death between the age of 8 and 12.

The Dainiaks asked Nicholas’ doctor, “What do we do?” They were told, “We don’t know. We’ve never seen a case like this.” Information was provided on potential support groups, but in reality, the medical community seemed to have no idea how to help.

“We rallied as a family,” said Chris. “Both sides of our family became very determined very quickly.”

The couple looked to people in their immediate family to go out and to connect with others to find out all that they could. The Dainiaks began scouring literature, finding anything that was out there. They looked for families that had been through this and learned that there were a couple of hundred kids possibly in the United States with Batten’s disease.

They also knew the clock was running. “Our son was 5 ½ years old when diagnosed,” said Chris. “There’s not a lot you can do, but yet everything that you have to do to live a full life in a couple of years.”

Almost immediately, they decided to form a foundation dedicated to their son, and their own promise to do everything they could to help Nicholas and others that would go through this, too.

“We want to know that whatever happens, we need to keep this moving forward. We have an obligation to keep this going.”

Nicholas was doing OK at this point, playing football, eating well, but the seizure medications just weren’t working. “There is always an issue with side effects,” his father said. “They were causing symptoms that were mimicking disease progression.”

With medical supervision and approval, his parents decided to discontinue the seizure meds and focus on Ativan only, which had very few side effects. They could dose him as needed, although it might be up to nine times a day and as his father noted, requires a high level of observation.

They focused on what might be out there for research or treatment for Batten’s disease, but there were only trials for the more common juvenile Batten disease.

The Dainiaks learned of one trial for late infantile Batten’s disease, which focused on fixing the gene defect present. The trial focused on cutting-edge therapy, taking the correct gene and replacing it in the vector in the form of a monkey virus, which would not cause much of an issue in the way of potential side effects.

“The hope is that it would transfer into regular cells, save those cells and help normalize them,” said Chris.

As with all trials, there was a specific criterion that must be met, in which a child couldn’t be too sick or too healthy. While Nicholas was in a state in which he met the criteria initially, six months later, there was concern his physical decline would disqualify him. Fortunately, he was able to proceed and became the first candidate for this procedure at Cornell University, which was done when Nicholas was seven.

“There were no alternatives at this point,” said Chris. “If you don’t do anything, he’ll die. We recognized that going in; there were no great alternatives. You realize how many families before you put time, money and effort into making this possible and that scientists created something that enabled this study.”

Surgery went well and Nicholas was just a little sick after the procedure. About 48 hours after the surgery, Nicholas said he was hungry and wanted pizza. Chris ran several blocks and found his son a big slice of New York-style pizza. Nicholas ate every bite. As part of the protocol, the family had to stay in New York City for two weeks and managed to see some of the local sights while there.

While Nicholas had a follow-up evaluation six months later as part of a trial, the results are not shared with parents. As Heather considered what had transpired during that time, she couldn’t help but be grateful that their son had an opportunity to be a part of the trial. “Even if it will only give us a few more months or weeks with him, it was worth it,” she said.

While Nicholas’ health continued to decline, the family’s dedication to raising money for their foundation for research and better therapies only increased. In the first year, they held 30 fundraisers with the assistance of many others, who eagerly joined in their mission.

“We had a lot of enthusiasm from family and friends who wanted to help,” said Chris.

From the very first Easter Egg hunt six years ago in Bedford, which has grown to more than 1,300 children participating to bowling fundraisers, walkathons, golf tournaments and so much more, including the annual Not So Scary Halloween Party, events and activities have touched hundreds and now, thousands of lives, through its efforts—and raised significant awareness of Batten’s disease and Nicholas as well.

Funding for research and treatment of any lesser-known disease is challenging. The usual sources, both federal and private, aren’t necessarily drawn to funding for diseases that don’t affect the masses to a greater degree. Pharmaceutical companies have no financial incentive for pursuing research for a rarer disease, let alone provide initial support or to develop trials that are hopeful to people affected.

The Dainiaks are doing what they can to meet that challenge. “We said, ‘let’s jump in and do it,’” Chris said. “This will only occur through that support system with fundraisers and raising awareness. The most important thing I need to do is to help bring an organized, unbiased look at what’s out there.”

To that end, their foundation hosted a conference in 2011 on Batten’s disease, bringing 30 scientists from around the world and other organizations in the United States together to see where they feel research is, where it needs to be and where the holes are, with a focus on where we need to be. Another conference is planned for late March at the National Institutes of Health in Maryland, to see where scientists now are three years later, what’s in the future and what is needed to get there. Scientists are being asked to present on topics related to their work and the foundation will be awarding grants to based on those presentations through peer review.

“What we can raise every year, along with assistance from supporting organizations will allow us to move forward,” said Chris. “We want to do this the right way. In reality, it’s not for Nicholas, but rather in keeping our promise to him. We want to be there for others and show there’s hope.”

While Nicholas has declined significantly, his parents say that he is still very much with him. He cannot walk, and can only move his arms by reflex.

“He can hear what you’re doing,” said his dad. “He is very much a part of our family.”

They know that the longer they are able to have Nicholas with them, the more possibilities exist for him and that he has functions that other children with Batten’s disease of his age do not.

According to his parents, Nicholas’ younger brother, William, at age seven, has grown up understanding that his brother is sick and as a result, he is very sensitive to the needs of those with disabilities.

“He understands that there is more outside of his own needs, and he has learned that some people need help,” said Chris. He also realizes the family does all of these “cool fundraisers, which are a lot of work, but that are great fun to attend.” And as for how the family gets through all that they have, Chris attributes it to his wife. “Heather is an amazing woman, and an incredibly amazing mom,” he said.

Having Nicholas has challenged their lives in ways that can’t be imagined, Chris said, yet they think about the hundreds and thousands of people they have met and the experiences that have been created through their fundraising and awareness efforts. “It’s a horrendously heartbreaking experience, but the things that are being accomplished because of Nicholas—you look at the power of one person and that is something that we hold onto.”

Learn more about Our Promise to Nicholas at ourpromisetonicholas.com

Pamme Boutselis is a N.H.-based writer, a content director at Southern New Hampshire University and a serial volunteer. Follow her at pammeboutselis.com or on Twitter @pammeb.