PITTSFIELD - Elijah McBurney often wears a maroon colored T-shirt with a white graphic of a strand of DNA on it, and the phrase, "Hug me, I'm rare. NBIA/BPAN." The recently turned 20-year-old is, indeed, a fan of hugs, as well as smiles and handshakes - his primary and preferred forms of communication - along with a small vocabulary of words. He is also, indeed, a rare person. Though he's had various symptoms of other diseases, like those known as pervasive developmental disorders, which limit a person's range of motion, thinking, speaking and behaviors, he was just diagnosed in April with an NBIA, or Neurodegeneration with Brain Iron Accumulation disorder known as BPAN, or Beta-propeller Protein-Associated Neurodegeneration. That's what the acronyms on Elijah's T-shirt stand for, and it's estimated that there are only a known 100 people living with this classified NBIA disorder. But whatever the acronyms and diagnoses Elijah has faced or will be treated for, his loved ones and advocates are working to make sure he is first and foremost treated as a student, a friend and a son. As with most families who have a member living with a disability or life-altering illness or injury - be it a brain injury or cancer - there's an inherent need to understand the cause and effect of it, then often to raise awareness about it and, if there's no treatment, there's a need to research for a cure. All that goes without saying for the parents of Elijah, Donna McBurney and Glenn McBurney, who are divorced, but still share guardianship and love for their youngest son. "Our top priority is to make time for him," Donna said. "Then you do what you need to do to figure out the rest," Glenn said. Doctors, they say, can teach them about the genetic mutation that affects Elijah and the medical studies and insurance programs he may be eligible for, but since there's no common cure, there's no standard course of treatment. So over the years, the McBurneys have put their skills and energy together to reach out and find the best support and options for Elijah to help him live as long and as healthfully as he can. The parents don't see themselves as babysitters for their son. Instead, they engage with him more like coaches, analyzing the young man's movements and behaviors, identifying his strengths and developing strategies to improve areas of weakness. Donna uses her experience as a certified nursing assistant to practice care and keep track of changes and behaviors in Elijah's life, while Glenn, who is the manager of the Pittsfield fitness center, Berkshire Nautilus, works to train his son to keep fit and motivated. One of the other key people who works with Elijah is Debbie Laframboise, a paraprofessional who has worked with Elijah while he's been attending Pittsfield High School. She stays in constant contact with Donna, who brings her son to school every day and with whom Elijah primarily lives. "We're in constant contact. I tell her everything and let her know what's going on with him," Laframboise said, whether it's about a new math game for Elijah's favorite learning tool, his iPad, or a change in his posture or facial expressions. Some effects of BPAN include a lowered immune system and buildups of iron and other toxins in his system that his body can't easily process. It also includes weakened muscle tone and limited flexibility. So Elijah's developed a healthy lifestyle, which includes carefully made meals with little processed foods, carbs and sugars. "He eats a lot of brown rice, sweet potatoes, vegetables and green tea. But he does love his pizza, so I let him have it now and then," Donna said. Caused by a genetic mutation on the X chromosome, BPAN mostly affects girls. Boys who have it tend not to live past childhood. But in Elijah's case, the mutation is considered a mosaic, meaning he has a mixture of healthy and mutated cells, which may explain why he's older and has more range of function than other people with BPAN and other NBIAs. To prevent him from regressing, his parents regularly work out with him. Elijah, who also helps clean at Berkshire Nautilus through his high school internship program, also exercises there. He uses the treadmill and weight machines both independently and with a spotter. He is also beginning to do massage therapy and may soon start yoga. The lifestyle change has led to some healthy, inexpensive results like more muscle tone in Elijah's arms and an improved range of independent movement. As his teacher, Laframboise works to support Elijah's mind. She's taught him to say "please" and "thank you," and to introduce himself by offering a handshake and saying his name, which is also often followed by a hug. The two of them can often go for long stretches of time, moving from subject to subject, using their own language of speaking and pointing, and smiling at each other. But teaching him is not without challenges. "He does get distracted," Laframboise said, so they tend to work at a desk in the back of his classroom, where there's less noise. Despite not being able to carry on a verbal conversation, Elijah is hugely social. He loves fire trucks and is a frequent visitor to the neighboring Pittsfield Fire Department headquarters. Most recently, he joined them at the city's Halloween Parade, riding in the truck wearing a full fireman's outfit. Elijah's held a fundraiser for NBIA/BPAN research, a sort of hugging booth, putting his specialty to work. He watches movies with his classmates and loves to sing and watch animation. He indicates his favorite clothes and hats he likes to wear. The young man is also big on safety and responsibility and keeping everyone to a routine. Elijah cleans up his school materials and room, and he knows how to take care of his own dishes after dinner. "If you're getting ready to leave the house, he's the first by your side to help you put on your coat and shoes," said his father, Glenn. "And when you're getting into the car, he's the first to point out your seat belt," Donna said. "You give him your support, but at the same time, he's your rock," Laframboise said. It's these strong relationships and habits that will help them all navigate whatever is in store in Elijah's future. Already, he and his family have connected with Dr. Susan J. Hayflick, a Portland, Ore.-based geneticist who specializes in research and treatment of neurodegeneration with brain iron accumulation, including BPAN. They've also begun working with another specialist at Massachusetts General Hospital, who is running a series of intensive genetic tests, the kind that involve blood and tissue samples and a spinal tap. But Donna said that as a parent, "I'm not looking to change who he is. I just want to save his life. He is who he is, and I want him to make gains on his own terms." Laframboise agreed. "As a teacher, I have learned so much from him. You will be a better person because of these children as you accept them for who they are." Glenn said, "As he's aged, we love and appreciate the blessing he is, although we're prejudiced because we think he's the most loving creature in the world. But you love him because he's your son. So what if he can't do the things others can? We do other experiences that he can do." The father also observed another quality about Elijah. "He truly has this sense of innocence that other 20-year-olds wouldn't have. He doesn't know hate, and he doesn't know prejudice. He'll shake hands or hug just about anyone, which, on the flip side, not everyone might appreciate." Donna said they'll continue to work to educate others about the disorder and work with researchers and doctors so that they can have a better understanding of how BPAN affects not only Elijah, but others as well. "As parents," said Glenn, "we'll never stop loving him. He's our man, he's our son, and we love him all the same." Learn more about BPAN and how to donate to research at nbiadisorders.org/about-nbia/bpan Follow Elijah's journey at facebook.com/elijahmcburneyBPAN and facebook.com/curebpan