Family with Ludington ties to hold fundraiser for daughter diagnosed with rare disorder. 

Family with Ludington ties to hold fundraiser for daughter diagnosed with rare disorder. 

By Kate Krieger, MCP Staff Writer

ANN ARBOR – Any parent would say when they have a baby, all they hope for is that the baby is born healthy and happy. When a child is born with noticeable delays, it can be a parent’s nightmare, but when those delays start to show themselves months to even a few years later, it can be even more frightening for parents.

Former Ludington resident Kaci (Baars) Kegler and her husband, Brian, have faced this exact situation, but what they weren’t prepared for was what they found out after they started noticing delays in their young daughter, Noelle. 

After many doctor visits, tests and questions asked, the Keglers were sent for genetic testing to see if these tests could indicate what was going on with Noelle. At first, they thought she was possibly on the autism spectrum, but as more and more tests were completed, along with these genetic tests, their world closed in around them as they faced the news about Noelle with more confusion and questions than they ever had before.

“Elle’s diagnosis completely shattered our world,” Kegler said. “When we left the appointment, Brian and I sat on a bench outside of University of Michigan Mott Children’s Hospital in silence, disoriented by the fact that the world around us was still moving. Prior to that day, we knew Elle was developmentally delayed and that she had seizures, but we envisioned a future where those things were managed and we had hope that with proper treatment, she would live a long, healthy, happy life.”

Noelle had been diagnosed with a rare genetic disorder called beta-propeller protein-associated neurodegeneration (BPAN), which belongs to a family of disorders, called NBIA – neurodegeneration with brain iron accumulation. The disorder was first described in 1922 and named Hallervorden Spatz disease for the German scientists who discovered it. As medical technology advanced, specific genes associated with Hallervorden Spatz were discovered. In 2001, the PKAN gene was identified, which prompted the renaming of the disease family to NBIA. Another gene, PLAN, was discovered in 2006, then MPAN in 2011, and BPAN in 2012. The family of genetic mutations are all characterized by abnormal accumulation of iron deep within the base of the brain, where movement is regulated. Despite NBIA being discovered as early as the 1920s, the exact relationship between iron accumulation and symptoms of NBIA is not fully understood. Further, each type of NBIA affects a different gene and affected individuals have different mutations of that gene.

With all this information coming at the Keglers all at once, it was very overwhelming and also very confusing.

“BPAN-specific research began at Oregon Health Sciences University in 2012, when the gene was discovered,” Kaci said. “Elle was born in 2011. It always gets me that she’s a year older than the disorder’s discovery. At first, we didn’t know what to feel, say, do, think, etc. In time, with the love and support of everyone around us, we realized the way to move forward was to celebrate every accomplishment and day we have with her. Like any family, we have good days and bad ones. But instead of pushing her to learn how to run, we celebrated that she could stand and walk. Instead of hammering speech articulation, we celebrate that she loves to sing. We still work on those things, but that newfound perspective let us breathe again. It was and continues to be a blessing. BPAN is progressive, meaning that as Elle ages, her disease will worsen. She will ultimately lose mobility, muscle, and brain function. If any BPAN parent thinks to the future, it’s paralyzing. So, we do our best to live in the moment and we’ve dedicated our time and resources to fighting for a cure.”

When Noelle was first diagnosed, there were only 100 other children diagnosed worldwide. As research becomes more funded, many more cases of BPAN are being diagnosed. Kaci said Noelle’s geneticist handed them a few paragraphs on BPAN, pointed us in the direction of NBIAcure.org, and mentioned a Facebook group of BPAN families and that was about all that was known about BPAN at the time.

Kaci also said a lot of the children being diagnosed were previously misdiagnosed with something else. Because BPAN and the other disorders that fall under the NBIA group are still quite rare, research isn’t being funded by large grants or organizations and grass root fundraising has primarily been the main sources of research financing.

“Because BPAN is hyper-rare, it’s not an attractive investment for pharmaceutical companies and it’s not on the radar of most doctors,” Kaci said. “The research being conducted has been spurred by grassroots presentations, backed by hard-earned dollars of small, BPAN-related nonprofit organizations. I currently serve as an advisor for Don’t Forget Morgan, a Michigan nonprofit started last year by fellow BPAN mom and vice president for the Detroit Lions, Kelly Kozole. She and another BPAN mom from New Jersey, Christina Mascarenhas-Ftikas, worked with their medical board to develop presentation decks that they present to hospitals and doctors. When I say grassroots, I’m not kidding. That said, it’s incredible what a group of moms fighting for their kids can accomplish. In one short year, Don’t Forget Morgan has funded research at University of Michigan, Ohio State, and Sanford Research. Other BPAN-related nonprofits also exist. BPAN Warriors, a Florida-based nonprofit founded by fellow BPAN mom, Sarah Chisolm; NBIA Disorders Association, which supports research for the entire family of NBIA disorders; as well as several small family-centric foundations.”

Along with Noelle, the Keglers also have two sons, Nolan, 10, and Theo, 3. Noelle’s diagnosis became even more real after Theo was born. Kaci and Brian watched him develop and start to surpass Noelle in many ways, even though he was six years younger.

“Theo is 3 1/2 and Elle is 9,” Kaci said. “He has surpassed her both cognitively and physically. I think he was one year old when he started doing things that she cannot. Those were simple tasks that you or I don’t even think about. For example, how to physically sit on a chair or how to transition an item from the left hand to the right. Motor planning is exceedingly difficult for her. When she wanted to sit down, she would walk to one side of the chair, look at it, then move to the other side, pick up her leg, set it down, go back to the other side, etc. As Theo has gotten older, of course, the skills have become more complex: speaking, multi-step directions, potty training, and so on. One of the most frustrating components of a degenerative disease is the loss of skills. So, sometimes Elle masters something and then it falls out of her repertoire. For example, when she was three, she could kick a ball like a champ. Then, the muscle memory disappeared and it took us two years to reteach the skill. Fortunately, she’s a master at giggles, hugs, and kisses.”

Since Noelle was diagnosed, the Keglers, who both work for the University of Michigan, have held fundraising events to raise more money for research. With the help of Kelly Kozole and the Detroit Lions, the Don’t Forget Morgan nonprofit, the National Football League and Fanatics Sportswear, this year’s fundraiser will consist of an online auction put on by the NFL. The auction starts on Feb. 25 and anyone can go online to bid on a large variety of items including, 2022 Super Bowl tickets in Los Angeles, a Kenny Chesney signed guitar, various signed sports and entertainment items, and more.

“Don’t Forget Morgan has a really cool Rare Disease Day event coming up,” Kaci said. “We’ve partnered with the NFL to host a raffle and auction at nfl.com/auction. There are amazing items, including tickets to next year’s Super Bowl, a Kenny Chesney signed guitar and two tickets to a concert, a Ludington Getaway Package, a Juwan Howard signed Michigan basketball, a Tom Izzo signed MSU basketball, a personalized Brian Kelly signed Notre Dame football, a University of North Carolina Roy Williams and 20-21 team signed Basketball, a University of Alabama package, a Grand Valley State University game day package, a Ferris State University basket and the list goes on. I’m from Ludington and I want to give a huge thanks to Cartier Mansion Bed and Breakfast, Todd and Brad Reed Photography, Lincoln Hills Golf Club, Jamesport Brewery, Blu Moon Bistro, Ludington Harbor Tours, and House of Flavors Restaurant for their donations to the Ludington package. We are so appreciative.”

Though there aren’t thousands of children diagnosed with BPAN, Kaci said this has brought the BPAN community even closer together and everyone has become cheerleaders for each other and help to educate those who have never heard of the disorder or who may have a child who might have BPAN.

“I’ve never met another child with BPAN in person. Based on what I see on Facebook, Noelle does seem to be on the healthier end of the spectrum. Some BPAN children never walk or speak. Since BPAN is an x-chromosome disorder, very few boys exist with the disease. Those who do tend to be very severely affected. Not enough is understood about the disease to know why some children are more severe than others, but early therapy does help. Elle started receiving private speech therapy and was enrolled in Early On Michigan, a program that provides therapy services to infants and toddlers with developmental delay, at age 2.”

The Keglers have seen an outpouring of support from friends and family in the Ludington area because Kaci grew up there and her parents, Garry and Julene Baars still reside there. Kaci said even though Ludington is a small community, there have been so many people who have reached out to them or who have talked about Elle to others to help spread awareness and educate others about BPAN.

“Every year, we move the needle on understanding BPAN a little bit more, which makes a world of difference to the greater BPAN community,” Kaci said. “Today, there are far more resources for families, doctors, and therapists than when we were diagnosed just five years ago. So many people have shared Noelle’s story, purchased t-shirts, donated to our fundraisers, and asked us how she’s doing. I can’t put into words how much that means to us. Ludington, in particular, will always be my gold standard for ‘community.’ I can’t say thank you enough to the many, many people who have supported us over the years.”

Kaci, along with all the other families affected by BPAN really stresses to other families to keep looking for answers and to never give up. Early interventions can be very beneficial, even if a proper diagnosis hasn’t taken place.

“We tell Elle’s story in hopes of finding effective treatment and a cure,” she said. “We also tell her story because we don’t want anyone to endure the madness, we experienced for her first several years of life. The number of individuals diagnosed with BPAN has grown significantly in the last five years as genetic testing has become more widely available and scientists now believe there are many undiagnosed individuals in the world. When Elle was born, she was completely healthy. As a toddler, she did not look ‘syndrome-y.’ Strangers did not realize she was developmentally delayed until she was out of her stroller or tried to speak and even then, they were sometimes unsure. If you know of a family struggling with developmental delays and seizure activity, please encourage them to see a geneticist and to inquire about whole exome sequencing. It is an expensive test if insurance won’t cover it but grants from foundations exist to help cover the cost. Early intervention is imperative and has a significant impact on quality of life.”

Anyone looking for more information about BPAN can visit nbiacare.org., bpanwarriors.org, dontforgetmorgan.org. or any of the other BPAN awareness sites. World Rare Disease Day is Feb. 28, 2021 and if anyone wants to become involved or donate to research in Noelle’s name, please visit the NFL online auction, benefiting the Don’t Forget Morgan nonprofit at nfl.com/auction to bid on items, starting Feb. 25. 

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