GRAND RAPIDS, Mich. (WOOD) — Dan and Jenna Vainner want you to know their son Dawsey.

“The kid’s just joyful,” explained Dan. “He’s just a box of joy.”

The Vainners decided to share that joy to help raise community awareness about rare diseases and the children affected by them.

On Saturday, the Vainners will join other impacted families at the fourth annual Rare Disease Day Gathering, hosted by Corewell Health and the Rare Disease Network at Calvin College’s Prince Conference Center.

“If we can help anybody else know, or get to know, someone with a rare disorder … it can really help parents,” said Dan. “There’s so much more to these kids than (their disability).”

Dawsey, 3, adores being outside, reading board books, playing with toy cars, and cuddling with the people he loves.


“Dawsey’s just awesome. He’s very energetic and very interactive,” said Dan. “He’s just so fun and full of joy… He might be non-verbal, but he gets his point across.”

He’s also a very hard worker, an invaluable trait as he works to master new skills.  

Dawsey was six months old when the Vainners learned he had severe hypotonia (low muscle tone).

“He couldn’t hold his head up,” explained Jenna. “He couldn’t even move his arms against gravity.”

The Vainners knew early in the pregnancy that something may be wrong; ultrasounds had detected some growth abnormalities.

But tests came back normal.

“It was just kind of a waiting game at that point,” recalled Jenna. “Waiting for him to be born. See what he looks like. See what else might be going on that you can’t see en utero.”

Dawsey was eighteen months old when advanced genetic testing through Helen DeVos Children’s Hospital gave his condition a name: Au-Kline Syndrome.


“Au-Kline disease is a rare genetic condition, a rare syndrome,” explained Dr. Caleb Bupp, division chief of Medical Genetics and Genomics at Corewell Health.

“The main features of it are developmental delays. Slow to meet your milestones, lower muscle tone.”

Au-Kline is caused by a change in a particular gene and is named after the two doctors who discovered it in 2015.

“With rare disease, prognosis is hard,” explained Dr. Bupp. “There doesn’t look like there’s anything life-limiting with this condition, but there is more to learn as the generation of folks who have this diagnosis age because we’ve only known this condition existed for six or seven years. So, it’s still very infantile in terms of our understanding of what this looks like over the arc of someone’s life.”

Jenna was just relieved to know.  

“It was huge for us to get an answer,” said Jenna. “It was kind of a turning point for me.”

Dawsey’s diagnosis also introduced the Vainners to a new community: parents of children with Au-Kline Syndrome.

“We’ve found a lot of value in the Facebook group because these are people that are going through it every day, and it’s mostly moms and dads posting things and sharing things,” said Dan.

Doctor Bupp notes that making those connections is critical because navigating a rare disease alone can be very isolating.

“When patients and families get to the place where they’re willing to share their story, it provides that sort of beacon of light and that hope for other families that, ‘You can get through this. You can advocate. You can participate in research. This isn’t the end.'”

Bupp and the team at Helen DeVos Children’s Hospital help solve medical mysteries for families across West Michigan, the state and the nation.

Their work ultimately benefits everyone because it leads to a greater understanding of medical genetics.

“Dan and Jenna have been incredibly gracious to participate in research about Au-Kline Syndrome… taking a diagnosis and saying, ‘How can we pay it forward, how can we contribute to a greater understanding of this syndrome?’


According to the National Institutes of Health, it’s estimated there are more than 10,000 rare diseases that affect 30 million Americans, or approximately one in 10. In the United States, federal health agencies define rare diseases as conditions that affect fewer than 200,000 people.

“Patients in the US reported on average that it takes about 7.6 years to get a diagnosis, given the complexity of rare diseases,” wrote an NIH spokesperson in an email to News 8.

“There’s a lack of awareness of symptoms and signs of rare diseases by many physicians, so they can be hard to identify…. Patients reported visiting eight physicians and receiving two or three missed diagnoses prior to being diagnosed.”

Rare Disease Day is Tuesday, February 28 and its goal is to raise awareness among policymakers and the public about rare diseases and how they affect lives.

The Rare Disease Network’s Rare Disease Day Gathering takes place Saturday, February 25, 2023, at the Prince Conference Center on Calvin University’s campus.

Corewell Health describes it as a free event “that aims to unite patients, caregivers and families, medical professionals, researchers, advocates, and students around the common goals of sharing knowledge and insights about rare diseases and being rare and encouraging and supporting one another.”  

The event was open to the public but required pre-registration, which is now closed.