Every year on rare disease day, every front porch in a small Minnesota town is illuminated by purple lights…and every light is for Everleigh.
Everleigh, or Evie, was born early by caesarean section—36 weeks and six days. As far as Brittany and Chris were concerned, it was relatively normal and completely successful. But two weeks later, everything changed.
“Evie was not eating well,” Brittany said. “She was vomiting and could not maintain her birthweight. Eventually, she became very lethargic. Our pediatrician did not have an answer and neither did our hometown hospital.”
“It was pretty traumatic.”
Endless tests and no new information resulted in a trip to Rochester and appointments at Mayo Clinic. It was the start of a multi-year journey, where nurses and doctors would save her life…on multiple occasions.
“Evie wouldn’t be here today without them,” said Brittany.
Two years after her initial visit to Mayo Clinic, Evie received an official diagnosis: SETD5 Syndrome (also known as SETD5 Gene Syndrome). SETD5 was only recently recognized as a genetic disorder and is extremely rare—approximately 200 total cases worldwide. There are no medical journals or long-term studies on SETD5. By mathematical standards…it is a one-in-40 million condition.
But the work done by Mayo Clinic has changed her outlook.
“We were advocating for our daughter, but we didn’t know how to best speak up,” Brittany said. “Our knowledge and confidence changed how we communicate with her care team. We are better parents because of our experience at Mayo.”
In addition to the SETD5 diagnosis, Evie is also dealing with epilepsy and another rare genetic disorder: glycogen storage disease. It affects how her body uses and stores sugar, which presents additional concerns. Evie wears a Dexcom for continuous glucose monitoring, an important step after she had an allergic reaction with glucagon—a common and natural treatment for patients with GSD that raises blood sugar.
“Every situation feels like life or death,” said Brittany. “We can go one week without any medical intervention, or we have one every day. We have seen her in the trenches, and she has come out stronger every time. But it is a struggle.”
Five years ago, the family arrived in Rochester for the first time. Brittany and Chris did not want to leave Evie’s side, but they needed sleep and normalcy. While they had experience with another Ronald McDonald House, the House in Rochester was different.
“I was overcome with emotion,” Brittany said. “We had a bed outside the hospital, and a space for rest, relaxation, and recuperation. We could be our best for Evie.”
“For the first time in a long time…we felt at peace.”
And Evie shared their feelings. Fear of appointments became excitement for the House.
“The House is a reason she wants to be in Rochester, while everything else is a reason she doesn’t want to be here,” said Brittany.
They would open the activity calendar on the app—Evie loves music therapy and pet therapy. And she is always ready for a movie night or a magic show. Brittany is excited for House Dinners, where outside volunteer and donor groups make a meal for the children and families. Their support allows her to focus completely on her daughter.
“It makes a world of difference,” Brittany said.
House amenities and programs aside, Brittany and Chris were thankful for the House’s proximity to the hospital. The fear of receiving a phone call in the middle of the night was replaced by peace of mind, knowing that they could be by Evie’s side in a heartbeat.
Brittany said she and her daughter felt loved and cared for by so many volunteers at the House. They know Evie by name, which “means a lot to a mom.” Brittany shared that they have started volunteering in their hometown because of their experience and they would encourage others to volunteer as well.
The support Brittany and Evie received made it possible for Chris to occasionally stay home with their son, Maverick. While Brittany said it is not ideal, “it was important to give him a sense of normalcy.”
Brittany said Evie’s life-saving care would not be possible without the people who support the House financially. The situation is stressful, but the concern about finding a place to stay was lifted off their shoulders.
“It means everything,” said Brittany. “It enabled us to have the best care in the country. We wouldn’t be here without the donations to the House.”
Evie is on a lifelong journey, but she has more good days than bad. The family continues to seek answers, traveling to the Cleveland Clinic for a glycogen storage disease program and having follow-up appointments at Mayo Clinic.
“We are learning together,” Brittany said. “We have turned the corner from where she was in her first year of life. And we will cherish and take advantage of every day.”