Angela Guralski had no idea during her full-term pregnancy more than a decade ago of the challenges that lay ahead.
Shayla Guralski with her family, Shawn, brother Mason and Angela, Edgar, Wisconsin
The strength of her resolve, and the breadth of her medical team has made all the difference in her daughter's life.
Rare metabolic disorder
Shayla was born March 21, 2001, in the Wausau hospital with a rare metabolic disorder. She was weak, had difficulty breathing and failure to thrive.
After two days, she was taken to the neonatal intensive care unit at Ministry Saint Joseph's Children's Hospital in Marshfield.
The 5-pound, 11-ounce baby underwent numerous tests in the next two weeks. "We saw more specialists than I ever imagined," Guralski said.
The tests were inconclusive, and when Shayla was stable, they went home.
Shayla was hungry all the time. "She wanted to feed every two hours, and it went right through her," Guralski said. One night, she didn't awake for feeding.
When her mother couldn't arouse her, she called 9-1-1, and Shayla was airlifted back to Marshfield.
She was malnourished and dehydrated and had a blood sugar of 19. She had diarrhea, blood in her stool and necrotizing enterocolitis, an intestinal infection that can be fatal.
"Shayla stopped breathing. She was having seizures," said Edward Fernandez, M.D., Marshfield Clinic pediatric intensivist.
Shayla spent much of her first two years in the pediatric intensive care unit in Marshfield.
Multiple issues
She had multiple issues. "We just couldn't figure out what was wrong."
Shayla spent much of her first two years in the pediatric intensive care unit in Marshfield.
She spent the next seven months in the pediatric intensive care unit at Saint Joseph's. "Only one other child was there longer," said Guralski, who drove to Marshfield every day from Athens.After four more months of testing, a muscle biopsy confirmed Shayla had a mitochrondrial disorder. "It's almost a diagnosis of exclusion," Dr. Fernandez said.
Mitochondria are the powerhouse of each cell.
A genetic defect of the mitochondrial energy supply is suspected when patients have an unexplained association of symptoms involving seemingly unrelated organs and tissues, said her pediatrician, Suzanne Wright, M.D.
Symptoms often develop early and progress rapidly. "It can take a lot of time, multiple specialists and complex testing to diagnose these rare disorders," Dr. Wright said. "Unfortunately, Shayla's disorder is difficult to treat and cannot be cured. Children typically do not survive as long as Shayla has."
Shayla was 23 months old before she had more days out of the hospital than in it. She was named a Children's Miracle Network Child in 2003.
After returning home, Shayla needed oxygen for most of her first two years. Her parents, Shawn and Angela, began the nerve-racking task of monitoring her oxygen.
She was on 15 different medications.
Most babies with mitochondrial disorders have developmental delays, including Shayla. At age 9½, her development was on par with a 10-12 month old. She doesn't walk or talk and is in diapers.
The little things
"When she rolled over, we were so excited," her mother said. "All the little things are such a big deal."
"Even though she doesn't talk, she understands more than we think," Guralski said.
Mitochondrial disease can affect every cell in the body. Problems are likely to develop first in the heart or eyes, and Marshfield Clinic heart and ophthalmology specialists monitor Shayla.
Shayla will be on medications lifelong for deficiencies in growth hormones, thyroid and adrenal gland and because her body is unable to absorb vitamins and nutrients.
Ivan Zador, M.D., a pediatric endocrinologist, and nurses specially trained in nutrition and metabolism monitor her and adjust medications as needed.
She was diagnosed with type 1 diabetes in 2007. "It's a little more complicated because she can't say, 'I'm jittery, I'm hungry,' when her blood sugar is low," said Dr. Zador.
Other pediatric specialists who have been involved in Shayla's care are in neurology, surgery, gastroenterology, cardiology, medical genetics, ear, nose and throat, speech and physical therapy, orthopedics and physical medicine.
"We're the only place that has these multiple specialties in north central Wisconsin," Dr. Zador noted.
Guralski appreciates how attentive and patient Marshfield Clinic physicians and staff are with Shayla.
"The doctors are so good. They say, 'oh Shayla, you have such a good mama,' and I say, 'Shayla you have such good doctors so I can be a good mom,'" Guralski said. "They make me feel like Shayla is important. They treat her like a person."
Dr. Wright, her pediatrician since 2003, "values my opinion on how I feel and what I see with Shayla."
Shayla's mother makes all the difference, Dr. Wright said. "Her approach is, 'this is my daughter, she's complicated, and I love her.' She balances a hopeful, cheerful, and resilient attitude with a realistic acceptance of her daughter's difficulties. Shayla's mom celebrates her strengths, advocates for her child's needs and accepts that there are some things medicine can't fix."
Shayla laughs and claps when pleased or excited. "She's such a happy, content child. She eats the same things we do," said Guralski, who purees her food.
Her older brother, Mason, is good natured and accepting, his mom said. "He's her favorite toy. She enjoys watching and playing with Mason almost more than anything else."
"She is a miracle," Guralski said. "I wouldn't change anything because she has helped us realize what's important. We don't buy brand new vehicles and we didn't build the house we used to dream of building, but those things don't matter. We have reliable vehicles and more than enough room in our home. I used to work 60+ hours a week as an accountant and missed a lot of those 'first' things that kids do. Now I get to stay home with my kids. I don't have to stay home, I get to stay home. Mason loves it that I'm home every day when he gets off the bus."
