Before she became pregnant, Theresa Edelman, a little person from a St. Paul-Minneapolis suburb, consulted UW-Madison’s Dr. Richard Pauli about potential risks.
“Carrying a child puts such a restraint on the space our lungs have to breathe,” said Edelman, whose husband, Matt, and 2-year-old daughter, Madelyn, are also of short stature.
Lisa and Garrett Raubolt, who are of average height, saw Pauli after their 14-month-old daughter, Charlotte, was diagnosed with dwarfism a month after birth.
“We were pretty lost,” said Lisa Raubolt, of the Chicago area. “I had no idea what dwarfism really was.”
The Edelmans and the Raubolts are among about 150 families — many from other states — who come each year to Pauli’s clinic for bone dysplasia, or dwarfing disorders, at the Waisman Center.
The Edelmans are also among more than 200 people expected to gather Friday through Sunday at the Concourse Hotel in Downtown Madison for a regional conference of Little People of America. It’s the first such gathering in Madison in 10 years.
The conference will feature sessions with Pauli, a pediatric geneticist, and three other doctors, a genetic counselor and an audiologist from UW Health.
“Most dwarfs have some medical issues,” said April Brazier, of Madison, conference coordinator. “This is the first time we’ve had this number of physicians available of this magnitude.”
Attendees are traveling from Illinois, Indiana, Iowa, Nebraska, New Jersey, North Dakota, South Dakota and Wisconsin, Brazier said. About half are little people; 80 percent of people with dwarfism have parents and siblings who are of average height, she said.
Activities include a Badger-style tailgate party, karaoke, a banquet and a dance. “It’s nice to be with people who understand,” Brazier said.
A significant focus will be on the medical complications of dwarfism — a catchall term for more than 200 types of bone growth abnormalities, which are typically caused by single gene mutations. About 30,000 Americans are little people, ranging from 2 feet 8 inches to 4 feet 5 inches tall as adults, Brazier said.
“The bone grows at one rate but other tissues that are unaffected grow at other rates,” said Pauli, former chairman of the medical advisory board for Little People of America.
One complication of dwarfism that is rare but serious is sudden infant death, which can occur when a malformed skull constricts the brain stem and cuts off breathing, Pauli said. Surgery can repair the defect, found in about 2 to 3 percent of children with dwarfism, he said.
A more common risk is middle-ear disease, which can cause fluid buildup and hearing loss, Pauli said. To minimize problems, many children with dwarfism get tubes in their ears.
Some people of short stature have abnormal back curvature, which can be significant enough to cause paralysis. Supported sitting and extra “tummy time” during infancy can correct the problem, Pauli said.
A California company, Biomarin, is testing a drug that could increase bone growth in people with achondroplasia, the most common form of dwarfism.
The gene mutation for achondroplasia was discovered in 1994, leading many little people to worry that genetic testing would encourage abortions, Pauli said.
But “nothing of the sort happened,” he said.
Limited genetic testing is done, he said, mostly for a particular circumstance: if both parents have achondroplasia, there’s a 25 percent chance their child will get two copies of the mutation, a condition that is fatal just after birth.
The Edelmans, who have achondroplasia, faced that risk but didn’t want genetic testing. “It wouldn’t have changed our decision,” Theresa said.
The couple also had a 25 percent chance of having an average height child and a 50 percent chance of having a child with dwarfism who has a single gene mutation, as is the case with Madelyn.
“We would be a little nervous having an average height child because we don’t know what it’s like,” though they would welcome such a child, Theresa said.
Theresa’s main concern about pregnancy was whether her body could handle it. That turned out not to be a significant issue, she said.
Madelyn has had two sets of tubes in her ears and had her adenoids removed because of sleep apnea, Theresa said.
Theresa, 30, a doctoral student in genetics, and Matt, 37, an electrical engineer, said they’re trying not to pamper Madelyn so she’ll be confident and independent as they are.
Some of that is by necessity: The couple can’t carry her like average-height parents could.
“Now that she’s getting too big for us to carry, she’s expected to walk,” Theresa said.
A 1-in-10,000 chance
When Charlotte Raubolt was born, her forehead seemed a bit large and a nurse said her arms looked short, said Lisa, 31. But she and Garrett didn’t consider dwarfism until a doctor suggested it during a routine checkup a month later.
A geneticist confirmed the condition through a physical exam, MRI and blood test.
“It took our breath away,” said Garrett, 39. “You don’t know what to expect.”
Parents of average height have roughly a 1-in-10,000 chance of having a child with dwarfism, Pauli said. The condition generally results from a mutation that is spontaneous, not hereditary, he said.
Having one child with dwarfism makes it more likely such parents will have another, but that is still rare, Pauli said.
The Raubolts’ 4-year-old son, Aidan, is of average height. Charlotte has received forced air at night for sleep apnea but has no other medical problems, the Raubolts said.
Now that the Raubolts have become comfortable with their situation, they are considering adopting a child with dwarfism.
Lisa said she is inspired by “Little People, Big World,” a TLC reality show about a couple with dwarfism and their four children, one of short stature and three of average height.
“It makes me feel like Charlotte is going to be fine,” Lisa said.