Specialty clinic team serves as resource for little people

Patients with skeletal dysplasia, or dwarfism, who benefit include Marielle, 10

Adam and Julie Brown pose with their children, Austin and Marielle. Adam, Julie and Marielle all have skeletal dysplasia.

When Julie and Adam Brown adopted their daughter, Marielle, from China, they had a few things to get used to beyond the language and cultural differences.

For example, she joined their family in 2018 at age 9, with a lot of personality and skills already developed. They adopted their first child as an infant in the U.S., and the Browns watched each new step in development.

And Marielle is a girl who enjoys painting fingernails and working on crafts. Their older child is a boy who prefers other activities, though he adores his new sister.

Marielle also has skeletal dysplasia, or dwarfism. Her parents share the condition as well, but their oldest child — now 14 and 5-foot-10 — does not. So Julie has found herself thinking back to her own childhood as she watches her daughter navigate in her environment.

Learn more: Pediatric specialty care at Sanford Children’s

One big difference between Julie’s childhood and her daughter’s is close access to specialized care for health concerns related to skeletal dysplasia. When clinical geneticist D. Isum Ward arrived to work at Sanford Children’s Specialty Clinic in Sioux Falls, South Dakota, in 2018, he brought a passion to provide resources to people in the region who have skeletal dysplasia — people who otherwise would have to travel long distances for this type of specialty care.

Team monitors patients

During his genetics training at Johns Hopkins University, Dr. Ward became interested in skeletal dysplasia, which can be hereditary or caused by genetic mutations and may occur in 1 in 5,000 births. A rare condition that runs in his own family and affects one of his parents helps him relate.

“I understand very firsthand how scary that can be to have something that most doctors aren’t familiar with, don’t know very much about, and to want to understand something more but not know how to get information,” he said.

And while Julie knows a lot about the aspects of her daughter’s condition, she will rely on the Sanford Health team Dr. Ward has built, which includes physical medicine and orthopedics, to keep an eye on potential medical issues that could arise for Marielle in the future. Currently, Sanford offers a skeletal dysplasia “clinic” for a half-day every other month, where patients can have all of their specialist appointments clustered on the same day.

“I can see the more positive outcome for families to be able to go to one clinic and get everything covered,” said Julie, whose family lives in nearby Brandon, South Dakota. “Especially if they’re coming from farther.”

Adopting Marielle

Julie and Adam learned about Marielle through Little People of America (LPA), a nonprofit organization that offers support in a variety of ways to people of short stature. One such way is by helping to link prospective parents to children with dwarfism who are available to be adopted.

The Browns hadn’t actively been looking for another child to adopt when they found out about then-8-year-old Marielle. “We prayed about it and kind of felt she was ours,” Julie said.

When she was several months old, Marielle had been left at a government building in China. She was placed in an orphanage until age 6, when she moved into a foster home.

After some paperwork delays, the Browns traveled to China in summer 2018. Marielle became a U.S. citizen at the beginning of August, then started school here soon after.

At Marielle’s first checkup with a pediatrician, the pediatrician mentioned Dr. Ward’s skeletal dysplasia specialty.

Julie and Adam welcomed the chance to get a baseline assessment for Marielle, “knowing what the future health kind of concerns can come up, the chronic problems that we can have,” Julie said.

Health issues that may arise

There are hundreds of types of skeletal dysplasia, but Julie, Adam and Marielle all have achondroplasia, which is the most common type.

Julie said that at 4-foot-2, she and Adam are about average height for achondroplasia, which causes arm and leg bones to be shorter than average. Marielle is currently about 3 feet tall.

People with achondroplasia don’t necessarily have health problems, but certain complications can arise in childhood or in adulthood.

For example, Julie and Adam both had surgery as children to correct bowing in their lower legs. Adam traveled halfway across the country, from Texas to The Johns Hopkins Hospital in Baltimore, for his surgeries.

At this time, Marielle is in great health, and her limbs need no corrective action. But Dr. Ward’s skeletal dysplasia team at Sanford Children’s will monitor her with yearly exams. They’ll watch for signs of spine curvature, which Julie has, though hers hasn’t required treatment yet. Spinal stenosis, where the spinal canal narrows and pinches the spinal cord, is another possibility. Spinal problems can occur in infancy as well.

As adults, Julie and Adam have some chronic back discomfort. Julie also has had tubes placed in her ears. Ear infections and other ear, nose and throat issues — including sleep apnea — can sometimes arise because of differences in facial structure.

Help extends beyond medical concerns

While he’s part of Sanford Children’s and gets consulted when babies are born with skeletal dysplasia, Dr. Ward and his team also see patients of all ages from the Dakotas, Minnesota and Iowa. He works in conjunction with primary care providers, providing guidance on growth evaluation and health issues concerning little people — even stroller shopping advice for a child’s neck care.

“It really is best practice for anyone with short stature or a known skeletal dysplasia to be evaluated at least one time by a geneticist so that they can learn about their diagnosis and what the risks associated with it are, and then they can go from there,” he added.

Dr. Ward’s support for little people extends well beyond medical issues. He aims to be a source of information and advocacy.

He wants to reassure children in rural areas who might not ever see other little people. And while teenagers typically struggle less with orthopedic issues, they do have other concerns. He counsels them on safe participation in physical activities like sports, for example.

Also, Dr. Ward said, “you deal with the social aspects, the problems of self-perception and self-esteem issues. Not always a problem with everybody. …  But for a sizeable portion, it does become an issue, and we act as a support structure for that.”

He counsels adults on their risks for reproduction, such as the 25% chance for people with achondroplasia to have a “double-dominant” pregnancy involving a skeletal dysplasia gene from each parent. It’s a fatal condition for the fetus.

In addition, Dr. Ward is happy to act as an advocate for little people. “We do a lot of work in helping to make their day or their lives better by working with schools and workplaces,” he said.

Adaptations and perceptions

Marielle’s home was already adapted when she arrived. “We have stools all over to reach things,” Julie said. They climb onto the countertop to reach the upper cupboards. Their vehicles are also adapted for driving.

Julie and Adam are used to buying clothes for themselves and then modifying them to fit, and now they do the same for Marielle.

Accessibility in public, however, can be less certain. Petite Marielle might struggle to open heavy doors that don’t have handicap-accessibility, or to see over high countertops in restaurants or stores.

Public perception can also be an issue, especially in a new environment. Julie encourages people in public to ask questions of them, rather than watching other parents stifle their kids’ curiosity. “You want to educate them and say, ‘Hey, I’m this way because …’” Julie said.

And, despite shorter arms and legs, “we basically can do most anything anybody else can do, or we’ll figure out a way to do it.”

One other point of education: People in the skeletal dysplasia community prefer the terms “dwarfism” and “little people” and their variations, along with “short stature.” But they consider “midget” unacceptable and derogatory. The LPA is advocating to eliminate the use of the word throughout society.

Advice for other parents

Marielle’s school “has been very accommodating in whatever she needs,” Julie said.

Marielle, who loves school, has an independent spirit; she prefers to use as little assistance as possible. She’ll use a step stool if she needs it, but she has the same size desk as every other third-grader.

“I was very much like that, too,” Julie said. “I didn’t want to call attention to myself.”

Marielle has been learning English, but Julie said she doesn’t say much about being little. “I don’t know that she really realizes why she’s so much different, or if she really realizes.”

Julie, meanwhile, reminds herself that Marielle is 10 and can do a lot for herself, regardless of her size. And Marielle loves being helpful. “She’s not a baby. She is 10, and I want her to be as independent as she can be,” Julie said.

It’s advice she would share with other parents of children with skeletal dysplasia, too. Julie points to the example her parents, and Adam’s parents, set in homes where everyone else was average-sized.

“Both me and my husband were blessed that we have parents that treated us no different than our siblings,” she said.

Julie, like Dr. Ward, encourages new parents to turn to the little people community — LPA, which has regional districts — for help and answers and support.

“There are tons of people that will help walk you through it,” Julie said.

Most importantly for parents, though, “take each day and treat the child and love on that child just like any other child,” Julie said.

“Give them the independence. Tell them that nothing can stop them. Give them that confidence.”

More stories

Posted In Brain & Spine, Children's, Genetics, Orthopedics, Specialty Care

Leave A Reply