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Arbutus Lansdowne

News Maryland Baltimore County Arbutus Lansdowne

Lansdowne family struggles with diagnosis of rare disorder

Connor Berry toddled around in the sand at a Lansdowne playground on a recent summer afternoon, playing with his older brother Camden on the jungle gym.

Nearly 2 years old, Connor is slightly smaller than other children, but they didn't seem to notice.

At 6 months old, Connor was diagnosed with Robinow Syndrome, a type of dwarfism that affects skeletal development. The rare disorder affects fewer than 200 people worldwide, according to National Institutes of Health information.

"As of right now, he's doing OK, health-wise. But I worry about how he's going to see himself when he looks at other kids his age, and how they're going to see him, and what obstacles he's going to face being smaller than other kids," said his mother, Caitie Berry, 26, seated in a swing at the park near the family's home and keeping a watchful eye on her young sons.

Many affected by the disorder face a number of medical problems, including heart defects, respiratory problems and spinal issues, said Kim Kremeier, 38, resource manager for the Robinow Syndrome Foundation, an organization of 180 families around the world with children affected by disorder.

Kremeier said the health issues vary from person to person, and many with the disorder frequently need surgeries and other medical care.

The Robinow Syndrome Foundationoffers a network of support to families and a way for parents to share knowledge with each other and the medical community, Kremeier said.

"We give advice to families to make sure their children are in good health," Kremeier said.

Kremeier explained that advice includes paying close attention to respiratory and heart conditions.

Each year, the organization holds a convention at a different site, and the foundation offers financial assistance for those who cannot afford to attend, Kremeier said. This year, the event will be held July 17-20 in Schaumburg, Ill.

To help support that, a quarter auction will be held July 10 at 6:45 p.m. at the Arbutus Town Hall at 1349 Stevens Ave. to benefit The Robinow Syndrome Foundation.

There are two versions of the disorder: recessive and dominant. According to the NIH, autosomal recessive Robinow syndrome is caused by mutations in the ROR2 gene, while the genetic cause of dominant Robinow syndrome is unknown.

The recessive form is less common and more severe, Kremeier explained.

Berry discovered something was different about her second child during a checkup when she was 19 weeks pregnant, she said.

During an ultrasound checkup, the nurse repeatedly took her measurements, and she knew something was different, Berry said.

"The doctor came in and told us he thought that Connor had a terminal type of dwarfism and that he wouldn't survive the pregnancy," Berry said. "From that point on, it was terrifying. I had to have ultrasounds every four weeks, but still, nobody had any idea what was going on."

Berry said Connor was diagnosed with the dominant form of the disorder.

"The way they diagnose that is they look at his characteristics alongside of those who have already been diagnosed...it's just a clinical diagnosis because they don't have a test for it yet," Berry said.

Kremeier said because the disorder is so unusual, there is little medical knowledge available.

"Because it is so rare, it's like a needle in a haystack trying to find a doctor who has ever treated a patient with it," Kremeier said.

Juliana Mazzeu, a researcher at the Catholic University of Brasilia in Brazil, has been studying Robinow Syndrome since 2000.

"Clinical diagnosis is difficult especially for the dominant form, and several patients are misdiagnosed," Mazzeu wrote in an email. "Genetic tests can be done to confirm diagnosis of the recessive form. But for the dominant form, a negative result doesn't mean the patient is not affected with Robinow syndrome.

"Because the syndrome is so rare, families should talk to other families with the syndrome to discuss everyday challenges. Sometimes a second opinion with another doctor may be necessary for confirmation of clinical diagnosis," Mazzeu wrote.

Connor is being treated by Julie Hoover-Fong, a doctor who specializes in clinical genetics at Johns Hopkins University, Berry said.

She isn't familiar with the rare disorder either, but the family was referred to her by a doctor at Sinai Hospital in Baltimore City, Berry said.

"We're drowning in medical debt right now," Berry said. "We do have insurance. But some families don't have insurance."

Berry works as an office assistant at Giant and her husband, Donnie Berry, 29, works as a technician for Safelite AutoGlass.

She said the medical bills get overwhelming at times.

"They just keep piling up, but we just do the best we can," Berry said. "We make our minimum payments each month."

Berry said although other children don't notice Connor is different, adults do.

"The kids haven't really noticed at all. It's just the parents," Berry said. "You just get looks every now and then."

"I hate when I tell somebody he has a dwarfism and their reaction is 'I'm so sorry.' It's nothing to be sorry about," Berry said. "It's fine. He's just different."

A friend Casey Howe, 26, of Arbutus, said, "It bothers me because everywhere we go, people ask her why he's so small."

"It has to get tiring, explaining it over and over again," said Howe, wearing a blue shirt that read 'Team Connor.'

Despite concerns about the uncertainty of her son's future, Berry remains optimistic.

"We've had a lot of support from both of our families," Berry said. "Right now, he's healthy."

For additional information about the Robinow Syndrome Foundation, go to http://www.robinow.org.

Copyright © 2015, The Baltimore Sun
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