Faced with rare form of dwarfism, this family moved to Delaware for treatment at Nemours

At the Rea home in Newark, you'll likely find Christopher sitting in the family room, killing monsters in one of his many video games. His little sisters, Ashlyn and Ember, will be running around him, playing make believe — maybe re-enacting "Frozen."

The normalcy belies the family's medical situation. All three children have Morquio syndrome — a rare form of dwarfism. Only 300 people in the United States have the rare genetic disease, which affects about 1 in 250,000 people in the world. 

And three of them are in one family, defying the odds. The chances of all three children of the same parents having the most severe kind of Morquio is 1 in 64. Two of the family's five kids are not affected.

"Sometimes I think it's just really sad," said their mother, Carrie Rea. "They've been through so much already. They're not afraid when the nurses come and have to stick needles in them. 

"This is all they've known." 

That and the dedication of their parents, including dad David, and the medical professionals who take care of them. 

The family moved to Delaware from Florida because of Nemours/ A.I. duPont Hospital for Children's national reputation and expertise in the condition and all forms of dwarfism. 

Few doctors near their home in Florida knew how to treat Morquio. Most had never heard of it, said their mother.

Christopher, 18 years old, experiences the most common symptoms, specifically enlarged organs and a short stature. He is smaller than his 3-year-old sister and crawls to get around.

Despite having the same condition as their older brother, Ashlyn and Ember, ages 2 and 3, likely won't face the same physical challenges Christopher experiences because of earlier intervention and medical advancements in his lifetime.

"They can tell Christopher is different," Rea said of her two young daughters. "I think they take to him a little better because he's down on their level."

Morquio is an inherited disorder that gets progressively worse as a child ages. Most will never grow to be 4 feet and many don't live past their 30s, doctors say. That's because they can develop other issues, such as breathing and cardiac problems, as they don't continue to get taller, but their organs continue to age. 

People with Morquio are born without an enzyme the body needs to break down sugars that help build bones, cartilage, eye cornea, skin and connective tissue. As a result, these sugar chains build up in blood, cells and connective tissue, creating progressive damage to the body. 

Although the condition was first discovered in 1929, surgeries and drugs that help weren't available until a couple of years ago, said Dr. Shunji Tomatsu, Nemours' orthopedics principal research scientist.

Since Morquio is rare, most pediatricians and primary care doctors have never seen a patient with it. That means years can pass before a child is officially diagnosed, Tomatsu said.  

Nemours, which is considered a world leader in treating primordial dwarfism, has been caring for Morquio patients for 30 years, said Dr. William Mackenzie, chair of Nemours' orthopedic department. The hospital actively treats 55 patients with Morquio, some of whom come from Pakistan and Chile.

Christopher Rea, who has received multiple surgeries at Nemours, has one of the more severe Morquio conditions Mackenzie has seen. 

His symptoms started showing when he was 18 months old and included knocked knees and a sunken chest, his mother recalls. The illness also weakened his immune system, turning colds into serious bouts of pneumonia. That has hospitalized him many times, and caused doctors to warn Carrie more than once that he might not survive. 

The condition wasn't diagnosed until he was 4 years old. 

Rea became frustrated with the lack of treatment options offered by Florida doctors. She eventually turned to the internet, where she read about Tomatsu and his research at St. Louis University. Tomatsu, who would come to Delaware years later, recommended the Reas consult with Mackenzie.

When Christopher was about 6, the Reas made their first trip to Delaware so Mackenzie could perform a spinal fusion surgery to helped stabilize Christopher's spine. By then, Christopher had stopped walking.

For the next 10 years, Christopher visited Nemours three more times for different surgeries and procedures.

"It's nice to go to a place where they ask what your child has and when you say Morquio, they know what is," Rea said. "The secretaries know what it is."

The family decided to move to Delaware for good in December of 2016, after Tomatsu visited the family. By then, both Ashlyn and Ember had been diagnosed with Morquio. 

Tomatsu warned the Reas that as the three children grew, they would struggle to breathe and that the most common cause of death for people with the condition is dying in their sleep because of obstructed airways.

Although the lungs and neck eventually stop growing for Morquio patients, the trachea grows to be an average size, said Dr. Christian Pizarro, chief of cardiothoracic surgery at Nemours. Because of this, the trachea becomes twisted and compressed. So if people with Morquio need to be intubated for any reason, they could die if it is done incorrectly.

Just a year before the family moved, Dr. Christian Pizarro, chief of cardiothoracic surgery at Nemours, had shortened a Morquio patient's trachea, making it easier for him to breathe. In the three-hour procedure, Pizarro removed part of the trachea to make it better match the size of the patient's body. 

It was the first surgery of its kind, and he's done it eight times since. All have been successful.

When Rea and her husband learned about the trachea issues — on top of already knowing the girls would eventually need surgery — they decided it was time to move. They packed their minivan soon after and drove to Delaware. 

David was a truck driver in Florida. In Delaware, he works for a heating and air conditioning company. The children are on Medicaid because of their many medical issues. 

Tests later showed that Christopher's trachea was 90 percent closed, with the air channel the size of a coffee stirrer, Rea said. 

Christopher had the trachea surgery earlier this year and Ashlyn, the 2-year-old, had her first spinal surgery last month. 

Ember, 3, hasn't needed any surgery yet, though she will likely get the spinal operation within the next year, Rea said. All three receive weekly enzyme replacement therapy, during which they're hooked up to an IV for four hours each week. 

While the therapy helps with the proper growth of the organs in the chest and abdomen, it hasn't been shown to help patients' bone issues. 

Nemours researcher Molly Stapleton, who works for Tomatsu, said the bone is a difficult area to target because all the enzymes from the therapy get used up by the organs. As a result, they're unable to make it to the bone. 

Researchers are developing two drugs with a pharmaceutical company in the hope that they will penetrate the bones and provide the needed enzymes, Tomatsu said. 

One is a gene therapy, which would make sure the enzyme the children needs is continually replaced, Stapleton said. Instead of weekly IV treatments, that drug would be a one-time treatment.

Tomatsu, who is the lead Morquio researcher at Nemours, said the drugs are in the pre-clinical trial stage. The researchers are still waiting to receive preliminary data before it can be tested in humans. Tomatsu hopes to announce the results when Nemours hosts a Morquio conference in July.

Rea plans to attend that conference. She's excited to meet other families, especially mothers, who have children with Morquio. While she has connected with other affected families online, she and her husband don't have much of a support system in Delaware.

It's a tradeoff for a 20-minute drive from the leading experts who deal with their children's illness. Doctors there said Nemours treats the largest number of Morquio patients in the world.  

The move also has enabled the Reas to be more active, Carrie said. They often go camping and take the girls to nearby parks.

Some of the most beautiful places she's ever seen have been in Delaware, she said. 

“We feel this is where we were meant to be,” she said.

Contact Meredith Newman at (302) 324-2386 or at mnewman@delawareonline.com. Follow her on Twitter at @merenewman.

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