Extremely rare condition breeds pain for infant, heartbreak for mom

Extremely rare condition breeds pain for infant, heartbreak for mom »Play Video
PUYALLUP, Wash. -- He's still but an infant, but Casen Buswell is just one of 14 in the entire world.

Of the billions of people in the world, Casen is one of 14 known to suffer from a painful condition that makes his mother nervous to embrace him.

Jenna Buswell knew something was wrong with her son, Casen, when he was born. But it took three months for doctors to come up with a diagnosis, and with it came many more questions.

Casen suffers from a rare condition known as Plaque Type Glomuvenous Malformations, which is caused by a missing gene.

When he is fully dressed, he looks like any other 12-week-old as he smiles and babbles on. But when Casen is shirtless, the toll of the disorder is clear. A vascular condition that was visible around his collarbone at birth is spreading down his chest and to his arms.

"The growth scares us. It's moving at an alarming rate," Jenna said as she gently ran her hand along Casen's exposed chest, over seemingly bruised flesh.

The family is just learning how painful daily life can be for Casen. His doctor told them they shouldn't even wash Casen's chest with a washcloth for fear of rupturing a vessel.

"He's most comfortable when in a diaper and able to lay out and not have that compression, even from clothing," said his mother, who must think twice before embracing her own child. "The touch is nerve-wracking. I want to cuddle him. I want to hold him, but when that cry comes that I know is the pain, it's hard not to think that I just did that."

In addition to the visible lesions, plaque is hardening in Casen's vessels, muscles and skin. The family was told there are 13 other confirmed cases in the world, but they know little about the other patients.

"What does their life look like now? What type of pain are they in? What pain therapies are there?" Jenna wondered aloud. "There's so many questions we don't have the answers to. And we're seeing the top leading doctors in the United States who just have no clue.

"As a mom, you want to take away all of the pain, and there's not any answers or research to know how to do that."

The Buswells have plans to see a doctor at Johns Hopkins Hospital. But their best chance to learn more is to travel to Belgium where two doctors have had some experience with Casen's disorder.

“To hear repeatedly every nurse and every doctor that came in (say), ‘We have never seen anything like this,’ you start to question,” said Jenna.

"He's absolutely perfect to us," Jenna said, "but we hope we can find him answers to live a normal, healthy, long life."

Meantime, the medical bills are mounting quickly. And with travel, the Buswells expect their bills to quickly reach the tens of thousands of dollars.

Their community is rallying around them with a number of fundraisers, including a garage sale scheduled to be held on Friday, May 18 and Saturday, May 19 from 9 a.m. to 3 p.m. at 17405 135th Ave. Ct. East in Puyallup.

Also planned are a basketball tournament, bake sale and raffle at Kalles Junior High School on Saturday, May 19 from 8 a.m. to 4 p.m.

A fundraising website has been set up at giveforward/com/casenpcifund, and donations can be made in Casen Buswell's name at any branch of Harborstone Bank.