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Entries in glomuvenous malformations plaque type (2)

Tuesday
Oct162012

Baby with Rare Disease Closer to Getting Life-Saving Treatment in Belgium

Baby Casen Buswell suffers from a rare vascular condition called GVM plaque type. (Courtesy Jenna Buswell)(PUYALLUP, Wash.) -- It was after bath time and just before Jenna Buswell sat down to rock her 7-month-old son to sleep, when his body went limp.

"It was awful. He was unconscious for 25 seconds and taken to the hospital by ambulance," Buswell said of her son, Casen.

The infant is only one of 14 people in the world who suffer from a rare vascular disease called glomuvenous malformations plaque type.

The disease causes Casen's breathing to be labored and his blood vessels, skin and muscles to harden. It will only worsen as he gets older unless he receives life-saving care in Belgium costing hundreds of thousands of dollars that the working class Puyallup, Wash., family just doesn't have.

One week after the hospital scare, the Buswells have a lot to smile about. Not only has Casen had a "good" week, but they've received some significant financial help.

Racing enthusiast Ron Cook, 53, from nearby Arlington, raffled his beloved 1957 Chevy Bel Air on Sunday, netting $11,000 for the family, who were complete strangers to him before he saw a report on ABC News' affiliate KOMO.

The good deed was then carried on when the winner of the car, octogenarian Della Phillip, vowed to sell it and donate the proceeds to the Buswell family.

"It's hard to put into words that emotion when people you don't know are so generous," Buswell said. "This whole experience has shown not only me, but the entire community, how good people can be."

For Cook it was personal. Baby Casen's choppy breathing reminded him of his mother on her deathbed.

"My mom's disease was from smoking cigarettes," Cook said. "Casen hasn't even had a chance to live."

Tens of thousands of dollars have been raised in the community and at an online page set up by Jenna Buswell, but Cook wants more people to know about Casen so he can get the lifesaving treatment the boy needs in Belgium.

"It's going to take hundreds of thousands of dollars," Cook said. "We're not going to be able to raise the money here."

Dr. Miikka Vikkula and his wife, Dr. Laurence Boon, are the only doctors in the world who have established a treatment for the condition. The couple practices in Brussels, 5,000 miles from the Buswell's Washington home.

This past summer, the family made the trip to Belgium to meet with Vikkula and Boon, where they learned Casen will need monthly laser treatments for up to three years, which will help keep his vessels from hardening. The procedure will hopefully give him a shot at living a normal life, Buswell said.

"Our doctors in Belgium are the only doctors we've seen who have been able to give us a clearer picture about what we need to do to treat him," Buswell said. "We're struggling with how are we going to provide that for him."

The laser treatments were supposed to start when Casen turned 18 months, however his labored breathing and his hospital scare last week have caused them to reevaluate their plan.

Next month, the family will travel to the University of California at San Francisco where they will meet with a board of doctors who have been communicating with Boon and Vikkula.

"They will do an evaluation to see how progressed he is. We need to find out, is our timeline now or do we have a few months to get everything organized before we make a life-altering move to Belgium?" Buswell said.

Buswell, a special education teacher, and her husband, C.J., a contract administrator at a construction company, are looking to move to Belgium, a place where neither has ties, to cut down on the costly commute and hotel expenses.

The generosity of people like Cook and Phillip, and other strangers around the world, are giving Buswell hope her family will be able to soon afford a move to Belgium and alleviate Casen's suffering.

"Not a day goes by I don't receive some uplifting note, message, donation or card on my doorstep," she said. "The outpouring [of support] is what is keeping us fighting."

Copyright 2012 ABC News Radio

Tuesday
Oct022012

Baby Suffers from Rare Blood Hardening Disorder

Obtained by ABC(NEW YORK) -- Most mothers don't worry about hugging their babies.

Jenna Buswell, a Washington state mother of two, does worry about such close contact.

Buswell's bundle of joy, her 7-month-old son Casen, has a rare vascular condition that causes his blood vessels, skin and muscles to harden, and it will only worsen as he gets older.

"It's progressive, so once the skin starts to harden and thicken it becomes extremely painful," Buswell told ABCNews.com. "Right now, he is so, so little that we're noticing that to touch there are areas that are sensitive so we have to be careful about how we place him."

The condition, so rare that Casen is only one of 14 known cases in the world, is called glomuvenous malformations plaque type and is caused by a missing glomulin gene. If left untreated, it could ultimately lead to heart failure, Buswell said.

Lesions were immediately noticeable on Casen's chest when he was born, but it wasn't until the Buswells saw a geneticist nine weeks later that they began to get answers.

"The geneticist pieced it together and on a whim notified a few other doctors in the U.S. ... and then at that point notified the husband and wife doctor team in Belgium, who identified the gene Casen is missing," Buswell said.

Dr. Miikka Vikkula and his wife, Dr. Laurence Boon, are the only doctors in the world who have established a treatment for the condition, Buswell said. The couple practices in Brussels, 5,000 miles from the Buswell's home in Puyallup, Wash.

The Buswells, who also have a 3-year-old daughter, Cora, made the trip to Belgium this past summer to meet with Vikkula and Boon.

Casen will need monthly laser treatments for up to three years, which will help keep his vessels from hardening and it's hoped give him a shot at living a normal life.

"Our doctors in Belgium are the only doctors we've seen who have been able to give us a clearer picture about what we need to do to treat him," Buswell said. "We're struggling with how are we going to provide that for him."

The family's Puyallup, Wash., community wants to make sure Buswells don't have to worry about paying for the treatments. Strangers have donated thousands of dollars and held fundraisers to help cover the estimated hundreds of thousands of dollars in medical bills. A local drag-racing enthusiast was so touched by Casen's story that he said he planned to sell his beloved 1957 Chevy Bel-Air and donate the proceeds to the Buswell family.

"It gives us hope we're going to be able to do whatever it is we need to do," Buswell said.

Buswell, a special education teacher, and her husband, C.J., a contract administrator at a construction company, are now looking into a move to Belgium, a place where neither has ties, to cut down on the costly commute they'd otherwise face going from Washington to Brussels once a month.

Stefanie Putkowski, a registered nurse who works with the National Organization for Rare Disorders, said it's not uncommon for families to move thousands of miles to get treatment for a rare disease, but it's usually within the U.S.

"It's remarkable this family is considering moving to Belgium, but it's not at all inconsistent with the types of things we see all the time," Putkowski said. "Once there is a treatment, families will go to any length to obtain treatment for their child."

And for the smiling, wide-eyed 7-month-old, his parents are willing to do just that.

"My hope is he is able to do all the things little boys should do. Run around, ride his bike, play with his sister," Buswell said. "And grow up and live a fairly normal life."

 

Copyright 2012 ABC News Radio







ABC News Radio