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One little boy's very big day
PITTSBURG -- Among the down pours of rain and crashes of thunder, Lincoln Park held an inspiring sound Saturday afternoon -- children's laughter.
For the second year in a row, family and friends of a Holden Guilfoyle, 3, Fort Scott gathered at the park to cele brate the youth's life, and raise awareness about the extremely rare genetic disorder he endures.
Holden was diagnosed on Oct. 20, 2006 at the age of 2 with Mucopolysac charidosis type six, also referred to as Maroteaux-Lamy syndrome. This disorder is so rare only about 50 people are affected by the disorder in the United States.
There is no cure for this metabolic disease. However, there have been great advances in the treatment and control of the illness. Holden has been receiving weekly enzyme infusions since Dec. 20, 2006. This four-hour procedure is conducted in the Guilfoyle's home by a home health nurse every Tuesday. It is likely that Holden will need to receive these treatments for the rest of his life.
The infusions performed by his nurse, Mary Lou, replace the enzyme Holden is missing, arylsulfatase B, with a synthetic enzyme to assist his body in breaking down a complex sugar called glycosaminoglycan, or GAG. If he were to stop receiving these infusions, the GAG would build up in Holden's system eventually leading to organ failure and death.
Looking back Holden's parents Tim and Jenny Guilfoyle believe the symptoms of their son's disorder became apparent at a very young age.
"Holden was sick from 3 months on," said Jenny. "He had his first set of tubes at 9 months of age, had his adenoids removed at 9 months, not normal. But, we just thought he was our sick kid. We thought he was just sick all the time. We knew he had some hearing problems because of the tubes. Obviously ear infections -- chronic ear infections -- caused problems.
"The main factor which lead us to it was on his back. Instead of his spine curving in, he has a bump. We had x- rays taken of it and they said it wasn't a tumor it was just the way he was made."
After a large amount of waiting for available specialists and lab sample results Holden was officially diagnosed by doctors of Children's Mercy Hospital in Kansas City.
"The hardest part about your child being diagnosed with something like this is your doctors pick every characteristic about them apart," said Jenny. "The way his hands are the way his face is shaped, the doctors would go over every piece of him and photograph part of him. That was very hard to sit through."
Despite the discovery their son's disorder, Holden's parents, Tim and Jenny, remain mostly positive and say they are thankful Holden has type six. There are believed to be seven types of this disorder. Only types six and four are not fatal and do not affect the person's intellect.
"What do we have to com plain about? He has type six. We never have to worry about him forgetting his ABC's or wonder if he has just forgotten temporarily."
After all of their experiences with the disorder, the Holdens decided to put together an event to raise awareness and help fund some of the medical expenses Holden accrues. Each month's supply of enzymes comes with a $32,000 price tag.
" Everybody told us we should have a bake sale or do a raffle or do something to help raise awareness and to learn about Holden," said Jenny. " We just came up with the idea of having a big kids day and people would want.
"Our goal is that (the words) MPS become as common as cancer. I mean, we want people to hear the words MPS and know exactly what we're talking about."
Jenny's husband Tim described the frustration in talk ing to a doctor who is unfamiliar with the disease.
"We wanted people to know about MPS because no one we talked to knew," he said. "None of the doctors we talked to other than the ones at Children's Mercy knew anything about it. When you talk to doctors around here they remember vaguely hearing about it in genetics class.
"We have have a firm belief that there are more kids with it than are diagnosed, due to misdiagnosis of common illness."
This year's event was dampered sightly by rain and storms, however, numerous visitors stopped by the tents to pay tribute to Holden. Last year the celebration brought in almost 200 people and raised nearly $2,700.
Those interested in more information on Holden or MPS type six can visit www.holdenshope.com, www.caringbridge.org/visit/holdenguilfoyle,www.mpssociety.org, www.maroteaux-lamy.com or simply search the disorder online to find dozens of additional resources.