Sep. 1--BLOOMINGTON -- Sydney Van Hook, age 3 1/2, jumped into the O'Neil Park Pool, played with her dad in the water for awhile, then climbed back out, kissed her mom and did the same things all over again.
And again. And again.
"With everything that she's been through, I don't think it can be any better right now -- with the exception of her back, and that doesn't slow Sydney down," said her mother, Tosha Roberts. "Nothing does."
Sydney Van Hook, of Bloomington, has the rare disease Hurler Syndrome, or MPS (mucopolysaccharidosis) 1. The disease has inhibited her growth, caused a back curvature and speech delays, and resulted in an original life expectancy of five years. Pantagraph readers were introduced to Sydney in early 2006.
After surviving a bone marrow stem cell transplant, developmental and speech therapy and numerous illnesses, Sydney has her energy back and is an active child.
Her parents are optimistic about her long-term prognosis. But they also have been through enough to know there are no guarantees.
"I think she's doing fine," her father, Steve Roberts, said from the pool where he and Sydney were playing late afternoon Aug. 13. "With the exception of her (curved) back, if you didn't know about her, you'd think she was a normal 3-year-old, running around, jumping and swimming."
Sydney was busy that afternoon, walking on the pool deck, playing with her dad in the water, and pointing out her older brothers, Dylan, 9, and Tyler, 7, who were playing elsewhere in the pool. Most of the time, she was smiling.
But after awhile, some limitations became more apparent.
In addition to her back curvature, she walks and runs with her feet at nearly a 90-degree angle from each other, and she has a limited vocabulary.
"She uses 40 to 50 words now," Tosha said. She speaks at about the level of a 15-month-old.
Steve Roberts said "I think the speech will come with time."
Hurler means every cell in Sydney's body lacked an enzyme needed to break down complex sugars or proteins found in all connective tissue. Without the enzyme, the sugars and proteins accumulate on organs, causing disease and preventing normal organ function.
In Sydney -- who was born on March 5, 2005 -- Hurler caused ear infections, sleep apnea, a rounded nose, clouded corneas, an inability to extend her arms up and her fingers out, a restricted airway and small neck.
On March 31, 2006, she received a bone marrow stem cell transplant at Children's Mercy Hospital in Kansas City. Her bone and marrow transplant specialist, Dr. Charlie Peters, said the transplant was a success. Sydney then received chemotherapy, battled viruses and infections, and got caught up with her childhood immunizations.
Peters was pleased when Sydney got past the most critical time -- the year following the transplant. While Peters was not available to speak with The Pantagraph for this story, he said last year that Sydney's long-term prognosis was good, even though Sydney would need help in some areas.
He explained that a large proportion of Sydney's bone marrow cells are from the transplant donor and that bone marrow will function for the rest of Sydney's life, pumping out cells to make the enzyme that Sydney had lacked.
The only negative development in recent months has been Sydney's scoliosis (curvature of the spine).
"Her spine curvature has been rapidly progressing," Tosha said. The last time her spine was measured, the curvature was at 59 percent, she said.
"Kids need back surgery at 65 to 70 percent and she's at 59 percent, so we're about there," Tosha said.
"That was shocking. We weren't expecting it (back surgery) until her adolescent years."
A full upper torso brace was molded for Sydney and she began wearing it about two months ago.
"She's supposed to wear it eight hours a day," Tosha said. "But it's a struggle. It's hot and very restricting."
Because Sydney's ribs bow out, the brace restricts her breathing, Tosha said.
Sydney's enzyme levels continue to look good. While she did not have therapy this summer, her father took her swimming to O'Neil Pool or to Holiday Pool nearly every day after he got off work. He is the pharmacy department manager of the Wal-Mart on West Market Street.
"This is kind of a nightly thing for her," Steve Roberts said as he played with Sydney in the O'Neil Pool, as Tosha looked on. "And it's good therapy too."
The Roberts believe the daily swim also has improved Sydney's sleep patterns. The girl who once suffered from sleep apnea now generally sleeps through the night.
Sydney also has adapted in another way. Tosha gave birth to Cameron, a boy, on July 8.
"Sydney just adores him," Tosha said of Cameron, as he slept in his infant carrier beside his mother.
"She's been a little rough on him," Tosha said with a smile. "She thinks he's one of the bigger boys."
Steve and Tosha were married on Aug. 10, 2007, and Tosha changed her last name from Van Hook to Roberts. Sydney's last name will be changed eventually, her parents said.
Cameron had a one in four chance of having Hurler Syndrome. Testing revealed that he doesn't have the disease.
Tosha returned Aug. 18 to Heartland Community College in Normal and hopes to get into its nursing program.
"I'm hoping to return the favor. Everything that was done for Sydney, hopefully I can do for someone else."
With the start of school, Sydney is at Sarah Raymond Early Childhood Education Center in Bloomington in the morning. "She's doing awesome," Tosha said.
During afternoons when her mother is in school, Sydney is in child care at Heartland. "If anything were to happen to her, I'd be right there," Tosha said.
The Roberts know Sydney will need work on her speech, in addition to back surgery. For now, they're satisfied that she has survived her first 3 1/2 years and is happy.
Sydney ran up to her mother and gave her a hug.
"She's still running," Tosha said. "Nothing is slowing her down."
------
Hurler facts
--MPS 1 or Hurler Syndrome is a disorder inherited from both parents and is caused by the deficiency of an enzyme called alpha-L-iduronidase. The enzyme is required for the breakdown of glycosaminoglycans (GAGs) that are found in all connective tissue.
--Because connective tissue provides structural support to organs, bones, joints and heart valves, insufficient quantities of the enzyme cause GAGs to accumulate in all organs of the body, causing disease.
--There is no cure. Treatment includes enzyme replacement therapy, treatment of symptoms, physical therapy and continuous positive airway pressure machines.
--While doctors originally guessed that a successful transplant may extend Sydney's life for 20 years, no one knows for sure. To see more of The Pantagraph, or to subscribe to the newspaper, go to http://www.pantagraph.com. Copyright (c) 2008, The Pantagraph, Bloomington, Ill. Distributed by McClatchy-Tribune Information Services. For reprints, email tmsreprints@permissionsgroup.com, call 800-374-7985 or 847-635-6550, send a fax to 847-635-6968, or write to The Permissions Group Inc., 1247 Milwaukee Ave., Suite 303, Glenview, IL 60025, USA.
Copyright (C) 2008 The Pantagraph, Bloomington, Ill.