In a bag is a treatment that's helping him live like other children.
"When you are a parent in this situation you have to learn to follow your instincts you have to learn not to take at face value what every doctor tells you," said Sean Clark, Ryan's father.
The Clarks say they knew something was wrong with Ryan at about 3 months. He didn't move like other babies and he had seizure-like symptoms. They say their concerns were originally dismissed but their persistence got them to a neurologist who agreed testing was needed.
"It was a process of elimination of grueling tests and then we finally got our diagnosis of pompe disease," said Mary Clark, Ryan's mother.
Pompe disease is a genetic disorder affecting only about one in 40,000 people. The body isn't able to break down a stored form of sugar called glycogen because of a missing enzyme. As a result, glycogen accumulates in the liver, heart and muscles. It starts destroying tissue causing muscle weakness and fatigue. It can be life threatening.
When Ryan was diagnosed six years ago, there was no treatment and the Clarks say doctors offered little hope.
"Don't have any expectations for your child and my husband asked, 'to walk?' And he said for anything," said Mary Clark.
Determined to help their son, the Clarks kept researching and found out about a clinical trial for an experimental treatment called myozyme. They say they had to fight their way to get into the trial. And in 2005 Ryan was accepted and started treatment at Duke University.
The movie 'Extraordinary Measures' tells the story of a father so desperate to save his two children with pompe disease he quits his job and raises millions of dollars to help a research scientist discover a drug to fight the disease.
"So they are receiving the enzyme that their bodies are lacking and they receive it in an intravenous infusion every 2 weeks," said Dr. Barbara Burton, geneticist, Children's Memorial Hospital.
Dr. Burton says the key is getting the drug to the right patients as soon as possible to help prevent permanent damage.
Myozyme is not a cure but it is saving lives.
"I think this is a great example of how one committed patient or parent or family can change the course of history or disease," said Dr. Burton.
Ryan now gets his treatments at Children's Memorial Hospital. His parents say thanks to the medication he is getting stronger and stronger every day.
"We are grateful for what we have but we know that things would be different if we did get it at birth," said Mary Clark.
The Clarks feel they are following in John Crowley's foot steps by successfully lobbying for newborn screening of Pompe and several other similar disorders. Illinois will begin screening later this year. It is the first state to do so.
Muscular Dystrophy Association
www.mda.org
Newborn Screening in Illinois
www.idph.state.il.us/HealthWellness/newbornfaq.htm
National Institute of Neurological Disorders and Stroke
www.ninds.nih.gov/disorders/pompe/pompe.htm
Dr. Barbara Burton
Children's Memorial Hospital
Children's Memorial Hospital
2300 Children's Plaza, (707 W. Fullerton Ave.)
Chicago, IL 60614-3363
1.800.KIDS DOC
2Outpatient Center in Westchester
2301 Enterprise Drive
Westchester, IL 60154
1.800.KIDS DOC
Association for Glycogen Storage Disease
P.O. Box 896
Durant, IA 52747
maryc@agsdus.org
http://www.agsdus.org
Tel: 563-785-6038
Fax: 563-785-6038
Acid Maltase Deficiency Association (AMDA)
P.O. Box 700248
San Antonio, TX 78270
tianrama@aol.com
www.amda-pompe.orgTel: 210-494-6144
Fax: 210-490-7161
