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Girl's 11th Birthday Party Highlights Dangers Of Rare Spinal Illness
By Bill McLaughlin
It was Carly Ruhnke's 11th birthday last Saturday and she shared it with a hundred friends and relatives at a party at the Bayville Elks Lodge 2394.
Carly and other children who have the rare Morquio Syndrome were guests of honor at a fundraiser to promote research on the disease.
Carly's dad, Edward, described knowing something was wrong as early as 4 months old. By the time she was 1½, his worst fears had been realized.
Diagnosis and early treatment are essential to slowing down the process which makes the patient deal with spinal cord compression, constricted breathing and difficulty walking.
"There was a very negative (prognosis) when Carly was first diagnosed," her father said. "Most parents are devastated to start with, then they look for support and there isn't as much as other childhood diseases. Even the Internet didn't have a lot to go on."
Ruhnke, a private investigator, said the cost of even the most basic procedure is eye-popping.
"Carly had an MRI recently that cost $5,000," he said. "When all was said and done, I got a check from the insurance company for 97 cents. Medical insurance companies don't greet us with open arms. They fight us every step of the way."
Ruhnke said his daughter underwent an operation to fuse 11 discs and the insurance company treated it as one large operation.
"But it isn't really," he said. "Every operation is in multiples because you have to do one procedure to prepare for the next. They say she has had a half-dozen surgeries but it's closer to 20."
A St. Louis University researcher, Dr. S. Tomatsu, described the rare illness, which afflicts one in 200,000 births worldwide, and its effects to the crowd with a slide show presentation.
Dr. Tomatsu, who studied under Dr. K.O. Orii in his native Japan, told the audience that enzyme therapy is the great hope in treatment. A critical trial study by a small Swiss pharmaceutical company will begin next year. Dr. Orii, working virtually alone 20 years ago, pioneered the first research studies.
"It's so rare, sometimes it's neglected," Dr. Tomatsu said. "Big drug companies don't want to study it because there's no money in it. That's a shame because the patients are very smart kids and they can contribute to society, can go to college and function well."
His aide, Dr. Adriana Montoyo, said the inherited disease is rare enough that some physicians may never see a patient so afflicted. She said the rates of prevalence vary from 1 in 76,000 births in Northern Ireland to 1 in 500,000 in Japan.
The Colombia native said research has shown 70 percent of patients are Caucasian in ancestry but any ethnicity can be afflicted. Of 326 patients in the clinical study group, there is nearly a 50-50 split by sex.
Last Saturday's party was also a chance for families and friends of Morquio victims to meet and share their thoughts. Mary Smith, who began a foundation to help get treatment for her daughter Carol Ann, spoke of having no support group years ago, so the parents had to provide their own.
Judy Noonan, president of the Holiday City- Silver Ridge Senior Coalition, announced after the party that the seniors group would put on a benefit for Carly this spring.
The Elks Club staff donated their time to make the event special. Mike Lawlor, chairman of the Special Needs Committee for Children, was assisted by lodge chef Chris Fisher, and house committee chair Vince Hewitt. Don Lowe, who will become lodge exalted ruler April 1, and John Beasley, incoming leading knight, supervised their brethren.
Anyone interested in donating money for research can contact cruhnke248@comcast.net.
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