Steamboat family organizes snowshoe event to support hydrocephalus research
March 9, 2011
Hydrocephalus is the undesirable retention of brain fluid. It may be the result of bleeding in the brain, head trauma, meningitis, tumors or cysts.
The body’s inability to absorb excess fluid causes swelling in the head, putting pressure on the brain.
Some experts say the disorder occurs in 1 in 500 births, others say 1.5 per 1,000 births. It’s often misdiagnosed.
Hydrocephalus is a condition, not a disease. There is no cure. Treatment is by surgical insertion of a flexible tube called a shunt placed into the brain to divert flows of excess cerebral fluid to another area of the body where it can be absorbed. A valve within the shunt maintains normal fluid pressure in the open areas (ventricles) of the brain.
Steamboat Springs — If you could spend 45 minutes with 6-year-old Sofia Karch, of Steamboat Springs, it's likely you would never guess she suffers from a neurological condition that makes her grasp on life tenuous.
Sofia is bright-eyed and quick to smile even after a long day in her first-grade classroom at Strawberry Park Elementary School. She's inquisitive about everything from mathematics to minor squabbles between her pet goats Meadow and Mama.
"I'm going to have a horse pretty soon this summer," she said Tuesday, excitement evident in her voice.
Her mother and father, Laura and Christian Karch, exchanged doubtful glances upon hearing their daughter's news. Their focus right now is squarely on Saturday's Snowshoe Walk at the Steamboat Ski Touring Center to support research by the Hydrocephalus Association.
Hydrocephalus is a disorder that prevents people young and old from properly regulating the cerebrospinal fluid that nourishes and cushions the brain.
Without cerebrospinal fluid, the brain can collapse on itself. But when a person, for one of several reasons, does not properly re-absorb the fluid into the bloodstream, it can cause the head to swell and put pressure on the brain. And that can result in death if not corrected quickly enough.
"It's a plumbing problem," Christian Karch said. "That's an easy way to explain it."
The Mayo Clinic reports that one out of 500 infants is born with hydrocephalus. Sofia was diagnosed with the condition when she was 2 years old. Christian Karch said 1 million Americans live with the condition.
What frustrates Sofia's mother and father is that the technology behind the medical devices — the surgically implanted shunts and valves that keep their daughter alive — are 60 years old and unreliable. When they fail, it leads to emergency brain surgery. And when things go wrong with a stroke or an infection, they can really go wrong.
"You have to get to a neurosurgeon in 24 to 48 hours," Christian Karch said. "I never go anywhere without Sofia's MRIs and medical records in my man bag."
Sofia appears to be the picture of health, and that's fantastic news for her parents, but her apparent vitality also embodies a big challenge for families dealing with a health problem that is misunderstood and underestimated by most Americans.
The shunts and valves that allow hydrocephalus patients to lead mostly normal lives only cost $3,000, which makes them unattractive to companies developing new medical devices.
To make his point, Christian Karch pulls out a 60-year-old camera.
"Would you want to take pictures with this?" he asks. The medical devices used in treating hydrocephalus are "good because they keep you alive, but terrible devices to live with."
That's why families of the patients are rallying around a former Microsoft executive whose child suffers from hydrocephalus to fund the research on their own.
Family members all across the United States last year hosted hydrocephalus walks like Saturday's snowshoe event in Steamboat and raised $800,000 to hire and equip five researchers. The expectation is that the researchers will come up with more reliable technology to regulate fluid and pressure in the brains of hydrocephalus patients.
"We've already raised $30,000 with our event in Steamboat," Christian Karch said.
Laura Karch hopes the impact of the research goes beyond hydrocephalus.
"I think it could lead to treatments for other brain disorders like Alzheimer's," she said.
Already, Sofia has endured two brain surgeries, but there are young adults suffering from hydrocephalus who have endured 16, 19 even 91 costly brain surgeries to replace shunts and valves. And the emotional toll on family members who must live with the worry that the low-tech devices will fail is incalculable.
— To reach Tom Ross, call 970-871-4205 or e-mail tross@SteamboatToday.com