Hydrocephalus: The Million Americans No One Knows About

As she went into surgery, I tried to reassure her, the way only the naive can do. We were both just scared, twelve-year-old kids. “I love you, dude,” I said. She repeated the words, an affirmation of our friendship.

I could barely understand her words through the tears. Her mother, Jan, whom I’d affectionately known as my second mom for years, promised to call when Sarah came out of surgery.

Sarah was born with hydrocephalus, where cerebrospinal fluid (CSF) accumulates in the brain, unable to disseminate through the spinal column to the rest of the body. Excessive CSF often results in head enlargement, skull bone separation, mental impairment, vision problems and death.

Jan first heard the word hydrocephalus at six months’ pregnant:

“The doctors in DC said the prognosis was certain and grim. At Johns Hopkins, they said there was a chance she’d be okay mentally but we were still positive she would be blind.”

When Sarah was born, however, the APGAR test yielded surprising results. While her mental capabilities would remain indeterminable for years, her vision was normal. Still, there were other issues.

Sarah’s brain matter was stretched out into a fragile, membrane thin lining. Jan explains, “We had to hold her on a board, bringing her down little by little. If we lowered it too quickly, her brain would collapse. It was terrifying.”

If you haven’t heard of hydrocephalus, you’re not alone. Although more than one in 1,000 infants in the U.S. are born with the condition, there has been little discussion or research about it. While hydrocephalus is most commonly diagnosed in infants, it affects both young and old, and can be a side effect of an injury to the brain.

Congresswoman Gabby Giffords was diagnosed with hydrocephalus after the tragic shooting on January 8th, 2011. She later received a shunt, a fluid-regulating mechanical device commonly used in hydrocephalus patients, and is helping to raise awareness.

The programmable shunt that Congresswoman Giffords received remains the most common treatment option for individuals with hydrocephalus. That treatment, however, has barely changed since 1952.

Jan recalls the promises the doctors made over 25 years ago. “They said that one day Sarah would be able to use a computer to see the pressure stats and adjust the shunt as necessary.” That never happened. The term programmable is misleading. Each adjustment requires a doctor’s visit. Jan adds, “It hasn’t been as helpful as we’d hoped. When we change one setting, it nearly kills her.”

Living with an adjustable shunt is the medical equivalent of trying to build a house on a constantly shifting foundation. Barometric pressure, air travel, and even MRI’s can change pressure levels. Every time Sarah gets a scan to determine what’s wrong, she risks making her headaches worse.

Sarah and I had planned to visit a family friend in California but fortunately, she canceled at the last minute because she hadn’t been feeling well. We would have been on the plane when her shunt malfunctioned. Her doctor, world-renowned surgeon Ben Carson, was in St. Louis.

Residents at Johns Hopkins performed shunt taps throughout the night to alleviate Sarah’s high shunt pressure until Dr. Carson arrived. If they failed to expel enough fluid, the pressure increase would lead to a heart attack. When Dr. Carson scrubbed in, they took Sarah into surgery. The doctors told her she had been given, “a golden shunt.” The record for a shunt at Hopkins was 13 years. Sarah’s lasted 12.

A week after surgery, however, an infection set in. Sarah became a “frequent flyer” at Johns Hopkins. Sarah’s mom remembers thinking they’d go in, have the shunt replaced, and life would go on. Then she saw Sarah’s roommate, another young girl with hydrocephalus who had endured more than 20 surgeries.

It’s not uncommon to have multiple revisions. In fact, 50% of shunts fail within two years, requiring further surgery. “I looked at her, in so much pain, and I thought, could this ever happen to us? Little did I know it was about to be our turn,” says Jan.

A few weeks later, the infection worsened. Randy, Sarah’s father, remembers being told, “If she lasts until Saturday, we’ll have to quit the meds because it’s killed all her white blood cells. If we keep going, the drugs themselves will kill her. If she still has the infection then, she’s going to die.” The doctors told him they could only continue antibiotics for a few more days.

Despite the illness’ severity and prevalence, there is little science to support current treatment options. Sarah’s parents did whatever they could to get information. Randy faked his way into accessing medical publications.

“We were pretty educated,” says Jan. “But what you don’t realize is that the doctors don’t have all the answers. We assumed there was research going on. We didn’t know of anyone at Hopkins researching hydrocephalus. That was surprising.”

Even after eleven surgeries, Jan still considers Sarah one of the lucky ones.

“I think for the most part our experience is much better than most. Okay, Sarah had that bad spell all through middle school, and that was horrible, but we made it through.”

You know it’s a bad illness when you consider yourself lucky after a dozen surgeries.

Hydrocephalus is not one of the “pretty” illnesses. There are few stories like Sarah’s where the individual comes out stronger on the other end. Thirty percent of hydrocephalics have mental disabilities and are written off because people believe they can’t be cured. The families of the afflicted are waiting for more research.

“You sentence all these people to a lifetime of replacement surgeries. It’s frustrating to us. There has never been a single person that has done anything for Sarah other than replace her shunt.”

The Hydrocephalus Association hopes to increase funding for the condition in order to study its cause, as well as prevention and treatment. Through focused research, they can improve clinical outcomes and quality of life for hydrocephalus patients.

Sarah and I are 26 now. In January, she will return from graduate school in the UK. When she steps off the plane, she’ll have a degree, and most likely, a headache- since the flight will change her shunt pressure.

While the shunt can be an effective device, it has not cured the condition. My friend could be due for five or six more shunt replacements in her lifetime, assuming each one works perfectly.  Sarah’s story is empowering but not uncommon. She is proof that we cannot abandon what we consider difficult, that there can be a great future, no matter how grim the prognosis.

When Sarah goes for follow up visits, doctors put her scans on the wall, and ask residents to make a prediction. They say she’ll be blind; she’ll have motor skill problems, and may be mentally disabled. Then Sarah walks in.

Sarah: I love you, dude.

All facts, unless otherwise noted, are courtesy of the Hydrocephalus Association.

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