A Mother's Plea To Save Her Child From A Neglected Disease

Susan Fiorella, a mother of three and a colleague at Kaiser Permanente, recently shared with me the story of her son’s battle against a neglected disease. These are her words:

Nineteen months ago, I thought I was the mother of three healthy children. Suddenly our lives changed forever. One day, my beautiful, playful 2 ½-year-old son Jacob seemed to be suffering from a stomach bug. As the hours passed, he grew increasingly lethargic. We took him to his doctor’s office where we were told that Jacob’s vital signs were abnormal. Moments later an ambulance was called. We raced to our local Children’s hospital, where we were met by a team of exceptional physicians and nurses.

We learned that Jacob was suffering from hydrocephalus – a word we had never heard before. Hydrocephalus literally means ‘water on the brain.’ It occurs when fluid accumulates in spaces of the brain called ventricles, causing pressure to build up to dangerous levels.

Minute by minute, Jacob’s brain was being crushed against the inside of his skull. Our son was dying and required immediate surgery to save his life.

Days after the surgery, Jacob’s intracranial pressure came down to a safe level. Cognitively, Jacob was intact. But areas of the brain that control lower extremity function and balance were damaged.

Despite months in the hospital, followed by hundreds of appointments for physical and occupational therapy, we were grateful. We hoped Jacob could recover from his brain injuries and our lives could someday return to normal.

But four months ago he started vomiting and required another emergency brain surgery to reduce the rising pressure.

We now realize that there is no permanent cure for hydrocephalus. At any moment, without warning, excessive fluid can accumulate again, threatening his life.

We were shocked to learn that due to limited funding, the amount of research being done to find a permanent cure, better diagnostics or treatments is minimal compared to dozens of other diseases.

Something needs to be done to help children like my son and their families who suffer from this devastating problem.

A Doctor’s Take On The Problem

As parents, we can imagine how helpless Susan feels – fearing for her son’s health every day. As a doctor, I know many mothers share her concern. In the United States,6,000 babies are born with or develop hydrocephalus each year.

Hydrocephalus has been tied to inherited genetic abnormalities, premature birth and traumatic head injury. But its exact cause remains uncertain.

There are two treatment options but no cure.

One treatment is a surgery developed half a century ago. During this procedure, a neurosurgeon inserts a silicone tube into the fluid-filled space inside the brain (or “ventricle”) then tunnels it under the skin to the abdomen.

Using a valve, this “shunt system” diverts excess fluid to the abdominal area where it can be reabsorbed back into circulation.

However, approximately 40 percent of shunts fail within two years and 98 percent fail within 10 years. When that happens, doctors are usually forced to replace the entire system.

The second approach is newer but applicable only to a small subset of children. And while the alternative procedure eliminates the need for a permanent tube, the risk of obstruction can be life threatening, as in Jacob’s case.

The Economics Of Medical Research

Hydrocephalus affects more than 1 million people – from children to adults – according to Hydrocephalus Association.

Given the reach of this medical problem and its subpar treatment options, one might expect that finding a better solution would be a high research priority. It’s not.

National Institute of Health (NIH) funding for hydrocephalus research totals about $650,000 per year. Hydrocephalus is as common as Down’s syndrome, but nets 1/30th the public research funding. Parkinson’s, which also affects a comparable number of Americans, receives $200 million in NIH funding.

In fact, other than a handful of academic researchers and organizations like the National Organization for Rare Disorders (NORD), no one seems particularly interested in this problem.

That is, except the hundreds of thousands of parents who've lived in fear of repeat obstructions or emergency surgeries for their children or loved ones.

So, if hydrocephalus research matters so much, then why is there so little funding?

In the U.S., publicly traded drug and device companies fund almost two-thirds of all medical research. Although some of their dollars are invested in rare conditions, these companies often focus on the opportunities most likely to maximize profits for their shareholders. This skews their research agendas.

When deciding which investments to make, they typically consider three strategies.

First up: price. Profit-maximizing companies pursue treatments that will command high prices and can be protected through a combination of patents and aggressive marketing tactics. This eliminates clinical problems with relatively inexpensive solutions.

Second, they prioritize diseases that affect a larger population. This allows companies to maximize the total drug or device revenue, even when the unit price is not exorbitant.

Finally, they focus on solutions they can bring to market easily and cheaply. That means instead of trying to solve difficult clinical issues themselves, drug and device companies will patent a minor modification to an existing drug. They’ll buy a company that is developing a drug that’s well on its way to FDA approval. Or they’ll introduce a device through the expedited 510K process by showing it’s “essentially comparable to” an already approved product.

Based on these selection criteria, hydrocephalus doesn't make the cut.

Where Do Hydrocephalus Treatments Fit In?

Through the lens of a device company’s CEO, the profit potential for a newer “smart valve” to treat hydrocephalus is minimal.

The total number of suffering children is comparably low, about 1 in every 500 births. And the total number of shunt operations performed per year in the U.S. (36,000) is relatively small.

Manufacturers instead invest in more common procedures like the 700,000 knee replacements and 350,000 hip replacements that are performed each year in the U.S. – even when their next version is only minimally different than the multiple options on the market today.

This free market approach helps drug and device companies please shareholders and has helped their industries become some of the most profitable in the U.S.

But this approach neglects many life-threatening conditions like hydrocephalus.

A New Approach To Research Funding

There is a compelling financial and social incentive for funding hydrocephalus research.

Minimizing the number of shunt failures or avoiding shunt use altogether could save billions in medical expenses each year. And it would ease a lot of suffering.

But drug and device companies don’t see it that way. As they undergo R&D planning they realize a solution that minimizes or eliminates the use of their products just doesn't make financial sense.

If we want to improve quality of life and control the costs of medical treatment for all Americans, we need a better system for identifying, prioritizing and funding medical research.

Maximizing profits through research investments makes sense when treatments are optional. The retail world thrives on this model. No one is forced to buy a fancy new car or a luxury hotel stay.

But when a child is dying, parents have no choice but to obtain the required medical care.

A Failed Economic Model

Our economic system isn't designed to prioritize solutions with the highest probability to reduce suffering or improve quality of care.

And until we change the way U.S. medical research is funded, we won’t likely find a better solution for hydrocephalus or other commonly ignored diseases.

Current patent laws protect companies that invest in research. And their investments receive favorable tax treatments, as well. But what’s missing from this equation is the reciprocal obligation these companies have to invest in higher impact, lower profit solutions.

At the same time, we as a nation need to expand federal and state research funding in search of more cures, including those for less prevalent diseases. If we can pick the right areas, we can create economic value for millions of Americans.

Changing the model makes economic sense for the country. But more importantly, it’s the right thing to do for patients and their families.

Please visit the Hydrocephalus Association website to learn more and get involved.

This article originally appeared on Forbes.com.