Hydro-what?

Hydro-what? This is how many people react when I talk to them about the condition I have. Or they give me a “Um...I'm embarrassed to say that I have no idea what that is” look. The condition is not visible to most people when they look at me, and it's not frequently spoken of in the news or among your co-workers. I was born with hydrocephalus, or too much cerebrospinal fluid (CSF) trapped in my brain. Though I was born with it, my body was able somehow to compensate for it until I received a traumatic brain injury at the age of fory-five years.

​Last year I had the pleasure of participating “virtually” in the 2018 Hydrocephalus Association National Conference in Los Angeles, California. By logging in to a computer I was able to be in Los Angeles, listening and viewing speakers talking about many aspects of hydro-what-alus. What particularly interested me was all the research being done and how much financial backing the Hydrocephalus Association generously gives out to the researchers who apply for funding.

People living with hydro-huh? have a boat load of questions we'd like answered and decisions to make that we'd really rather not be making. There is research going on that addresses many of these concerns. Should I have brain surgery to place a shunt to drain the excess fluid, or should I have a newer, slightly more risky surgery called ETV-CPC that is also brain surgery and the surgeons have less experience with? (or if you dare try to say it: Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization) What are the pros and cons of each? What type of shunt will the surgeon place: a programmable shunt, a shunt with the ability to compensate for a particular side effect called siphoning, or a plain shunt without any extra attachments? How long will an ETV last before it's necessary to have another brain surgery? What are the complications of these brain surgeries? Why do some people have shunt surgery, not needing another one for twenty years, and others seem to have brain surgery every year? What can we do to decrease the incidence of infection and shunt obstruction following surgery? What causes a shunt to become obstructed? What does that even mean? How does a healthy brain normally recycle used CSF? Can we mimic this somehow? Are there any drugs that can do this, instead of putting folks through surgeries and risking infection?

All of these research topics center around relieving the pressure of hydro-eh? but little research has been done to discover the genetic causes. Until now. Dr. Kristopher Kahle has been leading a team of researchers looking for genetic mutations associated with hydro-what-ulus in all its various forms. They are doing this by recruiting willing volunteers diagnosed with hydrocephalus and their families to donate a few cheek cells. My family has the pleasure of having our DNA as part of that study, due to my being gifted with water-what's-it presumably from birth. The results are in: Dr. Kahle and his team have found four new genetic markers associated with hydrocephalus. They are named SMARCC1, TRIM71, SHH, PTCH1, and we add them to the already identified x-linked mutation L1CAM.

Dr. Kahle is asking the question, “Is hydrocephalus a condition in and of itself, or is it a symptom of a larger condition?” The answer to that question appears to be that hydrocephalus is only a part of a larger genetic condition. When we shunt individuals or perform ETV surgery, we are relieving the pressure of the excess fluid on the brain, but we are not curing the condition. As long as the genetic mutations are present, excess spinal fluid will continue to be made by the body.

I look forward to hearing more about the research being performed around hydrocephalus. Hy-dro-sef-a-lus. Hy-dro-sef-a-lus. Hy-dro-sef-a-lus... The Hydrocephalus Association has recordings of the latest webinar about Dr. Kahle's research, and other interesting Hy-dro-sef-a-lus facts! Check it out at hydroassoc.org.