A Story Of Happy And Sad Endings: On An Affliction That Is Plaguing Infants East And West

It was one of the driest and warmest of Augusts Jennifer had experienced. It had not rained for ages and the thermometer was bumping above the 90 F (~ 32 C) mark ever so often. As she woke up on that particular day in mid-August of 2007 however, the North Carolinian weather did not even cross her mind. As she sat up on the bed, she caressed her hand onto her protruding tummy. A smile quickly creeped its way onto her sleepy face. Today, she had an appointment with the doctor. And she was going to see her 20-week old unborn son. With this happy thought, she got up onto her feet and went about her early-morning chores. What she didn't know was that in just a few hours, the doctor would inform her that her son was suffering a condition known as hydrocephalus.

Hydrocephalus literally means water on the brain, a description that is as vivid as it is adequate. The condition is typically characterised by swelling of the skull due to buildup of cerebrospinal fluid in the brain. In the western world, hydrocephalus in infants arises predominantly because of problems occurring during brain development. Conditions such as holoprosencephaly, whereby the brain fails to develop into two halves, and the relatively more common myelomeningocele, which occurs when the neural tube does not close, prevents proper drainage of cerebrospinal fluid from the brain. The blocked fluid builds up, usually in a ventricle of the brain, and causes swelling.

Excessive swelling of the brain can cause brain damage and continued non-treatment may lead to death. To alleviate the swelling and minimise the risk of brain damage, the excess fluid needs to be drained off. To do so, surgery is required, a procedure that only adds to the distress of the parents, and probably to that of the baby.

Jennifer did not start to blog about her experiences carrying a hydrocephalic baby until a little over a month and a half after that day in mid-August. She took that long to recover from the shock, from the fear, from the trauma that the doctor's words avalanched upon her. But eventually she decided that she would have to be strong. She would put her faith in science.

Two days after he was born through a C-section, Jennifer's son, Elijah, was prepped for surgery. Apart from his condition, Elijah had been born in good health. This was good news. It meant that the surgeon could fit a shunt to divert Elijah's excess cerebrospinal fluid from his brain. During the operation, the surgeon made a small cut through Elijah's scalp behind his ear. He then drilled a small hole through his skull to gain access to the brain. Steadily, the surgeon proceeded by fitting a small tube through the hole and into the ventricle engorged with fluid. The tube, connected to a shunt, was then linked to Elijah's abdomen, where the excessive fluid would drain and be reabsorbed.

Elijah's surgery went admirably well and within a week Jennifer was able to take her son home for the first time. Jennifer last updated her blog in July 2012. The last blog post, entitled "4 years old," was her sole posting that year. In it, she wrote:

"We are just so in love with this little boy. He is still our miracle. We still head back to Duke once a year for a visit with Dr. Grant and a scan to make sure all is well. So far it always is. :)"

But this positive outcome should not camouflage the complexity of the procedure nor the financial burden it imposes on families. Currently, in the US, there is one shunt surgery every 13 minutes, with a cost of over 1 billion dollars a year.

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More babies in East Africa are susceptible to hydrocephalus than in many other regions. And the cause of the disorder is not only limited to developmental problems. Most cases of infant hydrocephalus are postinfectious, developing following prenatal infections such as toxoplasmosis, rubella and syphilis. But unlike developmental problems, microbial infections can be prevented. Thus, the possibility of mitigating infant hydrocephalus in East Africa is possible by curbing down on the postinfectious component of the disorder.

It is important to understand and accept that conditions in East Africa are very different from those in the developed world however. In East Africa, many people are powerless against environmental factors that are anchored in the soil, untreated water and inadequate sanitation. The environment harbours daggers but that is where people sleep and wake up, work and relax, laugh and cry. That is where they live their lives. In addition, most parents cannot afford to pay for shunt surgeries. Only a small minority of babies from those regions will get the same chance to life that Elijah was blessed with.

In order to diminish the number of cases of infant hydrocephalus in East Africa therefore, prevention is a must. But it should not be destructive or incompatible with the people's way of lives. A new study which paves the way to prevention by better understanding an environmental factor behind microbial infections offers much hope in this regard.

Benjamin C. Warf, associate professor of neurosurgery at Harvard Medical School and Steven J. Schiff, professor of engineering at the Penn State Center for Neural Engineering, noticed that a few months after an infant had suffered from a microbial infection in East Africa, the infant might return with hydrocephalus. They also noticed that infants appeared to return in waves depending on rainy day stretches.

Suspecting that they were onto something, the two professors and colleagues tracked 696 hydrocephalus cases in Ugandan infants between the years 2000 and 2005. They then matched the regions where those cases were reported with localised rainfall data, fed by weather satellites, for the same time frame.

What they found was the first major link between a neurosurgical condition and climate. The comparison showed that the number of reported cases of infant hydrocephalus rose on four occasions a year: just before and just after the biannual Ugandan rainy seasons reached their peaks.During those periods of time, the amount of rainfall was at intermediate levels of six inches (~150 mm). The professors speculate that these levels are optimal for a variety of pathogens to spread.

To back up this idea, they point to patterns of cholera in India and Bangladesh. As with hydrocephalus, cholera appears to peak at intermediate levels of rainfall while it diminishes at maximum levels. At such maximum levels of rainfall, cholera pathogens are too extensively diluted to do much harm. Could the same be happening with pathogens that can cause hydrocephalus? They are not sure because nobody has as yet mapped the entire spectrum of pathogens that can lead to hydrocephalus. A large-scale study which is looking into the bacterial and viral components present in babies with neonatal sepsis (who have a high risk of developing hydrocephalus) may shed some light on this soon though.

In the meantime, the study shows a clear link between infant hydrocephalus and environmental conditions that are favourable to transmissible diseases. To curb infant hydrocephalus therefore, health authorities should redouble their efforts in protecting against and containing transmissible diseases, particularly during rainy seasons.

The study also poignantly reminds us that transmissible diseases may not only be a threat to the current populace but that they may also rip the chance of a normal life, or of a life at all, from our babies. Hydrocephalus is very much a story life and death. It is sometimes a story of happy endings and at other times one of sad endings. Unfortunately, in poorer regions, it is mostly a story of sad endings.

For now.

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Note: Blog posts written by Jennifer herself and published on this blog were used as a starting point to write the section of this blog post which focuses on her and Elijah.

References:

• Schiff, S.J., Ranjeva, S.L., Sauer, T.D. & Warf, B.C. (2012) Rainfall drives hydrocephalus in East Africa. Journal of Neurosurgery: Pediatrics. DOI: 10.3171/2012.5.PEDS11557.
• Volpe, J.J. Neurology of the Newborn. 5th ed. Philadelphia, PA: Saunders Elsevier, 2008.

• The mission of the International Federation of Spina Bifida and Hydrocephalus is to improve the quality of life of people with Spina Bifida and Hydrocephalus throughout the world and to decrease the prevalence of Spina Bifida and Hydrocephalus by primary prevention. You can help by making a donation.
• CURE is a non-profit organization that operates hospitals and programs in 27 countries worldwide. Visit CURE Hydrocephalus to help save a child's life and/or train surgeons.

• Children's Hydrocephalus Support Group
• Hydrocephalus Association
• Hydrocephalus Foundation, Inc.