Throughout the globe, there are many countries in which rare disease awareness and support are still lacking. While India has made some strides in improving care for people within this community, there are still numerous areas of improvement. For example, improving the National Policy on Rare Diseases, collecting more data on rare conditions, and ensuring that patients have access to clinical studies could significantly benefit the Indian rare disease community. However, the first step in improving rare disease policy is ensuring that patients and families have necessary resources on the ground level. That is why Boddu Srikanth and Harika are asking the Indian government to help find treatment options and resources for their son Shivayya, who was diagnosed with hydrocephalus.

According to News 18, Shivayya and his twin were born in 2016, though his twin passed away shortly after birth. Just five months later, his parents noticed that his head seemed to be growing rapidly. They took Shivayya to the hospital, where a number of tests were performed. At first, doctors found nothing. But Srikanth and Harika were convinced that something was going on with their son. They traveled to a second hospital in Secunderabad. It was here that Shivayya received his diagnosis. 

Shivayya is now 8 years old and struggling to find care. Doctors suggested that he take Balamritham, a syrup-based formula for health and wellness. Outside of this, however, doctors have stated that there is no way to treat his hydrocephalus. Shivayya’s condition has declined to the point where he can no longer eat solid food, struggles to move, and cannot open his eyes. His parents are asking the Telangana government to please step in and find additional help for their child. 

About Hydrocephalus

Also known as “water on the brain,” hydrocephalus is a rare neurological condition in which fluid builds up in brain cavities called ventricles. Normally, cerebrospinal fluid (CSF) moves through these ventricles. CSF helps the brain remain buoyant, bathes the brain and spinal column, maintains pressure, prevents injury, and removes waste. In hydrocephalus, however, this fluid accumulates and puts pressure on the brain. This may occur due to tumors that obstruct CSF flow, overproduction of CSF, or poor absorption due to brain disease, injury, or infection. Symptoms in children may include: 

• Nausea and vomiting
• An unusually large head or rapid increase in head size
• Downward-fixed eyes
• Hypotonia (low/poor muscle tone)
• Poor coordination
• Failure to thrive
• Irritability
• A bulging or tense fontanelle 
• Excessive sleepiness
• Seizures 

Alternatively, if hydrocephalus occurs in adults, symptoms may include memory loss, poor balance and coordination, vision impairments, difficulty walking, issues with thinking and reasoning, and a loss of bowel and/or bladder control. 

A shunt insertion or endoscopic third ventriculostomy surgery are the main treatment options for hydrocephalus. In some cases, doctors may also suggest the use of occupational and developmental therapy.