7-year-old Peter Heath loves to tell jokes, play with Legos, hang out with his friends, and spend time outside. Guided by his white cane, which Peter aptly named Marshmallow, Peter makes the most of life and takes on every challenge thrown his way. And there have been challenges, shares an article in NBC4i. Peter was diagnosed with Batten disease one year ago and has since lost his vision.
That hasn’t stopped Peter from writing a children’s book about his experiences. In fact, the book – titled “The Adventures of Marshmallow and Peter” – gives readers a glimpse at Peter’s world through the eyes of a unique narrator: Marshmallow! Marshmallow is an adventurous spirit; together, Peter and Marshmallow love ziplining and karate. In the future, Peter hopes to write a second book all about their family’s trip to Disney World!
Half of the proceeds from the book, which is also available for purchase at Barnes & Noble, are being donated to fund and support research into Batten disease.
What is Batten Disease?
Batten disease, also known as neuronal ceroid lipofuscinosis (NCL), is a rare inherited nervous system disorder. While multiple subtypes of Batten disease exist, the four main forms are infantile (beginning before age 2 and often fatal before 8); late-infantile (beginning between 2-4 and often fatal by 8-12); juvenile (beginning between 5-8 and often fatal by early 20s); and adult (beginning before 40 with a variable lifespan). There are over 400 gene mutations associated with this disease. These mutations cause a type of substance called a lipoprotein to accumulate in tissue, killing neurons. As a result, the brain and nervous system are progressively damaged.
Symptoms of Batten disease may include:
- Ataxia (unsteady gait)
- Visual impairment
- Changes in mood, behavior, and personality
- Myoclonus (abnormal jerking movements of the muscles)
- Worsening speech and motor skills
Brineura is approved for the treatment of late-infantile onset Batten disease and has been shown to slow or even stop symptom progression. No other approved drugs exist for any other form of this disease. It may be managed with a blend of vitamin C and E supplementation, anti-epileptic medicine, cerliponase alfa, and physical or occupational therapy.