When Tom and Tammy Parteleno first learned that their son Michael had Batten disease, it felt overwhelming. Scary, even. What would the future bring for their son? The Parteleno family chose to translate their concern into action by creating an annual golf tournament designed to raise Batten disease awareness—and support Michael in the process.
According to Steve Rappach of WKBN, the Partelenos recently held the fourth annual Michael’s Miracle Golf Fundraiser at Parto’s Golf Learning Center earlier this month. The proceeds from the fundraiser are used to support Michael’s health needs, including any medical expenses incurred from his care. During the fundraiser, participants could join in on multiple raffles, enjoy food and entertainment, and—of course—golf.
Just like the previous three years, the Parteleno family thanks the local community for joining in and supporting the family. The care and love that has been directed towards them has been immense.
Understanding Batten Disease
Also known as: Neuronal ceroid lipofuscinosis (NCL)
Batten disease is a family of rare, inherited neurodegenerative diseases that are inherited in an autosomal recessive pattern; this means that children must inherit one defective gene from each parent. Altogether, there are 13 forms of Batten disease that vary in age of onset and progression.
Batten disease occurs when substances called lipopigments accumulate in bodily tissues, destroying neurons in the brain, retina, and central nervous system. Unfortunately, this leads to devastating symptoms; this disease is often fatal by late teens or early 20s. Brineura is a treatment for children with late-infantile Batten disease (CLN2). No other form has a targeted treatment option. Most treatments are symptomatic, such as anticonvulsants to treat seizures, vitamin supplementation, and physical or occupational therapy. Research is currently exploring gene therapy as a potential intervention.
Symptoms of Batten disease may include:
- Cognitive decline
- Visual impairments
- Seizures
- Motor skill regression (loss of ability to walk, talk, and communicate)
- Dementia
- Changes in behavior or personality, such as aggression
- Tremors
- Muscle spasms or rigidity
- Ataxia
