In the rare disease community, fundraising plays a pivotal role in driving forward research and treatment initiatives, offering vital support to affected families, and guaranteeing access to necessary resources and equipment. Additionally, fundraisers serve as an invaluable platform for raising awareness about these often overlooked conditions. The 7th annual Team Matthew Luis Phelan-McDermid Syndrome fundraiser plans to do just that.

Kathleen Corso shared in Local10 that the fundraiser, which will take place this year on March 13, aims to support ten-year-old Matthew Castillo. Castillo is part of the Phelan-McDermid syndrome community. If you’d like to participate in the fundraiser or learn more about it, you can email [email protected].

Awareness is crucial in rare disease. Through awareness, we can not only educate the community more broadly, but provide a more inclusive and supportive environment for those affected by rare conditions. You can learn about Phelan-McDermid syndrome – or reach out for resources – through the Phelan-McDermid Syndrome Foundation.

What is Phelan-McDermid Syndrome?

Also known as: 22q13.3 deletion syndrome

Phelan-McDermid syndrome is a rare genetic disorder. It results from a deletion or disruption of the long arm of chromosome 22 or from a pathogenic (disease-causing) mutation on SHANK3. Most cases of Phelan-McDermid syndrome are not inherited but occur de novo (spontaneously). These mutations alter the way that the brain develops and functions.

This disorder manifests with a spectrum of intellectual, physical, and behavioral challenges that can vary in severity. Symptoms usually appear at birth or within the first six months of life. People with this disorder may experience:

• Hypotonia (low/poor muscle tone)
• Moderate-to-profound developmental delays
• Absent or delayed speech
• Autism spectrum disorder
• Chronic constipation
• Decreased perspiration and heat intolerance
• Moderate-to-severe intellectual disability
• Poor feeding
• Sleep disturbances
• Dolichocephaly (a head shape that is longer than usual from front to back)
• A flat midface with a wide brow, wide nasal bridge, full cheeks, deep-set eyes, and long eyelashes
• Heart and kidney defects
• Seizures

Presently, no cures exist for Phelan-McDermid syndrome. There are also no disease-specific treatments. Instead, those affected are given avenues to manage their symptoms. Future research could expand the treatment landscape, which would meet the significant unmet needs within this community.