For years, Debra Papagni Denmark worked to have New York State recognize Phelan-McDermid Syndrome after her son Drew, now 13, was diagnosed. A few years ago, Governor Andrew Cuomo heard her calls. He declared that October 22 would be Phelan-McDermid Syndrome Awareness Day within the state.
Why the 22nd? You might ask. Well, Phelan-McDermid syndrome may also be called 22q13 deletion syndrome, as it can be caused by either SHANK3 gene mutations or a deletion of part of chromosome 22.
According to Silive, John DiMicelli, an FDNY firefighter from Ladder 87/Engine 167, recently worked to raise awareness around this condition on the 3rd annual Phelan-McDermid Syndrome Awareness Day. He was driven by the work of his cousin, Debra, and wanted to help support Drew.
During the event, children were able to walk through the fire station, use donated hats to dress up as firefighters, and enjoy food and drinks donated by one of the Denmark family friends. Beyond raising awareness, the family also sought to raise funds to support the Phelan-McDermid Syndrome Foundation (PMSF). If you’re interested in donating to the cause, you may do so here.
Altogether, the Denmark family feels extremely grateful to have their community rally behind them. In fact, they are “Phelan Lucky!” Moving forward, both DiMicelli and Denmark hope that more people can learn about what this condition is and how important it is to support families.
Although Phelan-McDermid syndrome (PMS) is a rare genetic condition, it is often not inherited. Rather, the deletion or mutations occur spontaneously and often from unknown or non-understood causes. However, in around 20% of diagnoses, the condition could be inherited. This syndrome is a very variable disorder, ranging in symptoms and severity. However, symptoms typically appear in infancy (within 6 months of birth) and can include:
- Neonatal hypotonia (low muscle tone in infants)
- Intellectual and developmental delays
- High pain tolerance
- Less sweating (i.e. prone to overheating)
- Delayed or absent speech
- Autism spectrum disorder (occurs in around 75% of patients)
- Repetitive behaviors
- Chronic constipation
- Difficulty eating
- Sleep disturbances
- Facial characteristics, including a wide brow and nasal bridge, dolichocephaly, deep-set eyes, and full cheeks
- Heart and kidney defects
Currently, there are no treatments or cures for this condition. Rather, treatment is often symptomatic.
Learn more about Phelan-McDermid syndrome.