Esquimalt family hosting fundraiser event for rare genetic disease research

An Esquimalt family is hosting a fundraiser event this month to raise money for the research of a rare genetic disease, DDX3X. 

DDX3X syndrome is caused by a mutation on the X-chromosome and is mostly prevalent in girls. 

It is extremely rare, with fewer than 2,000 people having been formally diagnosed worldwide. However, researchers estimate DDX3X may be responsible for 1% to 3% of all intellectual disability in women. 

Because the disorder was only identified in 2014, many adults are still undiagnosed.

Kelsey and Nico Christofi are Esquimalt residents whose two-year-old daughter Kalliopi is impacted by DDX3X syndrome. 

Kalliopi was diagnosed with the disorder through DNA sequencing at just 13-months-old after her parents realized at nine-months-old that she was developmentally delayed and was not responding to pain stimuli. 

Because the disorder is so rare, there is no government or pharmaceutical funding available for DDX3X in Canada. 

The DDX3X Foundation is a US-based non-profit organization dedicated to supporting families and funding scientific research into DDX3X Syndrome, but the organization operates largely on donations. 

In an effort to help the organization raise money for research into the rare disorder, the Christofis are throwing a block party, dubbed ‘Fernhill Funk.’

This event will take place on Saturday, June 13th, and will feature headliners Queer as Funk, a BC-based funk band that played the Christofis’ wedding back in 2022. 

In addition to live music, the event will feature food from Greek on the Street and Hazel’s Ice Cream. There will also be hot dogs and drinks donated by Country Grocer. 

Furthermore, there is a community silent auction running online now through event day that has been supported by several local Victoria businesses. 

The Christofis say that several western Canadian families with DDX3X-affected girls—including at least three from Vancouver Island—are expected to attend.

Tickets for Fernhill Funk are being sold by donation. Suggested donations range from $30 to $100 on a sliding scale with all proceeds going to the DDX3X Foundation. 

The DDX3X Foundation has set a goal of raising $200,000 USD this year to advance therapeutic research for the disease, and the Christofis hope to help them put a dent in that goal.

Fernhill Funk

• When: Saturday, June 13th from 2 p.m. to 5 p.m.
• Where: Fernhill Road, Esquimalt
• Admission: $30 to $100 on a sliding scale