Ring chromosome 14 syndrome is an extremely rare chromosomal disorder that was first described in medical literature in 1971. An estimated 40-80 cases have since been discovered and described. So when Anthony and Siobhan Monroe learned that their daughter Charlotte (“Charlie”) had been diagnosed with Ring chromosome 14 syndrome, it was a shock—to say the least.
Charlie had undergone a series of intense seizures, leading to additional testing. The diagnosis itself was difficult, especially as the geneticist also didn’t know much about this condition. Suddenly, the Monroes found themselves grappling with what this diagnosis meant for Charlie, how to navigate the rare disease landscape and healthcare system, and how to forge a path forward where few treatments exist.
While 10-month-old Charlie’s time in the hospital was frightening for Siobhan and Anthony, the Monroe family is now moving forward steadfastly in their desire to not just support their daughter, but raise wider funds and awareness. Mark Monroe, Charlie’s grandfather, decided to launch CharlieFest 2024.
According to Mandy Feder-Sawyer in the Red Bluff Daily News, CharlieFest will take place at 2pm on Saturday, March 9, 2024 at Rodgers Theatre in Corning, CA. Community members will come together to listen to music—six local bands are performing—as well as participate in raffles, enjoy meals from a variety of food trucks, buy local baked goods, and (of course) rally behind the family as they work to raise Ring chromosome 14 syndrome awareness.
Outside of funds to support the family and their mission to educate others, funds from CharlieFest will be donated to Ring14 USA Outreach, a non-profit organization that advocates for families affected by rare neurodevelopmental disorders of the 14th chromosome. Learn more about CharlieFest and how you can get tickets.
What We Know About Ring Chromosome 14 Syndrome
Also known as: Ring14; Chromosome 14 Ring; Ring 14 syndrome
Ring14 USA explains that Ring14 is:
a very rare genetic disorder caused by a mutation in the 14th chromosome [in which] the ends of the chromosome fuse together, forming a ring structure. Genetic material is often, though not always, lost from this mutation, but serious health consequences tend to result either way.
The patient population is extremely small, and the National Organization for Rare Disorders (NORD) suggests that Ring14 affects slightly more males than females. Symptoms vary from person-to-person but may include:
- Prenatal and postnatal growth delays
- Low muscle tone (hypotonia)
- Psychomotor delays
- Feeding difficulties
- Joint contractures
- Mild-to-severe learning disabilities
- Recurrent seizures that are difficult to treat with anti-epileptic medication
- Microcephaly (an unusually small head size) with a high forehead, elongated face, widely spaced eyes, thin upper lip, flat nasal bridge, and large, low-set ears
- Micrognathia (an unusually small jaw)
- Retinal abnormalities
- Skin coloration abnormalities, such as cafe au lait spots or vitiligo
- A single crease across the palm
- Ataxia
- Tremors
- Congenital heart defects
- Recurrent respiratory infections
