Confirmed by karyotype analysis – Most patients with Ring 20 will not be identified by genomic tests.
Ring 20 syndrome, also known as ring chromosome 20 syndrome or r(20) syndrome, is a rare chromosomal disorder characterized by seizures, developmental delays, and other neurological and behavioral challenges. It is caused by a chromosomal abnormality where a piece of chromosome 20 becomes rearranged in the shape of a ring. This rearrangement can lead to various symptoms, including epilepsy that is often resistant to medication, intellectual disability, speech and language impairments, motor difficulties, and behavioral problems.
- Individuals with Ring 20 syndrome may experience different degrees of severity in their symptoms, and the condition can present itself differently from person to person. Diagnosis of Ring 20 syndrome is typically confirmed through genetic testing.
- Management of Ring 20 syndrome involves a multidisciplinary approach, including neurology, genetics, psychiatry, and other medical specialties, to address the various symptoms and provide appropriate support and treatment for individuals and their families.
- Because Ring 20 syndrome is rare, support networks and resources for affected individuals and their families are crucial for raising awareness, providing education, and facilitating access to necessary medical and therapeutic interventions.
Living with Ring 20
Rebecca A. James
I’ll never forget the seizure I had one Sunday in church. My awareness grew fuzzy, I felt like I was going in and out of a haze, and I was having trouble with walking and talking. But even when my family asked the usher to please bring communion to my seat, his cold response was, “No, only disabled people need that.” Like many other people I’ve met, he could not understand what this kind of invisible disability looks like. I missed
communion that day. I think God understood.
Changes in my behavior began affecting me when I was seven. I’d been a normal, happy child, but now suddenly much of my life became about my illness. After I was tested for many diseases, I was told that my seizures were atypical. This unhelpful word followed me until I was 32 years old, when a karyotype analysis finally revealed that one of my 20th chromosomes has a ring shape.
Seizures are part of who I am, but they do not define me. Still, I want you to understand how ring 20 affects me. I don’t want anyone else to have ring 20, but sometimes I wish others could experience one of my seizures so they could know what it is like. Maybe
hearing how my experiences have shaped me will help you see life as I do.
I have several types of episodes, each with its own obstacles. Staring seizures—when I look at someone for such a long time that it is worrying or annoying—are difficult because no one except my best friends and my family knows it’s happening. Sometimes in high school when I stared at a boy for a long time, I would get teased. The most common type I have is where everything is hard to follow. These can last for many minutes to hours and I can remember what happens but cannot control what I do. These two types of quiet seizures are the least disruptive to my life. During more vocal
seizures, I tense up and scream, rocking myself back and forth and sweating uncontrollably; or else, I curse or am nasty towards others. These episodes are not only physically exhausting, but also stressful and scary because of how others react even
though I can neither control nor remember what I say or do. My most disturbing seizures happen when I am sleeping. I awake with my muscles twitching. I feel like I am breathing in water. My heart is racing, and I don’t know where I am. Sometimes, I am not sure what is real and what is not. I call these night scares.
Ring 20 is often a hurtful, embarrassing and weird syndrome. When I was a child, it led to all kinds of problems. Once, I was sent to the principal’s office for not responding to my teacher’s question. When I woke up, I was incredibly embarrassed and sad that my teacher was angry with me. Luckily my friends stood up for me. At home, it took me so long to do homework. My brother was fast and good at it. He was a super athlete; I was
an All-County swimmer until Ring 20 interfered. Now exercise brings on my seizures. I was proud of him, but I wished I could keep up, be like him, and make him proud of me.
As an adult, I have to navigate a different set of challenges. Particularly hard are doctors’ visits. If I happen to have a seizure during the appointment, many doctors often assume that this fuzzy and incoherent version of me is what I am actually like. They underestimate what I can do and are surprised by my abilities when they see me awake. Because my parents accompany me in the exam room, I find that most doctors talk over me to them, as if they think I’m too slow. It is infuriating. I can understand you! Other doctors treat me like a curiosity. Once, during a staring seizure, a new doctor left the room and returned with several others without asking if it was OK. It made me feel like an alien under observation.
However, despite all of this, I do not feel sorry for myself. I am lucky to have many blessings: a loving family, many close friends, and activities I enjoy. My parents and my brother’s family are constant supporters. I love my cute cuddly dog and beautiful black horse who make me feel happy, calm and at peace. I know I am safe around them. I have a certificate in office work and was employed part-time for 13 years. I do yoga,
water aerobics, and horseback ride at a therapeutic stable. I paint, travel, and attend concerts and plays. Most importantly, I try to be the best aunt and godmother I can be.
Seizures force me to be brave and determined. I am a strong woman because I fight this disorder, and I won’t let anything stop me or get in my way. Despite my limitations, I try my best to travel, attend celebrations, and make sure life does not pass me by. There are disappointments, but much more importantly, there are many wonderful
times.
I’ve written this in the hope that the more you can put yourself in others’ shoes and feel what it must be like for them, the gentler, kinder and I think happier and grateful person you will be.